[Correlation of clinichopathological features and CAG repeats in SCA2]

Spinocerebellar ataxia type 2 (SCA2) is an inherited neurodegenerative disorder characterized clinically by cerebellar ataxia, slow eye movement, hyporeflexia, involuntary movement, dementia and sensory disturbance and neuropathologically by neuronal loss, mainly in the cerebellar cortex involving all three layers, the pontine nucleus, the inferior olivary nucleus, anterior horn, substantia nigra and thalamus. For making one's diagnosis, it is necessary to give careful consideration to two factors, (age at onset, disease duration). A distinctive neuropathological feature is having both simple atrophy (without degeneration) and numerical atrophy. SCA2 is associated with an expanded CAG repeat that encodes polyglutamine of a gene and a larger number of the repeat is associated with earlier onset and more severe symptoms and more severe neuronal degenerations.