2,022 results match your criteria Hereditary Spastic Paraplegia


Early-onset hereditary spastic paraplegia: the possibility of a genetic diagnosis.

Authors:
Craig Blackstone

Dev Med Child Neurol 2020 May 18. Epub 2020 May 18.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/dmcn.14564DOI Listing

Brain or spinal cord MRI in the investigation of hereditary spastic paraplegia? Brain first!

Neurol India 2020 Mar-Apr;68(2):524

Department of Neurology, School of Medicine, University of São Paulo; Human Genome and Stem Cell Study Center, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.4103/0028-3886.284384DOI Listing

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.

Am J Case Rep 2020 May 11;21:e919463. Epub 2020 May 11.

School of Medicine and Health Sciences, Tecnologico de Monterrey, Monterrey, Mexico.

BACKGROUND Hereditary spastic paraplegia (HSP or SPG) consists of a heterogeneous group of disorders, clinically divided into pure and complex forms. The former is characterized by neurological impairment limited to lower-extremity spasticity. The latter presents additional symptoms such as seizures, psychomotor impairment, cataract, deafness, and peripheral neuropathy. Read More

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http://dx.doi.org/10.12659/AJCR.919463DOI Listing

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

Mol Genet Genomic Med 2020 May 8:e1240. Epub 2020 May 8.

School of Biology, College of Science, University of Tehran, Tehran, Iran.

Background: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis may not be straight forward.

Methods: The DNAs of referred ARHSP and JALS patients were exome sequenced. Read More

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http://dx.doi.org/10.1002/mgg3.1240DOI Listing

Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.

Brain 2020 May 1. Epub 2020 May 1.

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

Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron disorders characterized by progressive weakness and spasticity of the lower limbs. HSP type 11 (SPG11-HSP) is linked to pathogenic variants in the SPG11 gene and it represents the most frequent form of complex autosomal recessive HSP. The majority of SPG11-HSP patients exhibit additional neurological symptoms such as cognitive decline, thin corpus callosum, and peripheral neuropathy. Read More

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http://dx.doi.org/10.1093/brain/awaa099DOI Listing

and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.

Int J Neurosci 2020 May 13:1-13. Epub 2020 May 13.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

SPG76 is one of the rare forms of hereditary spastic paraplegia (HSP) which causes by mutations in the gene. The mode of inheritance of SPG76 is autosomal recessive (AR) and so far, only 24 families and 25 mutations in this gene have been reported worldwide. These mutations have been associated with a spectrum of disorders from pure HSP to spastic ataxia. Read More

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http://dx.doi.org/10.1080/00207454.2020.1763344DOI Listing

Novel Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype.

J Clin Med 2020 Apr 23;9(4). Epub 2020 Apr 23.

Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, MI 49503, USA.

Homozygous variants in , encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygous missense variant in (c. Read More

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http://dx.doi.org/10.3390/jcm9041212DOI Listing

Extensive Analysis of Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A.

Scientifica (Cairo) 2020 19;2020:8329286. Epub 2020 Apr 19.

Department of Biotechnology, University of Bahri, Khartoum, Sudan.

Background: Hereditary spastic paraplegia type 3A (SPG3A) is a neurodegenerative disease inherited type of Hereditary spastic paraplegia (HSP). It is the second most frequent type of HSP which is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. SPG3A gene mutations and the phenotype-genotype correlations have not yet been recognized. Read More

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http://dx.doi.org/10.1155/2020/8329286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140133PMC

Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis.

Life Sci Alliance 2020 Jun 22;3(6). Epub 2020 Apr 22.

Institute for Genetics, University of Cologne, Cologne, Germany

Lipid droplets (LDs) are metabolic organelles that store neutral lipids and dynamically respond to changes in energy availability by accumulating or mobilizing triacylglycerols (TAGs). How the plastic behavior of LDs is regulated is poorly understood. Hereditary spastic paraplegia is a central motor axonopathy predominantly caused by mutations in , encoding the microtubule-severing protein spastin. Read More

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http://dx.doi.org/10.26508/lsa.202000715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184029PMC

Phenotypic correlations in a large single center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle MRI study.

