Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions

Ann Neurol. 1996 Feb;39(2):241-55. doi: 10.1002/ana.410390214.

Abstract

Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited progressive neurological disorder characterized by neuronal degeneration and reactive gliosis in the cerebellum, brainstem, spinocerebellar tracts, and dorsal columns. Multiple system atrophy is a sporadic progressive neurological disorder with degeneration and gliosis in the basal ganglia, cerebellum, brainstem, and spinal autonomic nuclei, and with argyrophilic glial cytoplasmic inclusions. We describe 4 members of a family with the SCA1 mutation and a dominantly inherited progressive ataxia in which autopsy examination of 1 member showed neuropathological changes typical of multiple system atrophy, including glial cytoplasmic inclusions. In this patient, magnetic resonance imaging revealed marked brainstem and cerebellar volume loss and mild supratentorial generalized volume loss. Positron emission tomography with [18F]fluorodeoxyglucose revealed widespread hypometabolism in a pattern found in sporadic multiple system atrophy and not in dominantly inherited olivopontocerebellar atrophy. Positron emission tomography with [11C]flumazenil revealed normal benzodiazepine receptor distribution volumes, similar to those seen in sporadic multiple system atrophy. Two other family members still living had similar changes in the imaging studies. The findings in this family suggest that the SCA1 gene mutation can result in a disorder similar to multiple system atrophy, both clinically and neuropathologically.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Brain / pathology
  • Female
  • Humans
  • Immunohistochemistry
  • Inclusion Bodies / ultrastructure*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation
  • Nerve Degeneration*
  • Neuroglia / ultrastructure*
  • Pedigree
  • Reference Values
  • Spinocerebellar Degenerations / diagnostic imaging
  • Spinocerebellar Degenerations / genetics
  • Spinocerebellar Degenerations / pathology*
  • Tomography, Emission-Computed