1,808 results match your criteria Hereditary Spastic Paraplegia


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

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
1 Read

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

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

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
February 2019
1 Read

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
2 Reads

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

Nat Commun 2019 Feb 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

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

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

Cell Mol Life Sci 2019 Jan 21. 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
January 2019
3 Reads

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

J Biol Chem 2019 Jan 20. Epub 2019 Jan 20.

Biophysical Imaging, Institute of Innate Immunity, University of Bonn, Germany.

The non-lysosomal glucosylceramidase (GBA2) catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the human GBA2 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
January 2019
4 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
11 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
2 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
1 Read

Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants.

J Neurol 2019 Jan 12. 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
January 2019
5 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
5 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
10 Reads

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

Eur J Paediatr Neurol 2018 Dec 18. 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
December 2018
4 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
2 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
6 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
4 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
4 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
1 Read

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
1 Read

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
1 Read

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
13 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
8 Reads

BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.

Muscle Nerve 2018 Dec 7. Epub 2018 Dec 7.

Department of Human Genetics, Ruhr University, Universitätsstrasse 150, 44801, Bochum, Germany.

Introduction: Mutations in the BICD2 gene are causative for an autosomal dominant form of spinal muscular atrophy (SMALED2). Further, BICD2 mutations have been implicated in hereditary spastic paraplegia (HSP), but only very few such patients have been described. In this report we aimed to investigate the frequency of BICD2 mutations in patients with HSP and hereditary motor and sensory neuropathy (HMSN) who were negative for the most common known genetic causes. Read More

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http://dx.doi.org/10.1002/mus.26394DOI Listing
December 2018

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance.

Front Neurol 2018 26;9:958. Epub 2018 Nov 26.

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, United States.

Hereditary Spastic Paraplegia is an extraordinarily heterogeneous disease caused by over 50 Mendelian genes. Recent applications of next-generation sequencing, large scale data analysis, and data sharing/matchmaking, have discovered a quickly expanding set of additional HSP genes. Since most recently discovered HSP genes are rare causes of the disease, there is a growing concern of a persisting diagnostic gap, estimated at 30-40%, and even higher for sporadic cases. Read More

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http://dx.doi.org/10.3389/fneur.2018.00958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275194PMC
November 2018

Novel genotype-phenotype and MRI correlations in a large cohort of patients with mutations.

Neurol Genet 2018 Dec 24;4(6):e279. Epub 2018 Oct 24.

Academic Directorate of Neurosciences (C.A.A.H., R.O'.M., M.K.R., S.P., Z.P., S.B., C.J.M., P.J.S., M.H.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Sheffield Institute for Translational Neuroscience (SITraN) (C.A.A.H., R.S., T.R., C.J.M., P.J.S., M.H.), University of Sheffield; Sheffield Diagnostic Genetics Service (N.J.B., J.M.), Sheffield Children's NHS Foundation Trust; Department of Clinical Neurophysiology (G.R., P.S.), Sheffield Teaching Hospitals NHS Foundation Trust, Royal Hallamshire Hospital; Academic Unit of Radiology (N.H.), University of Sheffield, Royal Hallamshire Hospital; and Sheffield NIHR Biomedical Research Centre for Translational Neuroscience (C.A.A.H., N.H., R.S., P.S., S.B., C.J.M., P.J.S., M.H.), United Kingdom.

Objective: To clinically, genetically, and radiologically characterize a large cohort of patients.

Methods: We used data from next-generation sequencing panels for ataxias and hereditary spastic paraplegia to identify a characteristic phenotype that helped direct genetic testing for variations in . We analyzed MRI. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244025PMC
December 2018
11 Reads

Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features.

Ann Indian Acad Neurol 2018 Oct-Dec;21(4):335-339

Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey.

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http://dx.doi.org/10.4103/aian.AIAN_106_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238570PMC
December 2018

Loss of Enzyme Activity in Mutated B4GALNT1 Gene Products in Patients with Hereditary Spastic Paraplegia Results in Relatively Mild Neurological Disorders: Similarity with Phenotypes of B4galnt1 Knockout Mice.

Neuroscience 2019 01 4;397:94-106. Epub 2018 Dec 4.

Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Kasugai 487-8501, Japan; Department of Biochemistry II, Nagoya University Graduate School of Medicine, Nagoya 466-0065, Japan. Electronic address:

B4GALNT1 is an enzyme essential for the synthesis of complex gangliosides, whose absence leads to progressive neurodegeneration with aging in mice. Recently, eleven cases of hereditary spastic paraplegia with mutation in the coding region of B4GALNT1 were reported. However, changes in the enzymatic activity of their products have never been studied. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03064522183077
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http://dx.doi.org/10.1016/j.neuroscience.2018.11.034DOI Listing
January 2019
12 Reads

Hereditary Spastic Paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.

Hum Mol Genet 2018 Dec 6. Epub 2018 Dec 6.

Department of Neurobiology and Anatomy.

