1,839 results match your criteria Hereditary Spastic Paraplegia


A new case of infantile-onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family.

Eur J Neurol 2019 May;26(5):e61-e62

Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russian Federation.

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http://dx.doi.org/10.1111/ene.13880DOI Listing

Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia.

J Rehabil Med 2019 Apr 10. Epub 2019 Apr 10.

Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, 6541GX Nijmegen, The Netherlands.

Objective: To investigate the functional effects of bilateral botulinum toxin A treatment and subsequent stretching of spastic hip adductors on gait and reactive lateral stepping responses in patients with pure hereditary spastic paraplegia.

Design: Explorative pre-post intervention study.

Patients: Twenty-five patients with pure hereditary spastic paraplegia. Read More

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http://dx.doi.org/10.2340/16501977-2556DOI Listing
April 2019
1 Read

Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C.

J Clin Neurosci 2019 Apr 5. Epub 2019 Apr 5.

Institute of Medical Genetics, Head of the Section "Clinical Genetics", Medical School of Vienna, Vienna, Austria. Electronic address:

Objective: Hereditary spastic paraplegia type-IV (HSP4) is the most common of the autosomal-dominant HSPs. Though urinary dysfunction is a frequent phenotypic feature, long-term pollakisuria as the initial manifestation of HSP4 has not been reported.

Case Report: The patient is a 56yo female with an uneventful history until age 46y, when she developed pollakisuria. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09675868193038
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http://dx.doi.org/10.1016/j.jocn.2019.03.067DOI Listing
April 2019
2 Reads

A Novel Homozygous Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia.

J Clin Neurol 2019 Apr;15(2):271-272

Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

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http://dx.doi.org/10.3988/jcn.2019.15.2.271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444155PMC

Re: Comments on "Pure or Complex Hereditary Spastic Paraplegia Type 4?": The Authors Respond.

J Clin Neurol 2019 Apr;15(2):267

Department of Neurology, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.

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http://dx.doi.org/10.3988/jcn.2019.15.2.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444140PMC

Longitudinal quantitative MRI in adrenomyeloneuropathy.

Eur J Neurol 2019 Apr 1. Epub 2019 Apr 1.

UOC Malattie Neurodegenerative e Neurometaboliche Rare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

Background: Adrenomyeloneuropathy (AMN) is the most frequent metabolic hereditary spastic paraplegia. Accordingly, its main site of pathological changes is the spinal cord. It is difficult to quantify AMN progression, because commonly used clinical scales have limitations, and reliable biomarkers are lacking. Read More

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http://dx.doi.org/10.1111/ene.13959DOI Listing
April 2019
1 Read

A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five.

Neurobiol Dis 2019 Mar 28;127:419-431. Epub 2019 Mar 28.

Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena 07747, Germany. Electronic address:

Hereditary spastic paraplegia is a spastic gait disorder that arises from degeneration of corticospinal axons. The subtype SPG48 is associated with mutations in the zeta subunit of the adaptor protein complex five (AP5). AP5 function and the pathophysiology of SPG48 are only poorly understood. Read More

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http://dx.doi.org/10.1016/j.nbd.2019.03.026DOI Listing
March 2019
2 Reads
5.078 Impact Factor

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Am J Hum Genet 2019 Apr 28;104(4):767-773. Epub 2019 Mar 28.

Persian BayanGene Research and Training Center, Shiraz, Iran; Center for Therapeutic Innovation and Department of Psychiatry and Behavioral Sciences, University of Miami, Miami, FL 33136 USA. Electronic address:

The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes have only been identified in a few families worldwide. Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1 (ubiquitin-associated protein 1). Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451742PMC
April 2019
2 Reads

A novel variant causes pure hereditary spastic paraplegia with benign clinical course.

Ann Clin Transl Neurol 2019 Mar 4;6(3):610-614. Epub 2019 Jan 4.

Department of Neurology Peking University People's Hospital Beijing China.

Hereditary spastic paraplegia 73 (SPG73) was currently identified in only one family with variant in the neuronal isoform of carnitine palmitoyl-transferase 1C () gene. We described a new family, in which affected individuals exhibited pure hereditary spastic paraplegia with benign clinical course. Exome sequencing revealed a novel nonsense variant in the gene. Read More

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http://dx.doi.org/10.1002/acn3.717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414484PMC
March 2019
1 Read

Pure or Complex Hereditary Spastic Paraplegia Type 4?