Eur J Neurol 2020 Apr 22. Epub 2020 Apr 22.

Department of Neurology, Donostia University Hospital, San Sebastian, Spain.

Background: BSCL2 heterozygote mutations are a common cause of distal hereditary motor neuropathies (dHMN). We present a series of BSCL2 patients and correlate clinical, neurophysiological and muscle-MRI findings.

Methods: 26 patients from 5 families carrying the p. Read More

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http://dx.doi.org/10.1111/ene.14272DOI Listing
April 2020
4.055 Impact Factor

Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of (c.611G>A).

J Clin Neurol 2020 Apr;16(2):347-348

Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2020.16.2.347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174107PMC
April 2020
1.807 Impact Factor

Spastin mutations impair coordination between lipid droplet dispersion and reticulum.

PLoS Genet 2020 Apr 21;16(4):e1008665. Epub 2020 Apr 21.

Aging and Muscle Metabolism Lab, Department of Biomedical Sciences, School of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.

Lipid droplets (LD) are affected in multiple human disorders. These highly dynamic organelles are involved in many cellular roles. While their intracellular dispersion is crucial to ensure their function and other organelles-contact, underlying mechanisms are still unclear. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7173978PMC

Selective dorsal rhizotomy for spasticity of genetic etiology.

Childs Nerv Syst 2020 Apr 16. Epub 2020 Apr 16.

Division of Neurosurgery, The Hospital for Sick Children, 555 University Ave, Suite 1503, Toronto, Ontario, M5G 1X8, Canada.

Objective Selective dorsal rhizotomy (SDR) is most commonly applied in the context of the treatment of the spastic diplegic variant of cerebral palsy (CP). Its role in the treatment of spasticity associated with other conditions is not well-established. We sought to review outcomes following SDR for the treatment of functionally limiting spasticity in the setting of a genetic etiology. Read More

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http://dx.doi.org/10.1007/s00381-020-04601-xDOI Listing

Electrophysiological evidence of spino-cortical proprioceptive tracts dysfunction in hereditary spastic paraplegia with thin corpus callosum.

Clin Neurophysiol 2020 Jun 31;131(6):1171-1173. Epub 2020 Mar 31.

Centre de Référence Neuromusculaire, Department of Neurology, CUB Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels, Belgium; Department of Functional Neuroimaging, Service of Nuclear Medicine, CUB Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2020.03.017DOI Listing

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

Eur J Neurol 2020 Apr 16. Epub 2020 Apr 16.

Department of Neurology, Peking University Third Hospital, Beijing, China.

Background And Purpose: Distal hereditary motor neuropathies (dHMNs) are a clinically and genetically heterogeneous group of disorders. The purpose of this study was to identify the genetic distribution of dHMNs in a large cohort of Chinese patients and provide insight into the underlying common pathophysiology of dHMNs.

Methods: Multi-gene panel testing or whole-exome sequencing was performed in 70 index patients with clinically diagnosed dHMN between January 2007 and December 2018. Read More

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http://dx.doi.org/10.1111/ene.14260DOI Listing

Aminoglycosides are efficient reagents to induce readthrough of premature termination codon in mutant B4GALNT1 genes found in families of hereditary spastic paraplegia.

J Biochem 2020 Apr 13. Epub 2020 Apr 13.

Department of Biomedical Sciences, Chubu University College of Life and Health Sciences, Kasugai, Japan.

The readthrough of premature termination codon (PTC) by ribosome sometimes produces full-length proteins. We previously reported a readthrough of PTC of glycosyltransferase gene B4GALNT1 with hereditary spastic paraplegia (HSP). Here we featured the readthrough of B4GALNT1 of two mutants, M4 and M2 with PTC by immunoblotting and flow cytometry after transfection of B4GALNT1 cDNAs into cells. Read More

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http://dx.doi.org/10.1093/jb/mvaa041DOI Listing

A novel mutation in the gene in a Japanese patient with SPG46: A case report.

eNeurologicalSci 2020 Jun 2;19:100238. Epub 2020 Apr 2.

Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.

Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by pyramidal weakness and spasticity of the lower limbs. SPG46, one of autosomal recessive HSP, is clinically characterized by spasticity and pyramidal weakness of the lower limbs, mental retardation, congenital bilateral cataract, thin corpus callosum, and hypogonadism in males. Mutations in the nonlysosomal glucosylceramidase β2 () gene have been identified in patients with SPG46. Read More

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http://dx.doi.org/10.1016/j.ensci.2020.100238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139103PMC

Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.

Parkinsonism Relat Disord 2020 Apr 1;74:12-15. Epub 2020 Apr 1.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

Background: Autosomal dominant GCH1 mutations are known to cause dopa-responsive dystonia (DRD). In this case series, we confirm a variant phenotype, characterized by predominant spastic paraplegia at disease onset with development of dystonia and/or parkinsonism only decades later.

Methods: Clinical trajectories of four patients from three families with pathogenic variants in GCH1 are described, illustrated by videos of the motor phenotype before and during treatment with levodopa. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2020.03.019DOI Listing

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.

Dev Med Child Neurol 2020 Apr 10. Epub 2020 Apr 10.

Child Neurology Unit, Department of Paediatrics, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Aim: To describe the clinical and neurogenetic spectrum of paediatric-onset hereditary spastic paraplegias (HSPs) diagnosed in our unit.

Method: We report on 47 patients (30 males, 17 females; mean [SD] age 12y 7mo [6y 2mo], range 4-34y) clinically diagnosed with an HSP at the Child Neurology Unit, IRCCS-ASMN (Reggio Emilia, Italy) between 1990 and 2018, who were genetically investigated by means of single-gene direct sequencing and/or next-generation sequencing technologies (targeted panels, whole-exome sequencing [WES]).

Results: Complex forms prevailed slightly (n=26), autosomal dominant being the main inheritance pattern (n=11), followed by recessive (n=5) and X-linked (n=1). Read More

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http://dx.doi.org/10.1111/dmcn.14547DOI Listing

A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin.

Muscle Nerve 2020 Apr 8. Epub 2020 Apr 8.

Brain and Mind Centre, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/mus.26882DOI Listing

Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.

Neurol Neurochir Pol 2020 3;54(2):176-184. Epub 2020 Apr 3.

Istanbul University, Istanbul Medical Faculty, Department of Neurology, Istanbul, Turkey.

Objectives: Hereditary spastic paraplegias (HSPs) are a heterogenous group of rare neurodegenerative disorders that present with lower limb spasticity. It is known as complicated HSP if spasticity is accompanied by additional features such as cognitive impairment, cerebellar syndrome, thin corpus callosum, or neuropathy. Most HSP families show autosomal dominant (AD) inheritance. Read More

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http://dx.doi.org/10.5603/PJNNS.a2020.0026DOI Listing

Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.

Neurogenetics 2020 Mar 28. Epub 2020 Mar 28.

Department of Pediatrics, The Second Affiliated Hospital of Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, Zhejiang Province, China.

Hereditary spastic paraplegias (HSP) are a group of rare neurodegenerative diseases characterized by progressive spastic paraparesis. UBAP1 was recently found to induce a rare type of HSP (SPG80). We identified a family with eight inherited spastic paraplegic patients carrying a novel heterozygous mutation c. Read More

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http://dx.doi.org/10.1007/s10048-020-00608-3DOI Listing

Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.

Ann Clin Transl Neurol 2020 Apr 22;7(4):486-496. Epub 2020 Mar 22.

Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.

Objectives: To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan.

Methods: Mutational analysis of the coding regions of CYP7B1 was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The diagnosis of SPG5 was ascertained by the presence of biallelic CYP7B1 mutations. Read More

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http://dx.doi.org/10.1002/acn3.51019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187706PMC

A Rare Missense Mutation Enhances Synaptic Function and Increases Seizure Activity.

Front Genet 2020 27;11:61. Epub 2020 Feb 27.

Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing, China.

