Associated Papers
Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.
Piervincenzi C et al.
Journal of Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations
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
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Ferese R et al.
Frontiers in Neurology, 2023
Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy.
Jung JH et al.
Journal of Movement Disorders, 2022
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Estiar MA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Parodi L et al.
Brain : a Journal of Neurology, 2018
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
Nanetti L et al.
Neuroscience Letters, 2012
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
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
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Patrono C et al.
Human Mutation, 2005
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.
Falco M et al.
Neuromuscular Disorders : Nmd, 2004
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