Associated Papers
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights.
Kang C et al.
Movement Disorders Clinical Practice, 2026
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Wang XC et al.
Molecular Medicine Reports, 2023
Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
Ikeda A et al.
Frontiers in Neurology, 2023
Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia.
Rizo T et al.
Brain : a Journal of Neurology, 2022
Oxidative Stress-Induced Axon Fragmentation Is a Consequence of Reduced Axonal Transport in Hereditary Spastic Paraplegia SPAST Patient Neurons.
Wali G et al.
Frontiers in Neuroscience, 2020
De novo SPAST mutations may cause a complex SPG4 phenotype.
Schieving JH et al.
Brain : a Journal of Neurology, 2019
Autonomic dysfunction in hereditary spastic paraplegia type 4.
González-Salazar C et al.
European Journal of Neurology, 2019
Patient-Derived Stem Cell Models in SPAST HSP: Disease Modelling and Drug Discovery.
Wali G et al.
Brain Sciences, 2018
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban V et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.
Allison R et al.
The Journal of Cell Biology, 2017
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.
Denton KR et al.
Frontiers in Biology, 2016
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
Balicza P et al.
Journal of the Neurological Sciences, 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
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Solowska JM et al.
Brain : a Journal of Neurology, 2015
High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
Lan MY et al.
Bmc Neurology, 2014
Human-induced pluripotent stem cells pave the road for a better understanding of motor neuron disease.
Winner B et al.
Human Molecular Genetics, 2014
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.
Havlicek S et al.
Human Molecular Genetics, 2014
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
Nanetti L et al.
Neuroscience Letters, 2012
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 2012
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V et al.
Bmc Neurology, 2010
Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
Thomsen B et al.
Neurogenetics, 2010
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
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.
Depienne C et al.
Neurogenetics, 2007
Clinical features of hereditary spastic paraplegia due to spastin mutation.
McDermott CJ et al.
Neurology, 2006
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
Sauter S et al.
Human Mutation, 2002