Regular Paper

Acta Neuropathologica

, Volume 90, Issue 6, pp 572-581

Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype

  • Yves RobitailleAffiliated withUniversity of MontrealDepartment of Pathology, Hôpital Ste-Justine
  • , Lawrence SchutAffiliated withUniversity of Minnesota
  • , Stephen J. KishAffiliated withHuman Neurochemical Pathology Laboratory, Clarke Institute of Psychiatry

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Abstract

Neuropathological investigations performed on autopsied brain and spinal cords from 11 patients showed that spinocerebellar ataxia type 1 (SCA-1) can be distinguished from autosomal dominant spinocerebellar ataxia linked to SCA-2 and-3 loci on chromosomes 12 and 14, spinopontine, and the multisystem atrophies. The major diagnostic criteria were: absence of significant pars compacta nigral and locus coeruleus lesions, severe degeneration of olivocerebellar and dentatorubral pathways, extensive loss of Purkinje cells with partial sparing of flocculonodular lobes, severe atrophy of specific cranial nerve nuclei, mostly the third and 12th, extensive loss of motor neurons in anterior horns and Clarke's columns, and lack of oligodendroglial or neuronal cytoplasmic cytoskeletal inclusions. None of the brain displayed any significant immunoreactivity for the amyloid precursor protein or β-amyloid peptide throughout the cortex. In conclusion, the type and neuroanatomical distribution of structural lesions were similarly reproduced in all probands at the end stage of SCA-1, to the point that they appeared to constitute a unique phenotype.

Key words

Olivopontocerebellar atrophy Spinocerebellar ataxia type 1 Dentatorubral atrophy Ataxia