Conditions / Genetic
spinocerebellar ataxia 27B
info · Genetic
An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14
An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33.
Signs and symptoms
- Gait ataxia
- Limb ataxia
- Cerebellar atrophy
- Gaze-evoked horizontal nystagmus
- Dysarthria
- Diplopia
- Vertigo
- Downbeat nystagmus
- Postural tremor
Also known as: SCA27B