973 results match your criteria Refsum Disease


The kynurenine pathway and cognitive performance in community-dwelling older adults. The Hordaland Health Study.

Brain Behav Immun 2019 Jan 25;75:155-162. Epub 2018 Oct 25.

Department of Internal Medicine, Haraldsplass Deaconess Hospital, Bergen, Norway; Institute of Clinical Science, University of Bergen, Norway.

Introduction: Tryptophan, its downstream metabolites in the kynurenine pathway and neopterin have been associated with inflammation and dementia. We aimed to study the associations between plasma levels of these metabolites and cognitive function in community-dwelling, older adults.

Methods: This cross-sectional study included 2174 participants aged 70-72 years of the community-based Hordaland Health Study. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08891591183074
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http://dx.doi.org/10.1016/j.bbi.2018.10.003DOI Listing
January 2019
3 Reads

Inborn Errors of Metabolism: Refsum Disease.

Adv Exp Med Biol 2018 ;1085:191-192

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Patient with Refsum disease present with nyctalopia, and the fundus shows progressive panretinal degeneration. Vision gradually decreases, with progressive peripheral constriction. The pupil usually does not dilate well. Read More

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http://link.springer.com/10.1007/978-3-319-95046-4_39
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http://dx.doi.org/10.1007/978-3-319-95046-4_39DOI Listing
January 2018
6 Reads

Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans.

Subcell Biochem 2018 ;89:345-365

Laboratory Genetic Metabolic Diseases, Departments Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

Peroxisomes catalyze a number of essential metabolic functions and impairments in any of these are usually associated with major clinical signs and symptoms. In contrast to mitochondria which are autonomous organelles that can catalyze the degradation of fatty acids, certain amino acids and other compounds all by themselves, peroxisomes are non-autonomous organelles which are highly dependent on the interaction with other organelles and compartments to fulfill their role in metabolism. This includes mitochondria, the endoplasmic reticulum, lysosomes, and the cytosol. Read More

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http://link.springer.com/10.1007/978-981-13-2233-4_15
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http://dx.doi.org/10.1007/978-981-13-2233-4_15DOI Listing
January 2018
2 Reads

Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

J Biochem 2019 Jan;165(1):67-73

Biochemical Genetics, Sandor Life Sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.

We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using gas chromatography-mass spectrometry following stable isotope dilution. These data were used to construct association rules and for recursive partitioning. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/jb/mvy085DOI Listing
January 2019
5 Reads

An overview of epidermal lamellar bodies: Novel roles in biological adaptations and secondary barriers.

J Dermatol Sci 2018 Oct 8;92(1):10-17. Epub 2018 Mar 8.

Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea.

The epidermal lamellar bodies (LBs) are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides. Thus, the LB secretory system, by virtue of delivering these cargoes to the stratum corneum (SC) interstices, is essential for forming the various skin barriers located in the SC. Ultrastructural studies have suggested that the morphologic features of LBs reflect the functional status of the SC. Read More

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http://dx.doi.org/10.1016/j.jdermsci.2018.03.005DOI Listing
October 2018
1 Read

The risk association of plasma total homocysteine with acute myocardial infarction is modified by serum vitamin A.

Eur J Prev Cardiol 2018 Oct 17;25(15):1612-1620. Epub 2018 Jul 17.

2 Department of Heart Disease, Haukeland University Hospital, Bergen, Norway.

Background Plasma total homocysteine (tHcy) has been implicated in the development of cardiovascular disease, but the mechanisms remain unclear. Vitamin A (Vit-A) is involved in homocysteine metabolism and we therefore explored the potential interaction between plasma tHcy and serum Vit-A in relation to incident acute myocardial infarction. Methods Cox proportional hazards models were used to assess the prospective relationships between tHcy and acute myocardial infarction in 2205 patients from Western Norway undergoing elective coronary angiography for suspected stable angina pectoris. Read More

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http://dx.doi.org/10.1177/2047487318788587DOI Listing
October 2018
10 Reads

Laboratory investigations.

Handb Clin Neurol 2018 ;154:287-298

Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland; Departments of Neurology and Ophthalmology, University Hospital Zurich, University of Zurich, Switzerland.

