spinocerebellar ataxia 27A

An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome

An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome.

Signs and symptoms

• Gaze-evoked nystagmus
• Limb ataxia
• Gait ataxia
• Dysarthria
• Impaired vibratory sensation
• Orofacial dyskinesia
• Strabismus
• Postural tremor
• Upbeat nystagmus
• Abnormal vestibulo-ocular reflex

Also known as: SCA27A; autosomal dominant congenital nystagmus 4; congenital nystagmus 4; spinocerebellar ataxia type 27; vestibulocerebellar disorder with predominant ocular signs