Although genetic factors are considered a main etiology of epilepsy, the causes of genetic epilepsy in the majority of epilepsy patients remain unknown. Kinesin family member 1A (KIF1A), a neuron-specific motor protein that moves along with microtubules, is responsible for the transport of membranous organelles and synaptic vesicles. Variants of have recently been associated with hereditary spastic paraplegia (HSP), hereditary sensory and autonomic neuropathy type 2 (HSANII), and intellectual disability. Read More

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http://dx.doi.org/10.3389/fgene.2020.00061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056823PMC
February 2020

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

J Appl Genet 2020 May 12;61(2):213-218. Epub 2020 Mar 12.

Department of Medical Genetics, Medical University of Warsaw, ul. Pawinskiego 3c, 02-106, Warsaw, Poland.

Biallelic mutations in the AP4B1 gene, encoding adaptor-related protein complex 4 beta-1 subunit, have been recognized as an important cause of a group of conditions leading to adaptor-related protein complex 4 (AP4)-associated hereditary spastic paraplegia (SPG47). We describe a homozygous, known variant c.1160_1161delCA (p. Read More

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http://dx.doi.org/10.1007/s13353-020-00552-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7148264PMC

Efficacy of a Combined Treatment of Botulinum Toxin and Intensive Physiotherapy in Hereditary Spastic Paraplegia.

Front Neurosci 2020 21;14:111. Epub 2020 Feb 21.

Acquired Neuropsychological Disease Rehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Pieve di Soligo, Italy.

Introduction: The Hereditary Spastic Paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and lower limbs (LL) weakness. There is no treatment to cure or halt the disease, except for symptomatic therapy. The use of botulinum toxin type A (BoNT-A) is one of the primary treatment for focal spasticity. Read More

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http://dx.doi.org/10.3389/fnins.2020.00111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7046620PMC
February 2020

Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands.

Orphanet J Rare Dis 2020 Mar 4;15(1):64. Epub 2020 Mar 4.

Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, PO Box 9101, 6500, HB, Nijmegen, The Netherlands.

Background: Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spastic paresis of the lower limbs. Treatment is often focused on reducing spasticity and its physical consequences. To better address individual patients' needs, we investigated a broad range of experienced complaints, activity limitations, and loss of motor capacities in pure HSP. Read More

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http://dx.doi.org/10.1186/s13023-020-1338-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057591PMC

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.

Front Neurol 2020 14;11:41. Epub 2020 Feb 14.

Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may co-occur with other motor, sensory, and cognitive impairment. A growing number of loci and genes are being identified, but still more than 50% of the patients remain without molecular diagnosis. Read More

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http://dx.doi.org/10.3389/fneur.2020.00041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7033498PMC
February 2020

Axonal Endoplasmic Reticulum Dynamics and Its Roles in Neurodegeneration.

Front Neurosci 2020 29;14:48. Epub 2020 Jan 29.

Department of Genetics, University of Cambridge, Cambridge, United Kingdom.

The physical continuity of axons over long cellular distances poses challenges for their maintenance. One organelle that faces this challenge is endoplasmic reticulum (ER); unlike other intracellular organelles, this forms a physically continuous network throughout the cell, with a single membrane and a single lumen. In axons, ER is mainly smooth, forming a tubular network with occasional sheets or cisternae and low amounts of rough ER. Read More

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http://dx.doi.org/10.3389/fnins.2020.00048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7025499PMC
January 2020

Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

J Peripher Nerv Syst 2020 Feb 28. Epub 2020 Feb 28.

Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.

Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor neuropathy type V (dHMN-V), and Charcot-Marie-Tooth (CMT) disease type 2. We screened 407 Japanese patients who were clinically suspected of having CMT by exome sequencing and searched mutations in BSCL2. As a result, we identified five patients with heterozygous mutations in BSCL2. Read More

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http://dx.doi.org/10.1111/jns.12369DOI Listing
February 2020

An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).

Sci Rep 2020 Feb 24;10(1):3295. Epub 2020 Feb 24.

Department of Neurology, School of medicine, Kyungpook National University, Kyungpook National University Chilgok hospital, Daegu, Republic of Korea.