This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind. Read More

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https://linkinghub.elsevier.com/retrieve/pii/B97804446395610
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http://dx.doi.org/10.1016/B978-0-444-63956-1.00017-5DOI Listing
September 2018
11 Reads

A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D.

J Clin Neurosci 2018 Jul 30;53:231-234. Epub 2018 Apr 30.

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100050, China. Electronic address:

Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese man with a homozygous mutation c. Read More

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http://dx.doi.org/10.1016/j.jocn.2018.04.024DOI Listing
July 2018
2 Reads

Current and Promising Therapies in Autosomal Recessive Ataxias.

CNS Neurol Disord Drug Targets 2018 ;17(3):161-171

Department of Medicine, Faculty of Medicine, Laval University and CHU de Quebec-Laval University, Axe Neurosciences, 1401, 18th Street, Quebec, QC, Canada.

Background & Objective: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Read More

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http://dx.doi.org/10.2174/1871527317666180419115029DOI Listing
January 2018
4 Reads

Reversible vestibular neuropathy in adult Refsum disease.

Neurology 2018 May 6;90(19):890-892. Epub 2018 Apr 6.

From the Institute of Clinical Neurosciences (R.L.T., S.K.J., A.S.Y., G.M.H., M.S.W.) and Department of Clinical Biochemistry (D.S.), Royal Prince Alfred Hospital, and Faculty of Medicine (D.S.), Central Clinical School, University of Sydney; and The Balance Clinic and Laboratory (A.S.Y., M.S.W.), Sydney, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000005472DOI Listing
May 2018
4 Reads

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).

Ultrastruct Pathol 2018 May-Jun;42(3):220-227. Epub 2018 Feb 26.

c Genetics Division, Department of Pediatrics, Keck School of Medicine , University of Southern California , Los Angeles , California , USA.

Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger syndrome) and milder phenotypes [neonatal adrenoleukodystrophy and infantile Refsum disease (IRD)]. ZSD are characterized by impaired peroxisomal functions and lack of peroxisomes detected by electron microscopy (EM). ZSD are caused by mutations in any of the 14 PEX genes. Read More

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http://dx.doi.org/10.1080/01913123.2018.1440272DOI Listing
October 2018
14 Reads

Homocysteine and Dementia: An International Consensus Statement.

J Alzheimers Dis 2018 ;62(2):561-570

Department of Clinical Chemistry and Laboratory Medicine, University Hospital of the Saarland, Germany.

Identification of modifiable risk factors provides a crucial approach to the prevention of dementia. Nutritional or nutrient-dependent risk factors are especially important because dietary modifications or use of dietary supplements may lower the risk factor level. One such risk factor is a raised concentration of the biomarker plasma total homocysteine, which reflects the functional status of three B vitamins (folate, vitamins B12, B6). Read More

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http://dx.doi.org/10.3233/JAD-171042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836397PMC
February 2019
2 Reads

Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.

Pediatr Transplant 2018 05 16;22(3):e13112. Epub 2018 Feb 16.

Service de Gastro-Entérologie et Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

Mild Zellweger spectrum disorder, also described as Infantile Refsum disease, is attributable to mutations in PEX genes. Its clinical course is characterized by progressive hearing and vision loss, and neurodevelopmental regression. Supportive management is currently considered the standard of care, as no treatment has shown clinical benefits. Read More

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http://dx.doi.org/10.1111/petr.13112DOI Listing
May 2018
5 Reads

Lipidomic Analysis: From Archaea to Mammals.

Lipids 2018 01 15;53(1):5-25. Epub 2018 Feb 15.

Institute of Microbiology, Academy of Sciences of the Czech Republic, Vídeňská 1083, Prague, 142 20, Czech Republic.

Lipids are among the most important organic compounds found in all living cells, from primitive archaebacteria to flowering plants or mammalian cells. They form part of cell walls and constitute cell storage material. Their biosynthesis and metabolism play key roles in faraway topics such as biofuel production (third-generation biofuels produced by microorganisms, e. Read More

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http://dx.doi.org/10.1002/lipd.12001DOI Listing
January 2018
1 Read

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

J Pediatr Genet 2018 Mar 4;7(1):1-8. Epub 2018 Jan 4.

Department of Otolaryngology - Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States.

Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF. Read More

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http://dx.doi.org/10.1055/s-0037-1617454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809162PMC
March 2018
2 Reads

Cataract surgery outcomes and complications in retinal dystrophy patients.

