spinocerebellar ataxia type 27

spinocerebellar ataxia type 27

An autosomal dominant form of cerebellar ataxia (OMIM:609307).
Clinical findings
Slowly progressive, late-childhood to early adulthood onset of ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits.
Molecular pathology
SCA27 is caused by defects in FGF14 on chromosome 13q34, which encodes fibroblast growth factor 14.