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Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterised by a gradual loss of motor coordination, resulting from dysfunction and degeneration of the cerebellum and its connecting pathways.1,2 This disease is caused by expansion of a CAG trinucleotide repeat within the SCA1 gene, which encodes a protein called ataxin-1.1,2 The first and most typical neurological symptom of SCA1 is cerebellar ataxia. Additional symptoms comprise the slowing of saccades, ophthalmoplegia, dysarthria, pyramidal sign and involuntary movement.1,2 As regards ophthalmological abnormalities of SCA1, decreased visual acuity owing to optic atrophy, attenuation of oscillatory potentials of electroretinogram and enlargement of corneal endothelial cells have been reported.3 Hence, pigmentary macular dystrophy (PMD) has not been recognised as a clinical feature of SCA1, although it is well established as a major symptom of spinocerebellar ataxia type 7 (SCA7), which is caused by expansion of a …
Competing interests: None declared.
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