293 results match your criteria Lipodystrophy Progressive


Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.

Neurol Sci 2020 May 21. Epub 2020 May 21.

Dipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy.

Introduction: Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed.

Case Report: We report the case of two sisters, 11 and 18 years old respectively, with an overlapping clinical phenotype compatible with Berardinelli-Seip syndrome and progressive myoclonic epilepsy. Read More

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http://dx.doi.org/10.1007/s10072-020-04418-1DOI Listing

Lipotransfer provides effective soft tissue replacement for acquired partial lipodystrophy.

BMJ Case Rep 2020 May 12;13(5). Epub 2020 May 12.

Division of Surgery & Interventional Science, University College London, London, UK.

We present a 48-year-old female patient who presented with features consistent with acquired partial lipodystrophy (APL) also known as 'Barraquer-Simons syndrome'. It is a rare disease characterised by a gradual and progressive onset of lipoatrophy limited to the face, neck, upper limbs, thorax and abdomen and sparing the lower extremities. The resultant physical appearance can have significant psychosocial sequelae, further compounded by misdiagnosis and delay in recognition and management. Read More

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http://dx.doi.org/10.1136/bcr-2019-232601DOI Listing

Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes.

Sci Rep 2020 May 4;10(1):7490. Epub 2020 May 4.

The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, UK.

Werner Syndrome (WS) and Bloom Syndrome (BS) are disorders of DNA damage repair caused by biallelic disruption of the WRN or BLM DNA helicases respectively. Both are commonly associated with insulin resistant diabetes, usually accompanied by dyslipidemia and fatty liver, as seen in lipodystrophies. In keeping with this, progressive reduction of subcutaneous adipose tissue is commonly observed. Read More

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http://dx.doi.org/10.1038/s41598-020-64136-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198505PMC

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.

Clin Genet 2020 Jul 4;98(1):19-31. Epub 2020 May 4.

Centre de Génétique et Centre de référence « Anomalies du Développement et Syndromes Malformatifs », Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.

Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p. Read More

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http://dx.doi.org/10.1111/cge.13752DOI Listing
July 2020
3.931 Impact Factor

Relapsing and Progressive Complications of Severe Hypertriglyceridemia: Effective Long-Term Treatment with Double Filtration Plasmapheresis.

Blood Purif 2020 Mar 19:1-11. Epub 2020 Mar 19.

Department of Nephrology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

Background: Severe hypertriglyceridemia (HTG) is associated with major complications such as acute or relapsing pancreatitis (AP) and atherosclerotic cardiovascular disease (ASCVD). Rapid elimination of triglyceride (TG)-rich lipoproteins (LP) with double filtration plasmapheresis (DFPP) without need for substitution has been found to be effective for the acute, short-term treatment of HTG-induced AP. Data on the long-term use of DFPP to prevent HTG-associated complications are scarce. Read More

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http://dx.doi.org/10.1159/000506506DOI Listing
March 2020
1.920 Impact Factor

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.

Front Endocrinol (Lausanne) 2020 14;11:39. Epub 2020 Feb 14.

Obesity and Lipodystrophy Center at Endocrinology Unit, University Hospital of Pisa, Pisa, Italy.

Berardinelli-Seip congenital lipoatrophy (BSCL) is characterized by near total fat atrophy, associated with the progressive development of metabolic complications. BSCL type 1 (BSCL1) is caused by mutations in , encoding 1-acylglycerol-3phosphate-O-acyltransferase β (recently renamed lysophosphatidic acid acyltransferase beta), which catalyzes the transformation of lysophosphatidic acid in phosphatidic acid, the precursor of glycerophospholipids and triglycerides. BSCL1 is an autosomal recessive disease due to pathogenic variants leading to a depletion of triglycerides inside the adipose organ, and to a defective signaling of key elements involved in proper adipogenesis. Read More

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http://dx.doi.org/10.3389/fendo.2020.00039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034310PMC
February 2020

Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome.

Front Endocrinol (Lausanne) 2019 10;10:908. Epub 2020 Jan 10.

Department of Orthopaedic Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.

