Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients

There have been only few studies of brain magnetic resonance imaging (MRI) in spinocerebellar ataxia (SCA) type 2. We investigated 20 SCA2 patients, f rom 11 Sicilian families, and 20 age-matched control subjects using MRI. Ou r data confirm that olivopontocerebellar atrophy (OPCA) is the typical patt ern in SCA2. We found no significant correlation between infratentorial atr ophy, disease duration, or the number of CAG repeats in our SCA2 patients, but there was supratentorial atrophy in 12 patients, with a significant cor relation between supratentorial atrophy and disease duration. OPCA appears to represent the "core" of the SCA2: however, central nervous system involv ement is not limited to pontocerebellar structures. We therefore consider c entral nervous system degeneration in SCA2 as a widespread atrophy. MRI is helpful in diagnosing SCA, but it is not diagnostic in the absence of clini cal and molecular studies. We suggest that serial MRI may play a role in ev aluating "in vivo" the progressive steps of neurodegeneration in SCA2, for a better comprehension of the pathophysiology of this disorder.