Authors:
Josef Finsterer

J Clin Neurol 2019 Apr 11;15(2):265-266. Epub 2019 Mar 11.

Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.3988/jcn.2019.15.2.265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444139PMC

GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association.

Eur J Paediatr Neurol 2019 03;23(2):233-234

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genova, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798193006
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http://dx.doi.org/10.1016/j.ejpn.2019.02.010DOI Listing
March 2019
6 Reads

[Common forms of hereditary spastic paraplegias].

Zh Nevrol Psikhiatr Im S S Korsakova 2019;119(2):94-104

Research Centre for Medical Genetics, Moscow, Russia.

A group of hereditary spastic paraplegias includes about 80 spastic paraplegia genes (SPG): forms with identified (almost 70) or only mapped (about 10) genes. Methods of next generation sequencing (NGS), along with new SPG discovering, modify knowledge about earlier delineated SPG. Clinical and genetic characteristics of common autosomal dominant (SPG4, SPG3, SPG31) and autosomal recessive (SPG11, SPG7, SPG15) forms are presented. Read More

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http://dx.doi.org/10.17116/jnevro201911902194DOI Listing
January 2019

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.

J Inherit Metab Dis 2019 Mar 10. Epub 2019 Mar 10.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Autophagy is a fundamental and conserved catabolic pathway that mediates the degradation of macromolecules and organelles in lysosomes. Autophagy is particularly important to postmitotic and metabolically active cells such as neurons. The complex architecture of neurons and their long axons pose additional challenges for efficient recycling of cargo. Read More

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http://dx.doi.org/10.1002/jimd.12084DOI Listing
March 2019
1 Read

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.

Front Neurol 2019 22;10:131. Epub 2019 Feb 22.

Medical Genetics Unit, S. Orsola-Malpighi Hospital, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.

Hereditary Spastic Paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by a progressive rigidity and weakness of the lower limbs, caused by pyramidal tract lesions. As of today, 80 different forms of HSP have been mapped, 64 genes have been cloned, and new forms are constantly being described. HSPs represent an intensively studied field, and the functional understanding of the biochemical and molecular pathogenetic pathways are starting to be elucidated. Read More

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http://dx.doi.org/10.3389/fneur.2019.00131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395431PMC
February 2019
1 Read

Urological dysfunction in patients with hereditary spastic paraplegia.

Neurourol Urodyn 2019 Apr 8;38(4):1081-1085. Epub 2019 Mar 8.

Inserm U1179, UFR des sciences de la santé, University of Versailles Saint-Quentin, Montigny-le-Bretonneux, France.

Aims: Purposes of this study were to describe lower urinary tract symptoms (LUTS) and related urodynamic patterns in patients with hereditary spastic paraplegia (HSP), and to characterize LUTS management and associated uronephrological complications.

Methods: We retrospectively reviewed medical files of HSP patients, consecutively followed in our Physical and Rehabilitation Medicine Department between 1999 and 2016. Clinical, urodynamic, and radiological data were collected and analyzed. Read More

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http://dx.doi.org/10.1002/nau.23957DOI Listing
April 2019
1 Read

Locomotor coordination in patients with Hereditary Spastic Paraplegia.

J Electromyogr Kinesiol 2019 Apr 19;45:61-69. Epub 2019 Feb 19.

Centre of Space Bio-medicine, University of Rome Tor Vergata, 00133 Rome, Italy; Laboratory of Neuromotor Physiology, IRCCS Santa Lucia Foundation, 00179 Rome, Italy; Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.

Locomotion is a complex behaviour that requires the coordination of multiple body segments and muscle groups. Here we investigated how the weakness and spasticity in individuals with Hereditary Spastic Paraplegia (HSP) affect the coordination patterns of the lower limbs. We analysed kinematics and electromyographic (EMG) activity from 12 leg muscles in 21 persons with HSP and 20 control subjects at matched walking speeds. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10506411183038
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http://dx.doi.org/10.1016/j.jelekin.2019.02.006DOI Listing
April 2019
8 Reads

Hereditary primary lateral sclerosis and progressive nonfluent aphasia.

