Autosomal recessive spinocerebellar ataxia 14

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

Also known as: Ataxie spinocérébelleuse à début infantile avec retard psychomoteur, SCAR14, SPARCA, SPARCA1, SPTBN2 autosomal recessive cerebellar ataxia, autosomal recessive cerebellar ataxia caused by mutation in SPTBN2, autosomal recessive cerebellar ataxia-cognitive defect syndrome, autosomal recessive spinocerebellar ataxia type 14

18 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive spinocerebellar ataxia 14 itself.