Segmental progeroid syndromes are commonly represented by genetic conditions which recapitulate aspects of physiological aging by similar, disparate, or unknown mechanisms. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease caused by mutations in the gene for ACVR1/ALK2 encoding Activin A receptor type I/Activin-like kinase 2, a bone morphogenetic protein (BMP) type I receptor, and results in the formation of extra-skeletal ossification and a constellation of others features, many of which resemble accelerated aging. The median estimated lifespan of individuals with FOP is approximately 56 years of age. Read More

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http://dx.doi.org/10.3389/fendo.2019.00908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966325PMC
January 2020

Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.

Medicine (Baltimore) 2019 Nov;98(48):e18121

Department of Infectious Diseases, The Children's Hospital, Zhejiang University School Of Medicine, National Clinical Research Center For Child Health, Hangzhou, China.

Rationale: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive hereditary disease. It is associated with metabolic complications and epilepsy is rare.

Patient Concerns And Diagnoses: One child with BSCL2 mutation and CGL accompanied by progressive myoclonic epilepsyDiagnosis: He was diagnosed with epilepsy, CGL, and severe malnutrition. Read More

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http://dx.doi.org/10.1097/MD.0000000000018121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6890334PMC
November 2019
5 Reads
5.723 Impact Factor

LIFELONG PROGRESSIVE RETINAL ATROPHIC LESIONS IN A PATIENT WITH PARTIAL ACQUIRED LIPODYSTROPHY (BARRAQUER-SIMONS SYNDROME).

Retin Cases Brief Rep 2019 Aug 21. Epub 2019 Aug 21.

Service d'ophtalmologie, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.

Purpose: To report a case of lifelong progressive retinal atrophic lesions in a patient with partial acquired lipodystrophy, that is, Barraquer-Simons syndrome.

Methods: Case report.

Results: A 67-year-old female patient with Barraquer-Simons syndrome was referred for progressive visual loss. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000916DOI Listing
August 2019
5 Reads

Acquired Generalized Lipodystrophy: A New Cause of Anti-PD-1 Immune-Related Diabetes.

Diabetes Care 2019 10 21;42(10):2008-2010. Epub 2019 Aug 21.

French Network of Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS) and FIRENDO Network, Paris and Lyon, France

Objective: Anti-programmed cell death-1 (anti-PD-1) antibodies have revolutionized advanced cancer therapy. Anti-PD-1 therapy is responsible for immune-related adverse events, with frequent endocrine manifestations, including acute-onset type 1 diabetes. Acquired generalized lipodystrophy (AGL) is a rare disease, believed to be immune mediated, characterized by loss of adipose tissue and insulin resistance-associated complications. Read More

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http://dx.doi.org/10.2337/dc18-2535DOI Listing
October 2019
4 Reads

Adipocyte-specific disruption of ATPase copper transporting α in mice accelerates lipoatrophy.

Diabetologia 2019 12 8;62(12):2340-2353. Epub 2019 Aug 8.

State Key Laboratory of Animal Nutrition, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, People's Republic of China, 100193.

Aims/hypothesis: ATPase copper transporting α (ATP7A), also known as Menkes disease protein, is a P-type ATPase that transports copper across cell membranes. The critical role of ATP7A-mediated copper homeostasis has been well recognised in various organs, such as the intestine, macrophages and the nervous system. However, the importance of adipocyte ATP7A-mediated copper homeostasis on fat metabolism is not well understood. Read More

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http://dx.doi.org/10.1007/s00125-019-4966-2DOI Listing
December 2019
3 Reads

Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.

Pediatr Rheumatol Online J 2019 May 2;17(1):19. Epub 2019 May 2.

Instituste of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK.

Background: CANDLE syndrome (an acronym for Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature) is a recently described rare autosomal recessive disorder charaterized by systemic autoinflammation. Clinical manifestations include presentation in the first year of life, episodes of fever accompanied by erythematous skin lesions, progressive lipodystrophy, violaceous periorbital swelling and failure to thrive. This syndrome is caused by loss of function mutations and malfunction of the immunoproteasome complex. Read More

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https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-
Publisher Site
http://dx.doi.org/10.1186/s12969-019-0322-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498627PMC
May 2019
10 Reads

A case of bilateral Parry-Romberg syndrome successfully treated with hyaluronic acid filler augmentation.

