Autosomal recessive spinocerebellar ataxia 14
Autosomal recessive spinocerebellar ataxia 14
Definition
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, autosomal recessive cerebellar ataxia caused by mutation in SPTBN2, autosomal recessive cerebellar ataxia-cognitive defect syndrome, autosomal recessive spinocerebellar ataxia type 14, infantile-onset spinocerebellar ataxia-psychomotor delay syndrome, SCAR14, SPARCA, SPARCA1, spectrin-associated autosomal recessive cerebellar ataxia type 1, spinocerebellar ataxia, autosomal recessive type 14, SPTBN2 autosomal recessive cerebellar ataxia — per MONDO