J Neurol 2019 May 5;266(5):1079-1090. Epub 2019 Mar 5.

Department of Neurology, Hospital Universitario Marqués de Valdecilla (IDIVAL), University of Cantabria, CIBERNED, Santander, Spain.

Objective: To report a kindred with an association between hereditary primary lateral sclerosis (PLS) and progressive nonfluent aphasia.

Patients And Methods: Six members from a kindred with 15 affected individuals spanning three generations, suffered from spasticity without muscle atrophy or fasciculation, starting in the lower limbs and spreading to the upper limbs and bulbar musculature, followed by effortful speech, nonfluent language and dementia, in 5 deceased members. Disease onset was during the sixth decade of life, or later. Read More

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http://link.springer.com/10.1007/s00415-019-09235-x
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http://dx.doi.org/10.1007/s00415-019-09235-xDOI Listing
May 2019
9 Reads

Update on the Genetics of Spastic Paraplegias.

Curr Neurol Neurosci Rep 2019 Feb 28;19(4):18. Epub 2019 Feb 28.

Institut du Cerveau et de la Moelle épinière, Sorbonne Université UMR_S1127, INSERM Unit 1127, CNRS UMR7225, 75013, Paris, France.

Purpose Of Review: Hereditary spastic paraplegias are a genetically heterogeneous group of neurological disorders. Patients present lower limb weakness and spasticity, complicated in complex forms by additional neurological signs. We review here the major steps toward understanding the molecular basis of these diseases made over the last 10 years. Read More

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http://link.springer.com/10.1007/s11910-019-0930-2
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http://dx.doi.org/10.1007/s11910-019-0930-2DOI Listing
February 2019
5 Reads

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.

Eur J Paediatr Neurol 2019 Feb 14. Epub 2019 Feb 14.

First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. Electronic address:

Objective: Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the clinical manifestations and molecular findings of CP mimic patients, with the ultimate goal to offer specific disease-modifying therapy and genetic counseling. Read More

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http://dx.doi.org/10.1016/j.ejpn.2019.02.001DOI Listing
February 2019
1 Read

Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.

Clin Genet 2019 May 19;95(5):637-639. Epub 2019 Feb 19.

Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Pedigree chart of hereditary spastic paraplegia (HSP) patients and chromatogram of novel mutations. A. Pedigree chart of 12 Chinese HSP families with mutation. Read More

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http://dx.doi.org/10.1111/cge.13517DOI Listing
May 2019
1 Read

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.

Neurogenetics 2019 Mar 19;20(1):27-38. Epub 2019 Feb 19.

Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9 Street, 02-957, Warsaw, Poland.

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders. Numerous genes linked to HSPs, overlapping phenotypes between HSP subtypes and other neurodegenerative disorders and the HSPs' dual mode of inheritance (both dominant and recessive) make the genetic diagnosis of HSPs complex and difficult. Out of the original HSP cohort comprising 306 index cases (familial and isolated) who had been tested according to "traditional workflow/guidelines" by Multiplex Ligation-dependent Probe Amplification (MLPA) and Sanger sequencing, 30 unrelated patients (all familial cases) with unsolved genetic diagnoses were tested using next-generation sequencing (NGS). Read More

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http://dx.doi.org/10.1007/s10048-019-00565-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411833PMC
March 2019
2 Reads

is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons.

Clin Sci (Lond) 2019 Feb 22;133(4):583-595. Epub 2019 Feb 22.

Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan

Recent reports, including ours, have indicated that microRNA (miR)-33 located within the intron of sterol regulatory element binding protein (SREBP) 2 controls cholesterol homeostasis and can be a potential therapeutic target for the treatment of atherosclerosis. Here, we show that , which encodes a microtubule-severing protein called SPASTIN, was a novel target gene of in human. Actually, the miR-33 binding site in the 3'-UTR is conserved not in mice but in mid to large mammals, and it is impossible to clarify the role of on in mice. Read More

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http://dx.doi.org/10.1042/CS20180980DOI Listing
February 2019
4 Reads

Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population.

Arq Neuropsiquiatr 2019 Jan;77(1):10-18

Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo SP, Brasil.

Aims: To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample.