J Cosmet Dermatol 2019 Apr 15. Epub 2019 Apr 15.

Department of Dermatology, Boston University School of Medicine, Boston, Massachusetts.

Parry-Romberg syndrome is a rare acquired neurocutaneous disorder typically characterized by hemifacial atrophy. Few cases of bilateral facial involvement have been reported. We report a case of a 60-year-old female with a 20-year history of progressive bilateral facial atrophy. Read More

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http://dx.doi.org/10.1111/jocd.12948DOI Listing
April 2019
8 Reads

Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.

Neurogenetics 2019 05 23;20(2):73-82. Epub 2019 Mar 23.

Thyroid and Metabolic Diseases Unit, Biomedical Research Institute (CIMUS)-IDIS, School of Medicine, Universidade de Santiago de Compostela, Santiago, Spain.

Celia's encephalopathy (progressive encephalopathy with/without lipodystrophy (PELD)) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing site leading to skipping of exon 7. For years, different authors have reported cases of congenital generalized lipodystrophy due to the variant c. Read More

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http://dx.doi.org/10.1007/s10048-019-00574-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288395PMC
May 2019
29 Reads

Berardinelli-Seip syndrome and progressive myoclonus epilepsy.

Epileptic Disord 2019 Feb;21(1):117-121

Child Neurology and Psychiatry Unit, "Regina Montis Regalis" Hospital, Mondovì.

Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, hepatic steatosis, cardiomyopathy, and acanthosis nigricans. Most reported mutations are associated with mild, non-progressive neurological impairment. We describe the clinical and EEG data of a patient with progressive myoclonus epilepsy (PME), CGL2, and progressive neurological impairment, carrying a homozygous BSCL2 nonsense mutation. Read More

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http://dx.doi.org/10.1684/epd.2019.1038DOI Listing
February 2019
35 Reads

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Am J Hum Genet 2018 12 15;103(6):976-983. Epub 2018 Nov 15.

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

We have investigated a distinct disorder with progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis. In six affected individuals from four families, we found one of two recurrent variants in discoidin domain receptor tyrosine kinase 2 (DDR2): c.1829T>C (p. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288050PMC
December 2018
53 Reads

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome.

J Med Genet 2018 12 15;55(12):837-846. Epub 2018 Oct 15.

Department of Paediatrics, Amsterdam UMC - location AMC, University of Amsterdam, Amsterdam, The Netherlands.

Background: Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face. We aimed to understand its molecular cause.

Methods: We performed exome sequencing in two families, targeted sequencing in 10 other families and performed in silico modelling studies and transcript processing analyses to explore the structural and functional consequences of the identified variants. Read More

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105528
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http://dx.doi.org/10.1136/jmedgenet-2018-105528DOI Listing
December 2018
78 Reads

Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease.

Acta Neurol Belg 2018 Dec 21;118(4):607-615. Epub 2018 Sep 21.

Department of Neurology, Ghent University Hospital, Ghent, Belgium.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young dementia, leukoencephalopathy and brain calcifications. We report and compare three cases in terms of clinical phenotype, imaging and neuropathological findings. Both cases have led to the identification of two novel causal mutations. Read More

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http://dx.doi.org/10.1007/s13760-018-1023-8DOI Listing
December 2018
4 Reads

Recurrent fevers, progressive lipodystrophy, and annular plaques in a child.

J Am Acad Dermatol 2019 Jan 8;80(1):291-295. Epub 2018 Sep 8.

Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland. Electronic address:

KEY TEACHING POINTS. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01909622183249
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http://dx.doi.org/10.1016/j.jaad.2018.08.043DOI Listing
January 2019
14 Reads
4.450 Impact Factor

Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.

Front Endocrinol (Lausanne) 2018 20;9:458. Epub 2018 Aug 20.

Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.

Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the gene that results in regional loss of subcutaneous adipose tissue with onset in puberty. However, a generalized lipodystrophy phenotype has also been associated with heterozygous mutations in this gene, demonstrating the noticeable phenotypic heterogeneity of this disease. We report and describe clinical and metabolic features of four patients from the same family with the p. Read More

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https://www.frontiersin.org/article/10.3389/fendo.2018.00458
Publisher Site
http://dx.doi.org/10.3389/fendo.2018.00458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110164PMC
August 2018
45 Reads

Dysregulation of immunoproteasomes in autoinflammatory syndromes.

Authors:
Koji Yasutomo

Int Immunol 2019 09;31(10):631-637

Department of Immunology & Parasitology, Graduate School of Medicine, Tokushima University, Kuramoto, Tokushima, Japan.

Immunoproteasomes degrade ubiquitin-coupled proteins and play a role in creating peptides for presentation by MHC class I proteins. Studies of gene-deficient mice, in which each immunoproteasomal subunit was affected, have demonstrated that dysfunction of immunoproteasomes leads to immunodeficiency, i.e. Read More

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http://dx.doi.org/10.1093/intimm/dxy059DOI Listing
September 2019
4 Reads

Acquired partial lipodystrophy treated with poly-L-lactic acid and hyaluronic acid fillers: a case report.

J Cosmet Laser Ther 2019 17;21(4):201-202. Epub 2018 Aug 17.

Department of Dermatology, University of Minnesota , Minneapolis , MN , USA.

Acquired partial lipodystrophy (APL), also known as Barraquer-Simons syndrome, is a rare disorder characterized by progressive fat loss in the upper body. Use of poly-L-lactic acid and hyaluronic acid (HA) fillers for the treatment of APL is neither approved by the Food and Drug Administration nor described in the literature. Herein, we describe a case of APL that achieved significant improvement in facial volume following treatment with combination poly-L-lactic acid and HA fillers. Read More

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http://dx.doi.org/10.1080/14764172.2018.1511909DOI Listing
January 2020
64 Reads

Acquired generalised lipodystrophy and type 1 diabetes mellitus in a child: a rare and implacable association.

BMJ Case Rep 2018 Aug 3;2018. Epub 2018 Aug 3.

Department of Paediatrics, Post Graduate Institude of Medical Education and Research, Chandigarh, India.

Lipodystrophy syndromes are frequently associated with marked degree of insulin resistance and lipoatrophic diabetes. Although acquired generalised lipodystrophy (AGL) has been known to be associated with various autoimmune disorders, type 1 diabetes mellitus (T1DM) is very rarely reported to occur with AGL. Combination of AGL and T1DM can lead to a totally different phenotype with very difficult-to-treat diabetes and progressive complications of both the conditions. Read More

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http://dx.doi.org/10.1136/bcr-2018-225553DOI Listing
August 2018
31 Reads

A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome.

J Investig Med High Impact Case Rep 2018 Jan-Dec;6:2324709618786770. Epub 2018 Jul 12.

Western University, London, Ontario, Canada.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a recently recognized genetic disorder comprised of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy. It is caused by an autosomal dominant mutation in the gene, with <20 genetically confirmed cases to date. Clinical overlap with other progeroid syndromes including Werner syndrome (WS) can present diagnostic challenges. Read More

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http://dx.doi.org/10.1177/2324709618786770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047234PMC
July 2018
31 Reads

Diagnosis and treatment of lipodystrophy: a step-by-step approach.

J Endocrinol Invest 2019 Jan 27;42(1):61-73. Epub 2018 Apr 27.

Endocrinology Unit, Obesity Center, University Hospital of Pisa, Pisa, Italy.

Aim: Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes mellitus and dyslipidemia.

Purpose: To describe the clinical presentation of known types of lipodystrophy, and suggest specific steps to recognize, diagnose and treat lipodystrophy in the clinical setting.

Methods: Based on literature and in our own experience, we propose a stepwise approach for diagnosis of the different subtypes of rare lipodystrophy syndromes, describing its more frequent co-morbidities and establishing the therapeutical approach. Read More

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http://dx.doi.org/10.1007/s40618-018-0887-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304182PMC
January 2019
30 Reads

Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.

