Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies

Eleven autopsies of patients from the large founder-population with dominan tly inherited spinocerebellar ataxia 2 (SCA2) in Holguin, Cuba, were analyz ed by the same observers, including quantitative microscopic evaluation. As expected in this disease with highly unstable polyglutamine expansions, co nsiderable variability was observed, which correlated to age at onset and t o progression of clinical symptoms. The degeneration of the olivopontocereb ellar regions as in classical olivopontocerebellar atrophy occurred early a nd severely in SCA2. The neuropathological progression soon included neuron al loss in the substantia nigra, striatum, pallidum and later even the neoc ortex, while the dentate nucleus was consistently spared. This widespread d egeneration pattern goes clearly beyond purely cerebellar degenerations suc h as SCA5 and 6 and beyond spinocerebellar degenerations such as SCA1, 3, 7 , also involves regions known to degenerate in Huntington's disease, and is quite similar to the degeneration pattern in sporadic patients with multis ystem atrophy.