Can J Ophthalmol 2017 Dec 22;52(6):543-547. Epub 2017 Jul 22.

Cornea and Refractive Surgery Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.

Objective: To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery.

Design: Retrospective chart review at an academic tertiary referral centre.

Participants: Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00084182163102
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http://dx.doi.org/10.1016/j.jcjo.2017.04.002DOI Listing
December 2017
19 Reads

The relation of CUN-BAE index and BMI with body fat, cardiovascular events and diabetes during a 6-year follow-up: the Hordaland Health Study.

Clin Epidemiol 2017 8;9:555-566. Epub 2017 Nov 8.

Department of Pharmacology, University of Oxford, Oxford, UK.

Objective: We compared Clínica Universidad de Navarra-Body Adiposity Estimator (CUN-BAE) and body mass index (BMI) as correlates of body fat percent (BF%) and the association with future risk of cardiovascular disease (CVD) and type 2 diabetes in a Caucasian population.

Methods: We used data from 6796 individuals (born 1925-27 and 1950-52) from the Hordaland Health Study, a prospective cohort study in Norway. The study was conducted in 1992-1993 and 1997-1999. Read More

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http://dx.doi.org/10.2147/CLEP.S145130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685095PMC
November 2017
3 Reads

Dementia Prevention by Disease-Modification through Nutrition.

Authors:
A D Smith H Refsum

J Prev Alzheimers Dis 2017 ;4(3):138-139

Prof. A. David Smith, Department of Pharmacology, Mansfield Rd. Oxford OX1 3QT. Tel: +44-1865-271617; Fax: +44-1865-271853. Email:

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http://dx.doi.org/10.14283/jpad.2017.16DOI Listing
January 2017
1 Read

Phytyl fatty acid esters in vegetables pose a risk for patients suffering from Refsum's disease.

PLoS One 2017 13;12(11):e0188035. Epub 2017 Nov 13.

Institute of Food Chemistry, University of Hohenheim, Stuttgart, Germany.

Patients suffering from Refsum's disease show mutations in the enzyme necessary for the degradation of phytanic acid. Accumulation of this tetramethyl-branched fatty acid in inner organs leads to severe neurological and cardiac dysfunctions which can even result in death. Thus, patients with Refsum's disease have to follow a specific diet resigning foods with high levels of phytanic acid and trans-phytol like products from ruminant animals with a tolerable daily intake (TDI) of ≤ 10 mg/d. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0188035PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683611PMC
December 2017
1 Read

Kynurenine Pathway Metabolites in Alzheimer's Disease.

J Alzheimers Dis 2017 ;60(2):495-504

Department of Clinical Science, University of Bergen, Norway.

Background: Metabolites of tryptophan, produced via the kynurenine pathway (kynurenines), have been linked to Alzheimer's disease (AD) in small cohorts with conflicting results.

Objective: To compare differences in plasma kynurenine levels between AD and controls and identify potential associations with cognition.

Methods: The study included 65 histopathologically-confirmed AD patients and 65 cognitively-screened controls from the Oxford Project to Investigate Memory and Ageing (OPTIMA) cohort. Read More

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http://dx.doi.org/10.3233/JAD-170485DOI Listing
April 2018
18 Reads

Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.

Hum Mutat 2017 11 23;38(11):1569-1578. Epub 2017 Aug 23.

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, China.

Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal-recessive demyelinating form of CMT characterized by a severe distal motor and sensory neuropathy. NDRG1 is the causative gene for CMT4D. To date, only four mutations in NDRG1 -c. Read More

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http://dx.doi.org/10.1002/humu.23309DOI Listing
November 2017
1 Read

Cardiovascular disease risk associated with serum apolipoprotein B is modified by serum vitamin A.

Atherosclerosis 2017 10 21;265:325-330. Epub 2017 Jul 21.

Department of Heart Disease, Haukeland University Hospital, 5021 Bergen, Norway; KG Jebsen Centre for Diabetes Research, University of Bergen, 5009 Bergen, Norway; Department of Clinical Science, Faculty of Medicine, University of Bergen, 5021 Bergen, Norway.