Methods: Epidemiological, clinical, radiological and laboratory data were analyzed in 35 patients.

Results: Simple HSP (HSP-S) was detected in 12 patients, and complicated HSP (HSP-C) was detected in 23 patients. Read More

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http://dx.doi.org/10.1590/0004-282X20180153DOI Listing
January 2019
1 Read

High diagnostic yield and novel variants in very late-onset spasticity.

J Neurogenet 2019 Feb 12:1-6. Epub 2019 Feb 12.

b Hotchkiss Brain Institute, University of Calgary , Calgary , Canada.

Hereditary spastic paraplegias (HSPs) are a diverse group of genetic conditions with variable severity and onset age. From a neurogenetic clinic, we identified 14 patients with very late-onset HSP, with symptoms starting after the age of 35. In this cohort, sequencing of known genetic causes was performed using clinically available HSP sequencing panels. Read More

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http://dx.doi.org/10.1080/01677063.2019.1566326DOI Listing
February 2019
3 Reads

Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):221-222. Epub 2018 Mar 2.

Department of Neurology Columbia University Medical Center New York NY.

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http://dx.doi.org/10.1002/mdc3.12580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336413PMC
March 2018
2 Reads

Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks.

Neurol Sci 2019 Feb 8. Epub 2019 Feb 8.

Institute of Applied Sciences and Intelligent Systems, CNR, Pozzuoli, Italy.

Aim: Our aim was to describe the rearrangements of the brain activity related to genetic mutations in the SPAST gene.

Methods: Ten SPG4 patients and ten controls underwent a 5 min resting state magnetoencephalography recording and neurological examination. A beamformer algorithm reconstructed the activity of 90 brain areas. Read More

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http://dx.doi.org/10.1007/s10072-019-3725-yDOI Listing
February 2019
2 Reads

A network biology approach to unraveling inherited axonopathies.

Sci Rep 2019 Feb 8;9(1):1692. Epub 2019 Feb 8.

Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

Inherited axonopathies represent a spectrum of disorders unified by the common pathological mechanism of length-dependent axonal degeneration. Progressive axonal degeneration can lead to both Charcot-Marie-Tooth type 2 (CMT2) and Hereditary Spastic Paraplegia (HSP) depending on the affected neurons: peripheral motor and sensory nerves or central nervous system axons of the corticospinal tract and dorsal columns, respectively. Inherited axonopathies display an extreme degree of genetic heterogeneity of Mendelian high-penetrance genes. Read More

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http://dx.doi.org/10.1038/s41598-018-37119-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368620PMC
February 2019
6 Reads

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature.

Front Neurol 2019 22;10. Epub 2019 Jan 22.

Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.

The term hereditary spastic paraplegia (HSP) embraces a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. There currently exist no specific therapies for HSP, and treatment is exclusively symptomatic, aimed at reducing muscle spasticity, and improving strength and gait. The authors set out to perform a comprehensive systematic review of the available scientific literature on the treatment of HSP, applying Cochrane Collaboration methods. Read More

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http://dx.doi.org/10.3389/fneur.2019.00003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349696PMC
January 2019
3 Reads

Atlastin-1 regulates morphology and function of endoplasmic reticulum in dendrites.

Nat Commun 2019 02 4;10(1):568. Epub 2019 Feb 4.

National Laboratory of Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, 15 Datun Road, Chaoyang District, Beijing, 100101, China.

Endoplasmic reticulum (ER) is characterized by interconnected tubules and sheets. Neuronal ER adopts specific morphology in axons, dendrites and soma. Here we study mechanisms underlying ER morphogenesis in a C. Read More

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http://dx.doi.org/10.1038/s41467-019-08478-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362286PMC
February 2019
4 Reads

Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.

Front Neurol 2018 16;9:1117. Epub 2019 Jan 16.

Department of Neurology and Neuroimaging Laboratory, University of Campinas (UNICAMP), Campinas, Brazil.

Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts and dorsal columns. Genotypic and phenotypic heterogeneity is a hallmark of this group of diseases, which makes proper diagnosis and management often challenging. In this scenario, magnetic resonance imaging (MRI) emerges as a valuable tool to assist in the exclusion of mimicking disorders and in the detailed phenotypic characterization. Read More

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http://dx.doi.org/10.3389/fneur.2018.01117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346681PMC
January 2019
4 Reads

A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways.

