Ataxia - adult onset
Gene: SPTAN1
15/31 individuals from 26 unrelated families carrying heterozygous variants in SPTAN1 manifested ataxia, usually with HSP. There were 2 patients with pure ataxia. Suggested that the mechanism of disease for these heterozygous variants was suspected to be dominant negative. Variable age of onset from paediatric to adult onset.
Sources: LiteratureCreated: 3 Mar 2025, 9:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Gene: sptan1 has been classified as Green List (High Evidence).
Gene: sptan1 has been classified as Green List (High Evidence).
gene: SPTAN1 was added gene: SPTAN1 was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 36331550 Phenotypes for gene: SPTAN1 were set to Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813 Mode of pathogenicity for gene: SPTAN1 was set to Other Review for gene: SPTAN1 was set to GREEN gene: SPTAN1 was marked as current diagnostic