Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.N386S
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SPAST

NM_014946.4:p.N386S

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1.

Mizuno Y et al.

Journal of Sleep 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

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Alvarez-Mora MI et al.

Genes, 2023

37107571 (PubMed )
Supplement: genes-14-00813-s001.zip › genes-2265012-supplementary.pdf

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

[Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular-genetic characteristics].

Rudenskaia GE et al.

Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2010

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

Meijer IA et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2007

Spastin related hereditary spastic paraplegia with dysplastic corpus callosum.

Alber B et al.

Journal of the Neurological Sciences, 2005

Hereditary spastic paraplegia: clinical genetic study of 15 families.

Orlacchio A et al.

Archives of Neurology, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."