Cell Mol Life Sci 2019 Apr 21;76(7):1433-1445. Epub 2019 Jan 21.

Leibniz Institut für Alternsforschung-Fritz Lipmann Institut, Beutenbergstr. 11, 07745, Jena, Germany.

Atlastins (ATLs) are membrane-bound GTPases involved in shaping of the endoplasmic reticulum (ER). Mutations in ATL1 and ATL3 cause spastic paraplegia and hereditary sensory neuropathy. We here show that the sensory neuropathy causing ATL3 Y192C mutation reduces the complexity of the tubular ER-network. Read More

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http://link.springer.com/10.1007/s00018-019-03010-x
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http://dx.doi.org/10.1007/s00018-019-03010-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420906PMC
April 2019
9 Reads

Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.

J Biol Chem 2019 Mar 20;294(11):3853-3871. Epub 2019 Jan 20.

From the Institute of Innate Immunity, University Hospital, University of Bonn, 53127 Bonn, Germany,

The nonlysosomal glucosylceramidase β2 (GBA2) catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the human gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and the Marinesco-Sjögren-like syndrome. However, the underlying molecular mechanisms are ill-defined. Read More

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http://www.jbc.org/lookup/doi/10.1074/jbc.RA118.006311
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http://dx.doi.org/10.1074/jbc.RA118.006311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422076PMC
March 2019
7 Reads

A new case of spastic paraplegia type 64 due to a missense mutation in the gene.

Hum Genome Var 2019 11;6. Epub 2019 Jan 11.

1Department of Neurology, Dr.-Georges-L.-Dumont University Hospital Center, 330, University Avenue Moncton, Moncton, NB E1C 2Z3 Canada.

Spastic paraplegia type 64 (SPG64; OMIM 615683) is a complicated form of hereditary spastic paraplegia (HSP) recently identified in individuals diagnosed with suspected neurodegenerative disease. Affected patients carry homozygous mutations in the ectonucleoside triphosphate diphosphohydrolase 1 gene (). Although they share common characteristics, affected individuals show slight discrepancies in some clinical aspects. Read More

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http://www.nature.com/articles/s41439-018-0036-4
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http://dx.doi.org/10.1038/s41439-018-0036-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329766PMC
January 2019
22 Reads

[Genetics of movement disorders-rare but important].

Nervenarzt 2019 Feb;90(2):197-210

Klinik für Neurologie, Universitätsmedizin Essen, Hufelandstr. 55, 45147, Essen, Deutschland.

Rare genetic movement disorders are a heterogeneous group of diseases. The causes of many of these rare movement disorders could be resolved due to the progress in molecular genetic diagnostics. This led to a better pathophysiological characterization of rare movement disorders and also to the fact that many phenotypical overlaps could be found between different diseases. Read More

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http://dx.doi.org/10.1007/s00115-018-0659-1DOI Listing
February 2019
6 Reads

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.

Case Rep Genet 2018 12;2018:9468049. Epub 2018 Dec 12.

Department of Neurology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders involving various sensory and autonomic dysfunctions. The most common symptoms of HSANs include loss of sensations of pain and temperature that frequently lead to chronic ulcerations in the feet and hands of the patient. In this case study, we present the clinical features and genetic characteristics of two affected individuals from two unrelated Saudi families presenting mutilating sensory loss and spastic paraplegia. Read More

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http://dx.doi.org/10.1155/2018/9468049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311306PMC
December 2018
8 Reads

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.

J Neurol 2019 Mar 12;266(3):735-744. Epub 2019 Jan 12.

Department of Neurology, Rigshospitalet, Neuromuscular Research Center, University of Copenhagen, Copenhagen, Denmark.

SPG31 is a hereditary spastic paraplegia (HSP) caused by pathogenic variants in the REEP1 gene. The phenotype (SPG31) has occasionally been described with peripheral nervous system involvement, in additional to the gradually progressing lower limb spasticity that characterizes HSP. The objective of this study was to characterize patients with pathogenic REEP1 variants and neurophysiologically assess the extent of peripheral nerve involvement in this patient group. Read More

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http://link.springer.com/10.1007/s00415-019-09196-1
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http://dx.doi.org/10.1007/s00415-019-09196-1DOI Listing
March 2019
13 Reads

Rescue axonal defects by targeting mitochondrial dynamics in hereditary spastic paraplegias.

