Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.F469delFs
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SPAST

NM_014946.4:p.F469delFs

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 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

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.

Giannoccaro MP et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.

Mead SH et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2001

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Lindsey JC et al.

Journal of Medical Genetics, 2000

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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."