Eur J Hum Genet 2018 03 24;26(3):396-406. Epub 2018 Jan 24.

Thyroid and Metabolic Diseases Unit, Biomedical Research Institute (CIMUS)-IDIS, School of Medicine, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.

Celia's encephalopathy (progressive encephalopathy with/without lipodystrophy, PELD) is a recessive neurodegenerative disease that is fatal in childhood. It is caused by a c.985C>T variant in the BSCL2/seipin gene that results in an aberrant seipin protein. Read More

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http://dx.doi.org/10.1038/s41431-017-0052-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839047PMC
March 2018
43 Reads

Adipose tissue deficiency of hormone-sensitive lipase causes fatty liver in mice.

PLoS Genet 2017 12 12;13(12):e1007110. Epub 2017 Dec 12.

College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.

Fatty liver is a major health problem worldwide. People with hereditary deficiency of hormone-sensitive lipase (HSL) are reported to develop fatty liver. In this study, systemic and tissue-specific HSL-deficient mice were used as models to explore the underlying mechanism of this association. Read More

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http://dx.doi.org/10.1371/journal.pgen.1007110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741266PMC
December 2017
14 Reads

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.

Endocr J 2018 Feb 2;65(2):227-238. Epub 2017 Dec 2.

Department of Genome Medicine, National Research Institute for Child Health, Setagaya, Tokyo 157-8535, Japan.

Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are characterized by phenotypic features of premature aging affecting various tissues and organs. In this study, we present a "sporadic/isolated" Japanese woman who was ultimately diagnosed with mandibular hypoplasia, deafness, progeroid features, and progressive lipodystrophy (MDPL) syndrome (MIM #615381) using whole exome sequencing analysis. She had been suspected as having atypical Werner syndrome and/or progeroid syndrome based on observations spanning a 30-year period; however, repeated genetic testing by Sanger sequencing did not identify any causative mutation related to various subtypes of congenital partial lipodystrophy (CPLD) and/or mandibular dysplasia with lipodystrophy (MAD). Read More

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http://dx.doi.org/10.1507/endocrj.EJ17-0287DOI Listing
February 2018
24 Reads

Crescentic C3 glomerulopathy with acquired partial lipodystrophy: An unusual cause of rapidly progressive renal failure.

Indian J Pathol Microbiol 2017 Apr-Jun;60(2):290-291

Department of Nephrology, Christian Medical College, Vellore, Tamil Nadu, India.

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http://dx.doi.org/10.4103/0377-4929.208401DOI Listing
October 2018
20 Reads
0.642 Impact Factor

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Am J Med Genet A 2017 Jul 26;173(7):1763-1772. Epub 2017 Apr 26.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as "gold standard. Read More

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http://dx.doi.org/10.1002/ajmg.a.38246DOI Listing
July 2017
66 Reads

A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.

Neurobiol Aging 2017 05 20;53:194.e13-194.e22. Epub 2017 Jan 20.

Department of Neurology, University of Thessaly, University Hospital of Larissa, Larissa, Greece; Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece. Electronic address:

Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as they have been coined, "microgliopathies". Mutations in TREM2 and TYROBP genes are known to cause NHD. Read More

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.01.015DOI Listing
May 2017
29 Reads

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Dis Model Mech 2017 02 15;10(2):105-118. Epub 2016 Dec 15.

Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.

A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p. Read More

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http://dx.doi.org/10.1242/dmm.026476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312003PMC
February 2017
64 Reads

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo mutation.

Cold Spring Harb Mol Case Stud 2017 Jan;3(1):a001156

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.

We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p. Read More

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http://dx.doi.org/10.1101/mcs.a001156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171695PMC
January 2017
35 Reads

Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.

Am J Med Genet A 2017 Jan 11;173(1):190-194. Epub 2016 Nov 11.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.