Background And Aims: Apolipoproteins B (apoB) and A1 (apoA1) are major protein constituents of low-density and high-density lipoproteins, respectively, and serum concentrations of these apolipoproteins are associated with risk of atherosclerosis. Vitamin A (VA) has been implicated in lipoprotein metabolism. We evaluated the associations of serum apoB, apoA1 and their ratio (apoBAR) with risk of incident acute myocardial infarction (AMI) and the possible modification by serum VA. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2017.07.020DOI Listing
October 2017
9 Reads

Cochlear Implantation in Siblings With Refsum's Disease.

Ann Otol Rhinol Laryngol 2017 Aug 6;126(8):611-614. Epub 2017 Jul 6.

1 Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Essen, Essen, Germany.

Objectives: Whether the origin of severe hearing loss in Refsum's syndrome is caused by cochlear impairment or retrocochlear degeneration remains unclear. This case report aims to investigate hearing performance before and after cochlear implantation to shed light on this question. Also, identification of new mutations causing Refsum's syndrome would be helpful in generating additional means of diagnosis. Read More

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http://dx.doi.org/10.1177/0003489417717269DOI Listing
August 2017
28 Reads

Phytol-induced pathology in 2-hydroxyacyl-CoA lyase (HACL1) deficient mice. Evidence for a second non-HACL1-related lyase.

Biochim Biophys Acta Mol Cell Biol Lipids 2017 Sep 17;1862(9):972-990. Epub 2017 Jun 17.

LIPIT, Department of Cellular and Molecular Medicine, KU Leuven, Belgium. Electronic address:

2-Hydroxyacyl-CoA lyase (HACL1) is a key enzyme of the peroxisomal α-oxidation of phytanic acid. To better understand its role in health and disease, a mouse model lacking HACL1 was investigated. Under normal conditions, these mice did not display a particular phenotype. Read More

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http://dx.doi.org/10.1016/j.bbalip.2017.06.004DOI Listing
September 2017
5 Reads
5.162 Impact Factor

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.

Mol Genet Metab 2017 07 6;121(3):279-282. Epub 2017 May 6.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, 1105, AZ, The Netherlands.

Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5. Elevated levels of both phytanic and pristanic acid are found in patients with Zellweger Spectrum Disorders, and pristanic acid is elevated in patients with α-methylacyl-CoA racemase deficiency. For the diagnosis of peroxisomal disorders, a variety of metabolites can be measured in blood samples from suspected patients, including very long-chain fatty acids, phytanic and pristanic acid. Read More

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http://dx.doi.org/10.1016/j.ymgme.2017.05.003DOI Listing
July 2017
8 Reads

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Methods Mol Biol 2017 ;1595:329-342

Department Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Read More

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http://dx.doi.org/10.1007/978-1-4939-6937-1_30DOI Listing
May 2017
6 Reads

Recent advances in liver transplantation for metabolic disease.

Authors:
P J Mc Kiernan

J Inherit Metab Dis 2017 07 6;40(4):491-495. Epub 2017 Feb 6.

Division of Gastroenterology/Hepatology/Nutrition Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, University of Pitttsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.

The indications and outcomes of liver transplantation for metabolic disease have been reviewed recently and this short review concentrates on recent developments and advances. Recently recognized metabolic causes of acute liver failure are reviewed and their implications for transplantation discussed. Newly described indications for liver transplantation in systemic metabolic diseases are described and an update is given on the role of auxiliary and domino liver transplantation. Read More

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http://dx.doi.org/10.1007/s10545-017-0020-zDOI Listing

HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

J Hum Genet 2017 Mar 22;62(3):431-435. Epub 2016 Dec 22.

Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p. Read More

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http://dx.doi.org/10.1038/jhg.2016.148DOI Listing
March 2017
14 Reads

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

J Peripher Nerv Syst 2017 03;22(1):47-50

Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

Charcot-Marie-Tooth disease type 4D (CMT4D), also known as hereditary motor and sensory neuropathy Lom type (HMSNL), is an autosomal recessive, early onset, severe demyelinating neuropathy with hearing loss, caused by N-Myc downstream-regulated gene 1 (NDRG1) mutations. CMT4D is rare with only three known mutations, one of which (p.Arg148Ter) is found in patients of Romani ancestry and accounts for the vast majority of cases. Read More

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http://doi.wiley.com/10.1111/jns.12201
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http://dx.doi.org/10.1111/jns.12201DOI Listing
March 2017
14 Reads

Phytanic acid consumption and human health, risks, benefits and future trends: A review.