Hereditary spastic paraplegia (HSP) is a heterogeneous inherited disorder that manifests with lower extremity weakness and spasticity. HSP can be inherited by autosomal dominant, autosomal recessive, and X-linked inheritance patterns. Recent studies have shown that, although rare, mutations in a single gene can lead to multiple patterns of inheritance of HSP. Read More

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http://dx.doi.org/10.1038/s41598-020-60374-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039913PMC
February 2020
5.078 Impact Factor

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia.

J Vis Exp 2020 Feb 9(156). Epub 2020 Feb 9.

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

Neurons have intense demands for high energy in order to support their functions. Impaired mitochondrial transport along axons has been observed in human neurons, which may contribute to neurodegeneration in various disease states. Although it is challenging to examine mitochondrial dynamics in live human nerves, such paradigms are critical for studying the role of mitochondria in neurodegeneration. Read More

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http://dx.doi.org/10.3791/60548DOI Listing
February 2020

The FTS-Hook-FHIP (FHF) complex interacts with AP-4 to mediate perinuclear distribution of AP-4 and its cargo ATG9A.

Mol Biol Cell 2020 Apr 19;31(9):963-979. Epub 2020 Feb 19.

Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.

The heterotetrameric adaptor protein complex 4 (AP-4) is a component of a protein coat associated with the -Golgi network (TGN). Mutations in AP-4 subunits cause a complicated form of autosomal-recessive hereditary spastic paraplegia termed AP-4-deficiency syndrome. Recent studies showed that AP-4 mediates export of the transmembrane autophagy protein ATG9A from the TGN to preautophagosomal structures. Read More

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http://dx.doi.org/10.1091/mbc.E19-11-0658DOI Listing

Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.

Stem Cell Res 2020 03 4;43:101727. Epub 2020 Feb 4.

Key Laboratory of Experimental Teratology, Ministry of Education, Department of Genetics, School of Basic Medical Sciences, Shandong University, Jinan, Shandong 250012, China; Key Laboratory of Birth Regulation and Control Technology of National Health Commission of China, Maternal and Child Health Care Hospital of Shandong Province, Jinan, 250014, China. Electronic address:

KIF1A gene encodes the kinesin 1a protein, an axonal motor protein participating in axonal transport. Variants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese hereditary spastic paraplegia (HSP) patient carrying a compound heterozygous c. Read More

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http://dx.doi.org/10.1016/j.scr.2020.101727DOI Listing

Spastic paraplegia due to recessive or dominant mutations in can convert to ALS.

Neurol Genet 2019 Dec 13;5(6):e374. Epub 2019 Nov 13.

Institut du Cerveau et de la Moelle épinière (M.-D.-M.A., F.M., E.T., G.S., S.M.), ICM, Inserm U1127, CNRS UMR7225, Sorbonne Université; Département de Neurologie (M.-D.-M.A.), Assistance Publique Hôpitaux de Paris (APHP), Centre de Référence SLA Ile de France, Hôpital de la Pitié-Salpêtrière; Département de Génétique et Cytogénétique (G.B.), Unité Fonctionnelle de neurogénétique moléculaire et cellulaire, APHP, Hôpital Pitié-Salpêtrière, Paris; Centre SLA-MNM (V.D.-B.), Service de Neurologie et Pathologie du Mouvement, Hôpital Roger Salengro, Centre Hospitalier Universitaire (CHU) de Lille; Service de Rééducation Neurologique Cérébrolésion (E.A.), Hôpital Swynghedauw, CHU de Lille; Service de Neurologie (J.-C.A., J.-P.C.), CHU de Saint-Etienne; Service de Neurologie (M.A., G.R., C.T., M.-C.F.), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., G.R., C.T.), Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., G.R., C.T.), Université de Strasbourg; Centre de Référence SLA de Lyon (E.B.), Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, CHU de Lyon, Bron; and Ecole Pratique des Hautes Etudes (G.S.), Paris Sciences Lettres Research University, France.

Objective: The aim of this study was to evaluate whether mutations in , known to cause SPG18, a recessive hereditary spastic paraplegia (SP) responsible for the degeneration of the upper motor neurons leading to weakness and spasticity restricted to the lower limbs, could contribute to amyotrophic lateral sclerosis (ALS), a distinct and more severe motor neuron disease (MND), in which the lower motor neurons also profusely degenerates, leading to tetraplegia, bulbar palsy, respiratory insufficiency, and ultimately the death of the patients.