Despite considerable progress in identifying causal genes for lipodystrophy syndromes, the molecular basis of some peculiar adipose tissue disorders remains obscure. In an Israeli-Arab pedigree with a novel autosomal recessive, multiple symmetric lipomatosis (MSL), partial lipodystrophy and myopathy, we conducted exome sequencing of two affected siblings to identify the disease-causing mutation. The 41-year-old female proband and her 36-year-old brother reported marked accumulation of subcutaneous fat in the face, neck, axillae, and trunk but loss of subcutaneous fat from the lower extremities and progressive distal symmetric myopathy during adulthood. Read More

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http://dx.doi.org/10.1002/ajmg.a.37880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5788284PMC
January 2017
51 Reads

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.

Seizure 2016 Nov 5;42:1-6. Epub 2016 Sep 5.

University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy.

Purpose: A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations.

Methods: The EEG-clinical picture was evaluated at epilepsy onset and in the follow-up period. Read More

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http://dx.doi.org/10.1016/j.seizure.2016.08.008DOI Listing
November 2016
19 Reads

PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis.

PLoS One 2016 9;11(9):e0162513. Epub 2016 Sep 9.

Department of Cardiovascular Medicine, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.

Mutations in the PTRF/Cavin-1 gene cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. Additionally, long-QT syndrome and fatal cardiac arrhythmia are observed in patients with CGL4 who have homozygous PTRF/Cavin-1 mutations. PTRF/Cavin-1 deficiency shows reductions of caveolae and caveolin-3 (Cav3) protein expression in skeletal muscle, and Cav3 deficiency in the heart causes cardiac hypertrophy with loss of caveolae. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0162513PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017623PMC
August 2017
47 Reads

FGF21 Improves the Adipocyte Dysfunction Related to Seipin Deficiency.

Diabetes 2016 Nov 23;65(11):3410-3417. Epub 2016 Aug 23.

INSERM UMR S1087/CNRS UMR 6291, l'Institut du Thorax, Université de Nantes, Nantes, France

Fibroblast growth factor 21 (FGF21) was shown to improve metabolic homeostasis, at least partly by controlling white adipocyte profile and adiponectin secretion. Here, we studied its effect on adipocyte dysfunction in the context of Berardinelli-Seip congenital lipodystrophy (BSCL) linked to seipin deficiency. Bscl2 mice displayed a progressive adipose tissue loss with aging as evidenced by the altered profile of residual fat pads and the decrease in adiponectin plasma levels in 12- vs. Read More

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http://dx.doi.org/10.2337/db16-0327DOI Listing
November 2016
63 Reads

Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.

Iran Biomed J 2016 Nov 25;20(5):295-301. Epub 2016 Jul 25.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075143PMC
http://dx.doi.org/10.22045/ibj.2016.07DOI Listing
November 2016
24 Reads

Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.

PLoS One 2016 8;11(7):e0158874. Epub 2016 Jul 8.

Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, Santiago de Compostela, Spain.

Objective: PELD (Progressive Encephalopathy with or without Lipodystrophy or Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the BSCL2 mutation c.985C>T, that results in an aberrant transcript without the exon 7 (Celia seipin). The aim of this study was to evaluate both the process of cellular senescence and the effect of unsaturated fatty acids on preadipocytes from a homozygous c. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0158874PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938205PMC
July 2017
21 Reads

Raptor/mTORC1 loss in adipocytes causes progressive lipodystrophy and fatty liver disease.

Mol Metab 2016 Jun 11;5(6):422-432. Epub 2016 Apr 11.

Program in Molecular Medicine, University of Massachusetts Medical School, 373 Plantation Street, Worcester, MA 01605, USA. Electronic address:

Objective: Normal adipose tissue growth and function is critical to maintaining metabolic homeostasis and its excess (e.g. obesity) or absence (e. Read More

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http://dx.doi.org/10.1016/j.molmet.2016.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4877665PMC
June 2016
7 Reads

Lipodystrophy Due to Adipose Tissue-Specific Insulin Receptor Knockout Results in Progressive NAFLD.

Diabetes 2016 08 10;65(8):2187-200. Epub 2016 May 10.