Food Chem 2017 Apr 18;221:237-247. Epub 2016 Oct 18.

Departamento de Quimica Analitica, Nutricion y Bromatologia, Facultad de Veterinaria, Universidade de Santiago de Compostela, Pabellón 4, Planta Baja, 27002 Lugo, Spain.

Phytanic acid is a methyl-branched fatty acid present in the human diet, derived from the enzymatic degradation of phytol and subsequently oxidized by the rumenal microbiota and certain marine organisms. Consequently, phytanic acid is carried into the human body by means of food ingestion, mostly via red meat, dairy products and fatty marine foods. This fatty acid accumulates in people with some peroxisomal disorders and is traditionally related to neurological damage. Read More

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http://dx.doi.org/10.1016/j.foodchem.2016.10.074DOI Listing
April 2017
6 Reads

Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated γ-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease.

Pediatr Res 2017 03 25;81(3):531-536. Epub 2016 Nov 25.

Department of Pharmacology and Toxicology, Faculty of Medicine, Kuwait University, Kuwait.

Background: Infantile Refsum disease (IRD), a peroxisomal disease with defective phytanic acid oxidation, causes neurological impairment and development delay. Insulin-like growth factor-1 (IGF-1) regulates child development and to understand molecular mechanism(s) of IRD, we examined the effect of phytanic acid (PA) on IGF-1 activity.

Methods: Bromodeoxyuridine (BrdU) incorporation was measured in rat aortic smooth muscle cell (SMC) cultures following treatment with fetal bovine serum (FBS), basic fibroblast growth factor (bFGF), platelet-derived growth factor (PDGF) or IGF-1 in the absence or presence of PA. Read More

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http://www.nature.com/articles/pr2016258
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http://dx.doi.org/10.1038/pr.2016.258DOI Listing
March 2017
7 Reads

Lipid profiles in schizophrenia associated with clinical traits: a five year follow-up study.

BMC Psychiatry 2016 08 25;16:299. Epub 2016 Aug 25.

NORMENT, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Background: Alterations in serum and membrane lipids may be involved in schizophrenia pathophysiology. It is not known whether lipid profiles are associated with disease severity or current symptom level.

Methods: Clinical and lipid data were gathered from 55 patients with schizophrenia admitted to psychiatric emergency wards in an acute stage of the disease (T1). Read More

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http://dx.doi.org/10.1186/s12888-016-1006-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000423PMC
August 2016
11 Reads

Understanding the Relationship Between Teacher Behavior and Motivation in Students with Acquired Deafblindness.

Am Ann Deaf 2016 ;161(3):314-26

Because little is known about teacher-student relationships that involve students with acquired deafblindness, the authors performed a multiple case study with a multiple-method design to investigate the relationship between need-supportive teaching behaviors and student engagement. Using self-determination theory (Deci & Ryan, 2000), they analyzed video observations of interactions. It was found that teachers' provision of structure, autonomy support, and involvement often cooccurs with higher levels of student engagement. Read More

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https://muse.jhu.edu/article/627248
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http://dx.doi.org/10.1353/aad.2016.0024DOI Listing
August 2017
9 Reads

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.

Authors:
M Arias

Neurologia 2016 Jul 23. Epub 2016 Jul 23.

Servicio de Neurología, Complexo Hospitalario Universitario, Santiago de Compostela, España. Electronic address:

Introduction: Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies, endocrinopathies, skeletal deformities, and skin abnormalities).

Development: This study reviews current knowledge of the most common forms of autosomal recessive spinocerebellar ataxia in order to provide tips that may facilitate diagnosis. Read More

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http://dx.doi.org/10.1016/j.nrl.2016.06.006DOI Listing
July 2016
4 Reads

Homocysteine, B Vitamins, and Cognitive Impairment.

