Morphological Purkinje cell changes in spinocerebellar ataxia type 6

Acta Neuropathol. 2000 Oct;100(4):371-6. doi: 10.1007/s004010000201.

Abstract

Spinocerebellar ataxia type 6 (SCA6) was recently identified as a form of autosomal dominant spinocerebellar ataxia associated with a small CAG repeat expansion of the gene encoding an alpha 1 A-voltage-dependent calcium channel gene subunit on chromosome 19p13. In this study 50-microm-thick sections of cerebellar tissue from one patient with SCA6 were subjected to free-floating immunohistochemical staining with calbindin-D and parvalbumin antibodies. Severe loss of Purkinje cells was found, particularly in the vermis, and various morphological changes in Purkinje cells and their dendritic arborizations were demonstrated. Many of the remaining Purkinje cells were found to have heterotopic, irregularly shaped nuclei, an unclear cytoplasmic membrane outline, and somatic sprouts. Increased numbers of spine-like protrusions from swelling dendritic arborizations were found in the molecular layer. The axonal arrangement was disordered, and many torpedos were found in the granular layer and white matters. These morphological changes are completely different from those observed in paraneoplastic cerebellar degeneration (PCD) and multiple system atrophy (MSA) and are considered to be related to the genetic abnormality that causes abnormal development of Purkinje cells.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Aged
  • Axons / ultrastructure
  • Calbindins
  • Cell Nucleus / ultrastructure
  • Cerebellum / chemistry
  • Dendrites / ultrastructure
  • Humans
  • Male
  • Paraneoplastic Syndromes / metabolism
  • Paraneoplastic Syndromes / pathology
  • Purkinje Cells / ultrastructure*
  • S100 Calcium Binding Protein G / analysis
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / metabolism
  • Spinocerebellar Ataxias / pathology*
  • Trinucleotide Repeats

Substances

  • Calbindins
  • S100 Calcium Binding Protein G