Methods: Whole-exome sequencing was performed in a large cohort of 200 familial ALS and 60 sporadic ALS after a systematic screening for hexanucleotide repeat expansion. variants identified by exome analysis were validated using Sanger analysis. Read More

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http://dx.doi.org/10.1212/NXG.0000000000000374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927358PMC
December 2019

Identification of a Mutation in SPG11 in an Iranian Patient with Spastic Paraplegia and Ears of the Lynx Sign.

J Mol Neurosci 2020 Feb 10. Epub 2020 Feb 10.

Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Hereditary spastic paraplegia (HSP) includes a number of inherited disorders which are characterized by stiffness in the lower extremities and progressive gait disturbance. Mutations in terms of spastic gait genes (SPGs) are responsible for occurrence of different types of HPS with autosomal recessive, X-linked recessive, and autosomal dominant modes of inheritance. In the current case report, we identified a mutation in SPG11 gene in a female patient with progressive stiffness of lower extremities and atrophy of corpus callosum and the "lynx ear" sign in brain MRI. Read More

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http://dx.doi.org/10.1007/s12031-020-01501-2DOI Listing
February 2020

Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: , , and Variants Account for 3% of Rare Genetic Forms.

J Clin Med 2020 Feb 3;9(2). Epub 2020 Feb 3.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.

Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease due to motor neuron loss variably associated with frontotemporal dementia (FTD). Next generation sequencing technology revealed an increasing number of rare and novel genetic variants and interpretation of their pathogenicity represents a major challange in the diagnosis of ALS. We selected 213 consecutive patients with sporadic or familial (16%) ALS, tested negative for , , , and mutations. Read More

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http://dx.doi.org/10.3390/jcm9020412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073901PMC
February 2020

Desflurane for management of decompressive laminectomy in a patient with hereditary spastic paraplegia: a case report.

JA Clin Rep 2019 Apr 30;5(1):30. Epub 2019 Apr 30.

Department of Anesthesiology and Critical Care Medicine, Asahikawa Medical University, Midorigaoka-higashi 2-1-1-1, Asahikawa, Hokkaido, 078-8510, Japan.

Background: Hereditary spastic paraplegia (HSP) is a rare, genetic neurodegenerative condition. Thus far, ideal anesthetic management is not established for patients with HSP; therefore, careful selection and dosage of anesthetic agents is required.

Case Presentation: A 54-year-old woman with HSP, who was diagnosed with severe lumbar spinal canal stenosis, underwent decompressive laminectomy to relieve her back pain. Read More

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http://dx.doi.org/10.1186/s40981-019-0250-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966742PMC

Δ -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.

J Inherit Metab Dis 2020 Feb 4. Epub 2020 Feb 4.

Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.

The bifunctional homooligomeric enzyme Δ -pyrroline-5-carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were associated with disease in 1998. Two siblings who presented paradoxical hyperammonemia (alleviated by protein), mental disability, short stature, cataracts, cutis laxa, and joint laxity, were found to carry biallelic ALDH18A1 mutations. They showed biochemical indications of decreased ornithine/proline synthesis, agreeing with the role of P5CS in the biosynthesis of these amino acids. Read More

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http://dx.doi.org/10.1002/jimd.12220DOI Listing
February 2020

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.

Neurosci Lett 2020 Mar 30;721:134800. Epub 2020 Jan 30.

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

Hereditary spastic paraplegia (HSP or SPG) is a group of rare upper motor neuron diseases. As some ethnically-specific, disease-causing homozygous variants were described in the Czech Roma population, we hypotesised that some prevalent HSP-causing variant could exist in this population. Eight Czech Roma patients were found in a large group of Czech patients with suspected HSP and were tested using gene panel massively parallel sequencing (MPS). Read More

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http://dx.doi.org/10.1016/j.neulet.2020.134800DOI Listing

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

J Neurol Sci 2020 Apr 11;411:116669. Epub 2020 Jan 11.

University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan.

Bakground: Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two unrelated consanguineous Pakistani families presented with 2 different forms of HSP.

