Associated Papers
Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.
Choi Y et al.
Yonsei Medical Journal, 2026
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.
Miroglio R et al.
Brain Communications, 2025
A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.
Jin YH et al.
Molecular Biology Reports, 2024
Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.
Yao L et al.
Clinical Genetics, 2024
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Identification of c.1495C > T mutation in SPAST gene in a family of Han Chinese with hereditary spastic paraplegia.
Chen X et al.
Neuroscience Letters, 2023
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S et al.
Cells, 2022
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene.
Xu L et al.
Case Reports in Genetics, 2021
Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
Zhu Z et al.
Parkinsonism & Related Disorders, 2019
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.
Yan YT et al.
Clinical Genetics, 2019
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Jacinto-Scudeiro LA et al.
Frontiers in Neurology, 2019
Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
Gillespie MK et al.
Journal of Child Neurology, 2018
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
Mészárosová AU et al.
Journal of Human Genetics, 2016
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
Park H et al.
Journal of the Neurological Sciences, 2015
Multimodal MRI-based study in patients with SPG4 mutations.
Rezende TJ et al.
Plos One, 2015
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K et al.
Journal of the Neurological Sciences, 2009
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
Boukhris A et al.
Clinical Genetics, 2009
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
Shoukier M et al.
European Journal of Human Genetics : Ejhg, 2009
Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild-type spastin into filamentous microtubule.
Pantakani DV et al.
Journal of Neurochemistry, 2008
Mental deficiency in three families with SPG4 spastic paraplegia.
Ribaï P et al.
European Journal of Human Genetics : Ejhg, 2008
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.
Erichsen AK et al.
European Journal of Neurology, 2007
Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing.
White SR et al.
The Journal of Cell Biology, 2007
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
Depienne C et al.
Journal of Medical Genetics, 2006
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.
Evans KJ et al.
The Journal of Cell Biology, 2005
Spastin gene mutation in Japanese with hereditary spastic paraplegia.
Yabe I et al.
Journal of Medical Genetics, 2002
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Errico A et al.
Human Molecular Genetics, 2002
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
Svenson IK et al.
American Journal of Human Genetics, 2001
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N et al.
Human Molecular Genetics, 2000
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Hazan J et al.
Nature Genetics, 1999