Mutations of the SPAST gene, which encodes the microtubule-severing protein spastin, are the most common cause of Hereditary Spastic Paraplegia. Haploinsufficiency is the prevalent opinion as to the mechanism of the disease, but gain-of-function toxicity of the mutant proteins is another possibility. Here, we report a new transgenic mouse (termed SPASTC448Y mouse) that is not haploinsufficient but expresses human spastin bearing the HSP pathogenic C448Y mutation. Read More

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http://dx.doi.org/10.1093/hmg/ddy419DOI Listing
December 2018
11 Reads

Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study.

J Spinal Cord Med 2018 Dec 3:1-8. Epub 2018 Dec 3.

d Neurology Unit , Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico , Milan , Italy.

Objective: Hereditary spastic paraplegia (HSP) represents a heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and lower limb weakness. We assessed the effects of transcutaneous spinal direct current stimulation (tsDCS) in HSP.

Design: A double-blind, randomized, crossover and sham-controlled study. Read More

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http://dx.doi.org/10.1080/10790268.2018.1543926DOI Listing
December 2018
2 Reads

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

BMC Neurol 2018 Nov 29;18(1):196. Epub 2018 Nov 29.

Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, No.1277, Jiefang avenue, Wuhan, 430022, Hubei, China.

Background: Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clinically and genetically heterogeneous neurodegenerative diseases with progressive spasticity and weakness in the lower limbs. Mutations in the Spastic Paraplegia gene 7 (SPG7) account for about 5-21% of ARHSP cases. However, in Asians, few reports about the mutations exist. Read More

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http://dx.doi.org/10.1186/s12883-018-1199-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263041PMC
November 2018
3 Reads
2.040 Impact Factor

Autonomic dysfunction in hereditary spastic paraplegia type 4.

Eur J Neurol 2018 Nov 29. Epub 2018 Nov 29.

Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.

Background And Purpose: SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4-HSP), which is characterized by progressive lower limb weakness, spasticity and hyperreflexia. There are few studies about non-motor manifestations in this disease and none about autonomic involvement. Therefore, the aim was to determine the frequency and pattern of autonomic complaints in patients with SPG4-HSP, as well as to determine the clinical relevance and the possible factors associated with these manifestations. Read More

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http://dx.doi.org/10.1111/ene.13878DOI Listing
November 2018
14 Reads

Human SPG11 cerebral organoids reveal cortical neurogenesis impairment.

Hum Mol Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Stem Cell Biology (former IZKF junior research group III).

SPG11 linked hereditary spastic paraplegia is a complex monogenic neurodegenerative disease that in addition to spastic paraplegia is characterized by childhood onset cognitive impairment, thin corpus callosum and enlarged ventricles. We have previously shown impaired proliferation of SPG11 neural progenitor cells (NPCs). For delineation of potential defect in SPG11 brain development we employ 2D culture systems and 3D human brain organoids derived from SPG11 patients' iPSC and controls. Read More

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http://dx.doi.org/10.1093/hmg/ddy397DOI Listing
November 2018

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Brain 2018 Dec;141(12):3331-3342

Institut du Cerveau et de la Moelle épinière (ICM), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by progressive distal degeneration of the corticospinal tracts. Among the 79 loci and 65 spastic paraplegia genes (SPGs) involved in HSPs, mutations in SPAST, which encodes spastin, responsible for SPG4, are the most frequent cause of both familial and sporadic HSP. SPG4 is characterized by a clinically pure phenotype associated with restricted involvement of the corticospinal tracts and posterior columns of the spinal cord. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy285DOI Listing
December 2018
19 Reads

Urinary symptoms, quality of life, and patient satisfaction in genetic and sporadic hereditary spastic paraplegia.

J Neurol 2019 Jan 22;266(1):207-211. Epub 2018 Nov 22.

Department of Neurology, Christian-Albrechts-University Kiel, Kiel, Germany.

Background: Urinary involvement is common in hereditary spastic paraplegias (HSPs), but has rarely been assessed systematically.

Methods: We characterized urinary complaints in 71 German HSP patients (mean age 55.4 ± 13. Read More

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http://dx.doi.org/10.1007/s00415-018-9129-8DOI Listing
January 2019
9 Reads

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.

J Hum Genet 2019 Feb 22;64(2):171-176. Epub 2018 Nov 22.

Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan.

The tropomyosin-receptor kinase fused gene (TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form of complicated hereditary spastic paraplegia called SPG57. Previously, three homozygous variants of the TFG gene were reported in five families with SPG57, in which early onset spastic paraplegia, optic atrophy, and peripheral neuropathy were variably identified. Here, we present the first Japanese patient with SPG57, and have added a homozygous p. Read More

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http://dx.doi.org/10.1038/s10038-018-0538-4DOI Listing
February 2019
1 Read

Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.

J Clin Neurosci 2019 Jan 13;59:337-339. Epub 2018 Nov 13.

DNA Laboratory, Department of Paediatric Neurology, Charles University Second School of Medicine and University Hospital Motol, Prague, Czech Republic; Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, Czech Republic.

Biallelic pathogenic variants in FA2H gene have been repeatedly described as a cause of hereditary spastic paraplegia (HSP) type35 (SPG35). Targeted massive parallel sequencing (MPS) of the HSP genes panel revealed a novel homozygous variant c.130C > T (p. Read More

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http://dx.doi.org/10.1016/j.jocn.2018.10.094DOI Listing
January 2019
3 Reads

Mobile Gait Analysis using Personalised Hidden Markov Models for Hereditary Spastic Paraplegia Patients.