Methods: Whole exome sequencing (WES) was performed in the two families and variants were validated by Sanger sequencing and segregation analysis. Read More

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http://dx.doi.org/10.1016/j.jns.2020.116669DOI Listing
April 2020
2.474 Impact Factor

Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family.

Acta Neurol Belg 2020 Jan 30. Epub 2020 Jan 30.

Department of Neurology, The First Affiliated Hospital of Shandong First Medical University, Jinan, 250014, People's Republic of China.

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http://dx.doi.org/10.1007/s13760-020-01286-6DOI Listing
January 2020

Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.

J Neurol Sci 2020 Apr 18;411:116691. Epub 2020 Jan 18.

Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, PR China. Electronic address:

Background: Mutations in CAPN1 have recently been reported to cause the spastic paraplegia 76 (SPG76) subtype of hereditary spastic paraplegia (HSP). To investigate the role of CAPN1 in spastic paraplegia and other neurodegenerative diseases, including spinocerebellar ataxia (SCA), early-onset Parkinson's disease (EOPD), and amyotrophic lateral sclerosis (ALS) we conducted a mutation analysis of CAPN1 in a cohort of Chinese patients with SPG, SCA, EOPD, and ALS.

Methods: Variants of CAPN1 were detected in the three cohorts by Sanger or whole-exome sequencing, and all exons and exon-intron boundaries of CAPN1 were analysed. Read More

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http://dx.doi.org/10.1016/j.jns.2020.116691DOI Listing
April 2020
2.474 Impact Factor

A Case Study of Hereditary Spastic Paraplegia.

J Assoc Physicians India 2020 Jan;68(1):61

NMCH, Patna.

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January 2020

X-Linked Adrenoleukodystrophy Mimicking Hereditary Spastic Paraplegia.

Mov Disord Clin Pract 2020 Jan 11;7(1):109-110. Epub 2019 Nov 11.

Department of Neurology, Ataxia Unit Universidade Federal de São Paulo São Paulo SP Brazil.

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http://dx.doi.org/10.1002/mdc3.12858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962678PMC
January 2020

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

Mol Genet Genomic Med 2020 Mar 15;8(3):e1052. Epub 2020 Jan 15.

Department of Human Genetics, McGill University, Montréal, QC, Canada.

Background: Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms. Mutations in ATP13A2, known to cause Kufor-Rakeb syndrome (KRS), have been recently implicated in HSP.

Methods: Whole-exome sequencing was done in a Canada-wide HSP cohort. Read More

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http://dx.doi.org/10.1002/mgg3.1052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057081PMC

Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias.

Arq Neuropsiquiatr 2019 12;77(12):843-847

Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Ciências Médicas, Porto Alegre RS, Brasil.

Objectives: Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to significant respiratory and nutritional complications. The aim of this study was to evaluate the frequency and clinical characteristics of dysphagia in different types of HSP. Read More

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http://dx.doi.org/10.1590/0004-282X20190180DOI Listing
December 2019

Evaluation of swallowing in patients with hereditary spastic paraplegias.

Arq Neuropsiquiatr 2019 12;77(12):841-842

Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Centro Europeo di Ricerca sul Cervello (CERC), Laboratorio di Neurogenetica, Rome, Italy.

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http://dx.doi.org/10.1590/0004-282X20190153DOI Listing
December 2019

: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia.

Front Neurosci 2019 10;13:1311. Epub 2019 Dec 10.

Neurobiology and Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

Hereditary spastic paraplegia (HSP) and hereditary ataxia (HA) are two groups of disorders characterized, respectively, by progressive dysfunction or degeneration of the pyramidal tracts (HSP) and of the Purkinje cells and spinocerebellar tracts (HA). Although HSP and HA are generally shown to have distinct clinical-genetic profiles, in several cases the clinical presentation, the causative genes, and the cellular pathways and mechanisms involved overlap between the two forms. Genetic analyses in humans in combination with and studies using model systems have greatly expanded our knowledge of spinocerebellar degenerative disorders. Read More

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http://dx.doi.org/10.3389/fnins.2019.01311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6914767PMC
December 2019