Associated Papers
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Amprosi M et al.
Journal of Neurology, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
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
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
De novo SPAST mutations may cause a complex SPG4 phenotype.
Schieving JH et al.
Brain : a Journal of Neurology, 2019
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
28572275 (PubMed )
Supplement: jnnp-2017-315796supp001.pdf
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K et al.
Journal of the Neurological Sciences, 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
Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
Orlacchio A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
Beetz C et al.
Neurology, 2006
Clinical features of hereditary spastic paraplegia due to spastin mutation.
McDermott CJ et al.
Neurology, 2006
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
Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin).
Schickel J et al.
Neurology, 2006
Select a paper to view details