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:5430-5433

Gait analysis provides a quantitative method to assess disease progression or intervention effect on gait disorders. While mobile gait analysis enables continuous monitoring in free living conditions, state of the art gait analysis for diseases such as hereditary spastic paraplegia (HSP) is currently limited to motion capture systems which are large and expensive. The challenge with HSP is its heterogeneous nature and rarity, leading to a wide range of ages, severity and gait patterns as well as small patient numbers. Read More

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https://ieeexplore.ieee.org/document/8513508/
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http://dx.doi.org/10.1109/EMBC.2018.8513508DOI Listing
July 2018
10 Reads

Cerebrospinal Fluid Neurofilaments May Discriminate Upper Motor Neuron Syndromes: A Pilot Study.

Neurodegener Dis 2018 Nov 14;18(5-6):255-261. Epub 2018 Nov 14.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena,

Background: Patients presenting with upper motor neuron (UMN) signs may widely diverge in prognosis, ranging from amyotrophic lateral sclerosis (ALS) to primary lateral sclerosis (PLS) and hereditary spastic paraplegia (hSP). Neurofilaments are emerging as potential diagnostic and prognostic biomarkers for ALS, but the diagnosis of UMN syndromes still relies mostly on clinical long-term observation and on familiarity or genetic confirmation.

Objectives: To test whether phosphorylated neurofilament heavy chain (pNfH) may discriminate different UMN syndromes at diagnosis and to test their prognostic role among these diseases. Read More

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https://www.karger.com/Article/FullText/493986
Publisher Site
http://dx.doi.org/10.1159/000493986DOI Listing
November 2018
6 Reads

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.

Acta Neurol Belg 2018 Dec 9;118(4):643-646. Epub 2018 Nov 9.

Institute of Neurological Sciences, National Research Council, 87050, Mangone (Cosenza), Italy.

Kinesins are a family of proteins for anterograde transport of the molecules from the neuronal cell body and their impairment has been widely associated with neurodegeneration of the motor neurons. KIF5A gene causes autosomal dominant spastic paraplegia 10, a neurological disorder characterized by spasticity and weakness of the lower limbs (SPG10). We carried out a screening of KIF5A gene in 50 subjects affected by HSP negative to diagnostic test for SPG4, ATL1 and REEP1. Read More

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http://dx.doi.org/10.1007/s13760-018-1039-0DOI Listing
December 2018
2 Reads

Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

J Hum Genet 2019 Jan;64(1):61-63

Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.

The originally published version of this article contained an error in Fig. 1 and Table 2. The correct figure and table of this article should have read as below. Read More

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http://www.nature.com/articles/s10038-018-0533-9
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http://dx.doi.org/10.1038/s10038-018-0533-9DOI Listing
January 2019
8 Reads

Global, regional, and national burden of motor neuron diseases 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.

Authors:

Lancet Neurol 2018 Dec 5;17(12):1083-1097. Epub 2018 Nov 5.

Background: Understanding how prevalence, incidence, and mortality of motor neuron diseases change over time and by location is crucial for understanding the causes of these disorders and for health-care planning. Our aim was to produce estimates of incidence, prevalence, and disability-adjusted life-years (DALYs) for motor neuron diseases for 195 countries and territories from 1990 to 2016 as part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016.

Methods: The motor neuron diseases included in this study were amyotrophic lateral sclerosis, spinal muscular atrophy, hereditary spastic paraplegia, primary lateral sclerosis, progressive muscular atrophy, and pseudobulbar palsy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S14744422183040
Publisher Site
http://dx.doi.org/10.1016/S1474-4422(18)30404-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234315PMC
December 2018
6 Reads

Lower Urinary Tract Function in Familial Spastic Paraplegia.

Eur Neurol 2018 2;80(3-4):121-125. Epub 2018 Nov 2.

Continence Center, Dokkyo Medical College, Tochigi, Japan.

In order to investigate lower urinary tract function in hereditary spastic paraplegia (HSP), we recruited 12 HSP patients: 8 men, 4 women; mean age, 64.6 years; mean disease duration, 18.9 years; walk without cane, 2, walk with cane, 6, wheelchair bound, 3. Read More

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https://www.karger.com/Article/FullText/494030
Publisher Site
http://dx.doi.org/10.1159/000494030DOI Listing
November 2018
11 Reads

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Mol Genet Genomic Med 2018 11 31;6(6):1134-1139. Epub 2018 Oct 31.

Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

Background: Hereditary spastic paraplegia (HSP) is a group of rare disorders characterized by spastic paraparesis and other symptoms. Often, other diseases can mimic HSP, which may delay diagnosis and treatment.

Methods: Whole exome sequencing was performed in families with clinically suspected HSP without a genetic diagnosis. Read More

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http://doi.wiley.com/10.1002/mgg3.492
Publisher Site
http://dx.doi.org/10.1002/mgg3.492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305671PMC
November 2018
6 Reads