Annu Rev Nutr 2016 07;36:211-39

OPTIMA, Department of Pharmacology, University of Oxford, Oxford OX1 3QT, United Kingdom; email:

Moderately elevated plasma total homocysteine (tHcy) is a strong modifiable risk factor for vascular dementia and Alzheimer's disease. Prospectively, elevated tHcy is associated with cognitive decline, white matter damage, brain atrophy, neurofibrillary tangles, and dementia. Most homocysteine-lowering trials with folate and vitamins B6 and/or B12 tested as protective agents against cognitive decline were poorly designed by including subjects unlikely to benefit during the trial period. Read More

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http://dx.doi.org/10.1146/annurev-nutr-071715-050947DOI Listing
July 2016
8 Reads

Phytanic acid activates NADPH oxidase through transactivation of epidermal growth factor receptor in vascular smooth muscle cells.

Lipids Health Dis 2016 Jun 10;15:105. Epub 2016 Jun 10.

Pharmacology and Toxicology, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

Background: Phytanic acid (PA) has been implicated in development of cancer and its defective metabolism is known to cause life-threatening conditions, such as Refsum disease, in children. To explore molecular mechanisms of phytanic acid-induced cellular pathology, we investigated its effect on NADPH oxidase (NOX) and epidermal growth factor receptor (EGFR) in rat aortic smooth muscle cells (RASMC).

Methods: Smooth muscle cells were isolated from rat aortae using enzymic digestion with collagenase and elastase. Read More

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http://dx.doi.org/10.1186/s12944-016-0273-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902935PMC
June 2016
11 Reads

Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease.

Pediatrics 2016 06;137(6)

Organ Transplantation Center, and.

Infantile Refsum disease (IRD) is a rare autosomal recessive disorder of peroxisome biogenesis characterized by generalized peroxisomal metabolic dysfunction, including accumulation of very long-chain fatty acids (VLCFAs) and phytanic acid (PA), as well as decreased plasmalogen contents (PL). An effective therapy for this intractable disease has not been established, and only supportive management with docosahexaenoic acid supplementation and low PA diet has been reported so far. A boy of 3 years and 8 months presented with facial dysmorphism, transaminitis, and psychomotor retardation. Read More

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http://dx.doi.org/10.1542/peds.2015-3102DOI Listing
June 2016
10 Reads

Association of Vitamin B12, Folate, and Sulfur Amino Acids With Brain Magnetic Resonance Imaging Measures in Older Adults: A Longitudinal Population-Based Study.

JAMA Psychiatry 2016 06;73(6):606-13

Center for Alzheimer Research-Aging Research Center, Karolinska Institutet, Stockholm University, Stockholm, Sweden.

Importance: Vitamin B12, folate, and sulfur amino acids may be modifiable risk factors for structural brain changes that precede clinical dementia.

Objective: To investigate the association of circulating levels of vitamin B12, red blood cell folate, and sulfur amino acids with the rate of total brain volume loss and the change in white matter hyperintensity volume as measured by fluid-attenuated inversion recovery in older adults.

Design, Setting, And Participants: The magnetic resonance imaging subsample of the Swedish National Study on Aging and Care in Kungsholmen, a population-based longitudinal study in Stockholm, Sweden, was conducted in 501 participants aged 60 years or older who were free of dementia at baseline. Read More

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http://dx.doi.org/10.1001/jamapsychiatry.2016.0274DOI Listing
June 2016
15 Reads

Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy.

Aging Dis 2016 Mar 15;7(2):136-49. Epub 2016 Mar 15.

Institut für Neurobiochemie (Institut für Inflammation und Neurodegeneration), Medizinische Fakultät der Otto-von-Guericke-Universität Magdeburg, Magdeburg, Germany.

It is increasingly understood that in the aging brain, especially in the case of patients suffering from neurodegenerative diseases, some fatty acids at pathologically high concentrations exert detrimental activities. To study such activities, we here analyze genetic diseases, which are due to compromised metabolism of specific fatty acids, either the branched-chain phytanic acid or very long-chain fatty acids (VLCFAs). Micromolar concentrations of phytanic acid or of VLCFAs disturb the integrity of neural cells by impairing Ca(2+) homeostasis, enhancing oxidative stress or de-energizing mitochondria. Read More

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http://dx.doi.org/10.14336/AD.2015.0823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809606PMC
March 2016
17 Reads

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

BMJ Case Rep 2016 Apr 18;2016:10.1136/bcr-2015-214283. Epub 2016 Apr 18.

Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

Peroxisome biogenesis disorders are related to a spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterised by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defects. Increased levels of very long chain fatty acids are the biochemical hallmark and the most common mutations found in the PEX1 gene. Read More

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http://dx.doi.org/10.1136/bcr-2015-214283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840729PMC
April 2016
4 Reads

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Neuropediatrics 2016 Aug 18;47(4):205-20. Epub 2016 Apr 18.

Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Peroxisomal disorders are a heterogeneous group of genetic metabolic disorders, caused by a defect in peroxisome biogenesis or a deficiency of a single peroxisomal enzyme. The peroxisomal disorders include the Zellweger spectrum disorders, the rhizomelic chondrodysplasia punctata spectrum disorders, X-linked adrenoleukodystrophy, and multiple single enzyme deficiencies. There are several core phenotypes caused by peroxisomal dysfunction that clinicians can recognize. Read More

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http://dx.doi.org/10.1055/s-0036-1582140DOI Listing
August 2016
16 Reads

[Muscular Dystrophies Involving the Retinal Function].

Authors:
H Jägle

Klin Monbl Augenheilkd 2016 Mar 24;232(3):251-6. Epub 2016 Mar 24.

Klinik und Poliklinik für Augenheilkunde, Universitätsklinikum Regensburg.

Muscular dystrophies are rare disorders, with an incidence of approx. 20 in 100 000. Some dystrophies also affect retinal or optic nerve function. Read More

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http://dx.doi.org/10.1055/s-0042-101555DOI Listing

Inherited ichthyosis: Syndromic forms.

Authors:
Kozo Yoneda

J Dermatol 2016 Mar;43(3):252-63

Department of Dermatology, Faculty of Medicine, Kagawa University, Kagawa, Japan.

Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. Read More

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http://dx.doi.org/10.1111/1346-8138.13284DOI Listing
March 2016
8 Reads

Ocular manifestations of genetic skin disorders.

Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2.

The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.

Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2015.11.008DOI Listing
December 2016
8 Reads

HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.

Clin Genet 2016 08 4;90(2):161-5. Epub 2016 Mar 4.

DNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G, is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients with Roma origin, we realized that HMSNR affects surprisingly many patients in the Czech Republic. Read More

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http://dx.doi.org/10.1111/cge.12745DOI Listing
August 2016
5 Reads

Safety of long-term restrictive diets for peroxisomal disorders: vitamin and trace element status of patients treated for Adult Refsum Disease.

Int J Clin Pract 2016 Mar 22;70(3):229-35. Epub 2016 Jan 22.

Adult Refsum Disease Clinic, Chelsea & Westminster Hospital, London, UK.

Background: Adult Refsum's Disease (ARD) is caused by defects in the pathway for alpha-oxidation of phytanic acid (PA). Treatment involves restricting the dietary intake of phytanic acid by reducing the intake of dairy-derived fat. The adequacy of micronutrient intake in patients with ARD is unknown. Read More

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http://dx.doi.org/10.1111/ijcp.12770DOI Listing
March 2016
3 Reads

Omega-3 Fatty Acid Status Enhances the Prevention of Cognitive Decline by B Vitamins in Mild Cognitive Impairment.

J Alzheimers Dis 2016 ;50(2):547-57

Division of Geriatric Medicine, Department of Medicine, Faculty of Health Sciences, University of Cape Town, South Africa.

A randomized trial (VITACOG) in people with mild cognitive impairment (MCI) found that B vitamin treatment to lower homocysteine slowed the rate of cognitive and clinical decline. We have used data from this trial to see whether baseline omega-3 fatty acid status interacts with the effects of B vitamin treatment. 266 participants with MCI aged ≥70 years were randomized to B vitamins (folic acid, vitamins B6 and B12) or placebo for 2 years. Read More

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http://dx.doi.org/10.3233/JAD-150777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4927899PMC
November 2016
23 Reads

Conventional and advanced MR imaging in infantile Refsum disease.

Turk J Pediatr 2015 May-Jun;57(3):294-9

Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

We report magnetic resonance (MR) imaging findings including diffusion-weighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease. The initial diagnosis was made on the basis of history, clinical findings and biochemical studies. Bilateral and symmetrical involvement of the peritrigonal white matter, centrum semiovale, thalami, corpus callosum and corticospinal tracts as assessed by increased T2 signal was highly suggestive of a peroxisomal disorder. Read More

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August 2016
6 Reads