Section on Integrative Physiology and Metabolism, Joslin Diabetes Center and Department of Medicine, Harvard Medical School, Boston, MA

Ectopic lipid accumulation in the liver is an almost universal feature of human and rodent models of generalized lipodystrophy and is also a common feature of type 2 diabetes, obesity, and metabolic syndrome. Here we explore the progression of fatty liver disease using a mouse model of lipodystrophy created by a fat-specific knockout of the insulin receptor (F-IRKO) or both IR and insulin-like growth factor 1 receptor (F-IR/IGFRKO). These mice develop severe lipodystrophy, diabetes, hyperlipidemia, and fatty liver disease within the first weeks of life. Read More

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http://diabetes.diabetesjournals.org/content/diabetes/65/8/2
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http://dx.doi.org/10.2337/db16-0213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955986PMC
August 2016
25 Reads

[Molecular Pathogenesis of Nasu-Hakola Disease Brain Lesions].

Authors:
Jun-Ichi Satoh

Brain Nerve 2016 May;68(5):543-50

Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University.

Nasu-Hakola disease (NHD) is a rare intractable autosomal recessive disorder, characterized by pathological bone fractures and progressive dementia owing to multifocal bone cysts and leukoencephalopathy, caused by various genetic mutations of either DAP12 or TREM2. Loss-of-function of TREM2-DAP12, constituting a signaling complex on osteoclasts and microglia, plays a central role in the pathogenesis of NHD. Recently, NHD has been recognized as the disease entity designated "microgliopathy". Read More

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http://dx.doi.org/10.11477/mf.1416200435DOI Listing
May 2016
30 Reads

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.

Clin Dysmorphol 2016 Jul;25(3):91-7

aMikrogen Genetic Diagnosis Center bGen-Art IVF Center cDepartment of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara Departments of dHistology and Embryology eMedical Biology and Genetics, Istanbul Bilim University School of Medicine, Istanbul fDepartment of Medical Genetics, Firat University Faculty of Medicine, Elazig, Turkey.

Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A and type B. The vast majority of MAD cases are caused by LMNA gene mutations. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000132DOI Listing
July 2016
18 Reads

Barraquer-Simons syndrome: a rare form of acquired lipodystrophy.

BMC Res Notes 2016 Mar 18;9:175. Epub 2016 Mar 18.

Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar São João, Alameda Prof. Hernâni Monteiro, 4200, Porto, Portugal.

Background: Human lipodystrophies are uncommon disorders, with important clinical consequences, which are often undiagnosed. The Barraquer-Simons syndrome is a form of partial symmetric lipodystrophy of unknown etiology, characterized by the loss of subcutaneous adipose tissue, limited to upper part of the body. Insulin resistance and metabolic complications are less common than with other lipodystrophy subtypes. Read More

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http://dx.doi.org/10.1186/s13104-016-1975-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797229PMC
March 2016
42 Reads

Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl.

BMC Pediatr 2016 Mar 14;16:38. Epub 2016 Mar 14.

MEDGEN Medical Center, Orzycka 27, 02-695, Warsaw, Poland.

Background: Familial partial lipodystrophy of the Dunnigan type (FPLD 2) is a rare autosomal dominant disorder caused by the mutations of the lamin A/C gene leading to the defective adipogenesis, premature death of adipocytes and lipotoxicity. FPLD 2 is characterized by a progressive loss of subcutaneous adipose tissue in the limbs and trunk, and accumulation of body fat in the face and neck with accompanying severe metabolic derangements including insulin resistance, glucose intolerance, diabetes, dyslipidemia, steatohepatitis. Clinical presentation of FPLD 2 can often lead to misdiagnosis with metabolic syndrome, type 2 diabetes or Cushing syndrome. Read More

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http://dx.doi.org/10.1186/s12887-016-0581-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790055PMC
March 2016
8 Reads

Progressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1.

J Clin Endocrinol Metab 2016 Apr 18;101(4):1344-7. Epub 2016 Feb 18.

Endocrinology Department (E.S.), IM Sechenov First Moscow State Medical University, 119991 Moscow, Russia; Outpatient Clinic (E.F.), Gastroenterology Department (D.R., S.P.), and Healthy and Sick Child Nutrition Department (E.R.), Scientific Center for Children's Health, 119991 Moscow, Russia; Department and Laboratory of Inherited Endocrine Disorders (E.V., V.P., A.T.), Endocrinology Research Centre, 117036 Moscow, Russia; and Laboratory of Molecular Endocrinology of Medical Scientific Educational Centre of Lomonosov (A.T.), Moscow State University, 119991 Moscow, Russia.