Neural Regen Res 2019 Apr;14(4):574-577

Department of Biomedical Sciences, University of Illinois College of Medicine Rockford, Rockford; Department of Bioengineering, University of Illinois at Chicago, Chicago, IL, USA.

Impaired axonal development and degeneration underlie debilitating neurodegenerative diseases including hereditary spastic paraplegia, a large group of inherited diseases. Hereditary spastic paraplegia is caused by retrograde degeneration of the long corticospinal tract axons, leading to progressive spasticity and weakness of leg and hip muscles. There are over 70 subtypes with various underlying pathophysiological processes, such as defective vesicular trafficking, lipid metabolism, organelle shaping, axonal transport, and mitochondrial dysfunction. Read More

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http://www.nrronline.org/text.asp?2019/14/4/574/248108
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http://dx.doi.org/10.4103/1673-5374.248108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352593PMC
April 2019
12 Reads

Clinical Trial Designs and Measures in Hereditary Spastic Paraplegias.

Front Neurol 2018 21;9:1017. Epub 2018 Dec 21.

Neurogenetics Branch, Clinical Research Program, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.

Hereditary spastic paraplegias (HSPs) are a large group of genetically-diverse neurologic disorders characterized clinically by a common feature of lower extremity spasticity and gait difficulties. Current therapies are predominantly symptomatic, and even then usually provide inadequate relief of symptoms. Going forward, HSP therapeutics development requires a systematic analysis of quantifiable measures and tools to assess treatment response. Read More

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https://www.frontiersin.org/article/10.3389/fneur.2018.01017
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http://dx.doi.org/10.3389/fneur.2018.01017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309810PMC
December 2018
17 Reads

SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.

Eur J Paediatr Neurol 2019 Mar 18;23(2):329-332. Epub 2018 Dec 18.

Unit of Neuromuscolar and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Research Hospital, Rome, Italy.

SLC2A1 mutations cause glucose transporter type 1 deficiency syndrome, whose phenotypic spectrum is a continuum, ranging from classic to variant phenotypes, the latter accounting for about 10% of cases. Very few SLC2A1-mutated patients with a spastic paraplegia phenotype have been reported so far, and they are associated with paroxysmal choreo-athetosis (i.e. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183042
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http://dx.doi.org/10.1016/j.ejpn.2018.12.004DOI Listing
March 2019
10 Reads

Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).

Stem Cell Res 2019 Jan 27;34:101354. Epub 2018 Nov 27.

Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China. Electronic address:

The human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts from a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p. Read More

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http://dx.doi.org/10.1016/j.scr.2018.11.015DOI Listing
January 2019
3 Reads

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

AJNR Am J Neuroradiol 2019 Jan 3;40(1):199-203. Epub 2019 Jan 3.

From the Departments of Neurology (B.P., M.R.D., J.C.M.).

Background And Purpose: The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the gene, causing Spastic Paraplegia type 11 (SPG11). This sign corresponds to long T1 and T2 values in the forceps minor of the corpus callosum, which appears hyperintense on FLAIR and hypointense on T1-weighted images. Our purpose was to determine the sensitivity and specificity of the ears of the lynx MR imaging sign for genetic cases compared with common potential mimics. Read More

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http://www.ajnr.org/lookup/doi/10.3174/ajnr.A5935
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http://dx.doi.org/10.3174/ajnr.A5935DOI Listing
January 2019
4 Reads

Hereditary spastic paraplegia presenting as limb dystonia with a rare mutation.

Neurol Clin Pract 2018 Dec;8(6):e49-e50

Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT.

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http://dx.doi.org/10.1212/CPJ.0000000000000552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294529PMC
December 2018
11 Reads

A Novel Mutation in the Stalk Domain of Causes a Slowly Progressive Atypical Motor Syndrome.

J Clin Med 2018 Dec 22;8(1). Epub 2018 Dec 22.

Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, 25100 Brescia, Italy.

encodes the heavy chain A of kinesin; A motor protein involved in motility functions within neuron. Mutations in the N-terminal motor domain are known to cause SPG10; An autosomal dominant hereditary spastic paraplegia (HSP), as well as rare Charcot-Marie-Tooth disease 2 (CMT2) cases. Recently C-terminal cargo-binding tail domain mutations have been associated with an amyotrophic lateral sclerosis (ALS) phenotype. Read More

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http://www.mdpi.com/2077-0383/8/1/17
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http://dx.doi.org/10.3390/jcm8010017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352268PMC
December 2018
7 Reads

The novel mutation of gene as the cause for Spastic paraplegia 30 in a Japanese case.

eNeurologicalSci 2019 Mar 22;14:34-37. Epub 2018 Nov 22.

Departmentof Neurology, Faculty of Medicine, Kindai University, Japan.

Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of reportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2), whereas heterozygous mutations can cause nonsyndromic and syndromic intellectual disability (MRD9). Here we report the case of a 37-year-old female who presented with gait disturbance complicated with moyamoya disease. Read More

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http://dx.doi.org/10.1016/j.ensci.2018.11.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297067PMC
March 2019
6 Reads

and Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis.

Front Neurol 2018 7;9:1078. Epub 2018 Dec 7.

Laboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Lecco, Italy.

This paper describes the clinical evolution and the novel genetic findings in a mutated family previously reported as affected by spastic paraparesis only. The additional evidence we report here, a homozygous mutation detected in the proband, and the clinical evolution observed in the affected members of the family, are in line with the evidence of an overlap between Hereditary Spastic Paraplegias and Amyotrophic Lateral Sclerosis associated with variants in these genes. The proband, a 14-years-old boy, started manifesting a pure form of HSP at age 14 months. Read More

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http://dx.doi.org/10.3389/fneur.2018.01078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293196PMC
December 2018
2 Reads

Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons.

Front Neurosci 2018 6;12:914. Epub 2018 Dec 6.

Department of Stem Cell Biology, Friedrich-Alexander University Erlangen-Nürnberg, Erlangen, Germany.

Mutations in SPG11 cause a complicated autosomal recessive form of hereditary spastic paraplegia (HSP). Mechanistically, there are indications for the dysregulation of the GSK3β/βCat signaling pathway in SPG11. In this study, we tested the therapeutic potential of the GSK3β inhibitor, tideglusib, to rescue neurodegeneration associated characteristics in an induced pluripotent stem cells (iPSCs) derived neuronal model from SPG11 patients and matched healthy controls as well as a CRISPR-Cas9 mediated SPG11 knock-out line and respective control. Read More

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http://dx.doi.org/10.3389/fnins.2018.00914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291617PMC
December 2018
2 Reads

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Eur J Med Genet 2018 Dec 17. Epub 2018 Dec 17.

Department of Medicine (Neurology), University of Alberta, Edmonton, Canada; Departments of Medical Genetics and Pediatrics, University of Alberta, Edmonton, Canada.

Aims And Objective: To characterize the phenotype of CAPN1 (SPG76) mutations in patients diagnosed with hereditary spastic paraplegia (HSP).

Background: The CAPN1 gene, located on chromosome 11q13.1, is a protein-coding gene involved in neuronal plasticity, migration, microtubular regulation and cerebellar development. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183041
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http://dx.doi.org/10.1016/j.ejmg.2018.12.010DOI Listing
December 2018
3 Reads

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

Front Neurol 2018 4;9:981. Epub 2018 Dec 4.

Molecular Medicine, Pisa, Italy.

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential disease-associated genes-and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. Read More

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https://www.frontiersin.org/article/10.3389/fneur.2018.00981
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http://dx.doi.org/10.3389/fneur.2018.00981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289125PMC
December 2018
21 Reads

Novel c.C2254T (p.Q752*) mutation in (SPG15) gene in a patient with hereditary spastic paraparesis.

J Genet 2018 Dec;97(5):1469-1472

Oasi Research Institute-IRCCS, Troina 94018, Italy.

Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive gene are considered as very rare causes. We describe a novel mutation in gene found in a patient with autosomal recessive spastic paraplegias. The use of a 'target-gene' approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias. Read More

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December 2018
14 Reads