Spinocerebellar Ataxia, Autosomal Recessive 11

A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-11 (SCAR11) is caused by homozygous mutation in the SYT14 gene (610949) on chromosome 1q32. One such family has been reported.

Clinical Features

Doi et al. (2011) reported 2 Japanese brothers, born of consanguineous parents, with spinocerebellar ataxia associated with psychomotor retardation. One patient had mild psychomotor retardation since childhood, graduated from a normal junior high school, and held a job for several years, whereas the other had more severe psychomotor retardation, went to a school for the disabled, and later lived in an assisted facility. Both developed a progressive gait disorder in their fifties, followed by dysarthria, limb ataxia, truncal ataxia, and disturbance of smooth eye movements. One had nystagmus. Neither had involuntary movements. Brain MRI showed mild atrophy of the cerebellar vermis and hemispheres.

Inheritance

The transmission pattern of spinocerebellar ataxia in the family reported by Doi et al. (2011) was consistent with autosomal recessive inheritance.

Molecular Genetics

By homozygosity mapping followed by whole-exome sequencing in 2 Japanese brothers with autosomal recessive SCA and mild to moderate psychomotor retardation, Doi et al. (2011) identified a homozygous mutation in the SYT14 gene (G484D; 610949.0001).