We describe APS1 in a boy with generalized lipodystrophy, oral candidiasis, autoimmune hepatitis and adrenal insufficiency. It is the first time when generalized lipodystrophy is associated with APS1. Read More

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http://dx.doi.org/10.1210/jc.2015-3722DOI Listing
April 2016
9 Reads

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

J Clin Invest 2015 Nov 20;125(11):4196-211. Epub 2015 Oct 20.

Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the inducible proteasome subunit β5i, cause the immune-dysregulatory disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), which is classified as a proteasome-associated autoinflammatory syndrome (PRAAS). Here, we identified 8 mutations in 4 proteasome genes, PSMA3 (encodes α7), PSMB4 (encodes β7), PSMB9 (encodes β1i), and proteasome maturation protein (POMP), that have not been previously associated with disease and 1 mutation in PSMB8 that has not been previously reported. One patient was compound heterozygous for PSMB4 mutations, 6 patients from 4 families were heterozygous for a missense mutation in 1 inducible proteasome subunit and a mutation in a constitutive proteasome subunit, and 1 patient was heterozygous for a POMP mutation, thus establishing a digenic and autosomal dominant inheritance pattern of PRAAS. Read More

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http://dx.doi.org/10.1172/JCI81260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639987PMC
November 2015
90 Reads
23 Citations
13.215 Impact Factor

Case of Rapid Progression of Hemiatrophy on the Face: A New Clinical Entity?

Case Rep Dermatol Med 2015 25;2015:478640. Epub 2015 Aug 25.

Department of Dermatology, Shizuoka Municipal Shimizu Hospital, 1231 Miyakami, Shimizu-ku Shizuoka 424-0911, Japan.

A lot of diseases, including lupus profundus, morphea, lipodystrophy, and Parry-Romberg syndrome, may manifest progressive hemifacial atrophy. These diseases usually progress slowly and rapid progression of atrophy is extremely rare. We report a case of elderly-onset rapid progression of hemifacial atrophy only in three weeks. Read More

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http://downloads.hindawi.com/journals/cridm/2015/478640.pdf
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http://dx.doi.org/10.1155/2015/478640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561931PMC
September 2015
9 Reads

TREM2 mRNA Expression in Leukocytes Is Increased in Alzheimer's Disease and Schizophrenia.

PLoS One 2015 2;10(9):e0136835. Epub 2015 Sep 2.

Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.

Unlabelled: TREM2 and TYROBP are causal genes for Nasu-Hakola disease (NHD), a rare autosomal recessive disease characterized by bone lesions and early-onset progressive dementia. TREM2 forms a receptor signaling complex with TYROBP, which triggers the activation of immune responses in macrophages and dendritic cells, and the functional polymorphism of TREM2 is reported to be associated with neurodegenerative disorders such as Alzheimer's disease (AD). The objective of this study was to reveal the involvement of TYROBP and TREM2 in the pathophysiology of AD and schizophrenia. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0136835PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557831PMC
May 2016
18 Reads

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.

Neurobiol Dis 2015 Nov 15;83:44-53. Epub 2015 Aug 15.

CIMUS Biomedical Research Institute, University of Santiago de Compostela-IDIS, 15782 Santiago de Compostela, Spain; Department of Medicine, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain. Electronic address:

Celia's Encephalopathy (MIM #615924) is a recently discovered fatal neurodegenerative syndrome associated with a new BSCL2 mutation (c.985C>T) that results in an aberrant isoform of seipin (Celia seipin). This mutation is lethal in both homozygosity and compounded heterozygosity with a lipodystrophic BSCL2 mutation, resulting in a progressive encephalopathy with fatal outcomes at ages 6-8. Read More

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http://dx.doi.org/10.1016/j.nbd.2015.08.006DOI Listing
November 2015
33 Reads