Ataxia - paediatric
Gene: SLC44A1
Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: LiteratureCreated: 20 Apr 2020, 10:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Childhood-onset neurodegeneration; progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria; Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MIM# 618868
Publications
Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: LiteratureCreated: 20 Apr 2020, 4:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Publications
Gene: slc44a1 has been classified as Green List (High Evidence).
Gene: slc44a1 has been classified as Green List (High Evidence).
gene: SLC44A1 was added gene: SLC44A1 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC44A1 were set to 31855247 Phenotypes for gene: SLC44A1 were set to Childhood-onset neurodegeneration; progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Review for gene: SLC44A1 was set to GREEN