Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments

Neuropathol Appl Neurobiol. 2008 Apr;34(2):155-68. doi: 10.1111/j.1365-2990.2007.00882.x. Epub 2007 Oct 26.

Abstract

Spinocerebellar ataxia type 7 (SCA7) represents a rare and severe autosomal dominantly inherited ataxic disorder and is among the known CAG-repeat, or polyglutamine, diseases. In contrast to other currently known autosomal dominantly inherited ataxic disorders, SCA7 may manifest itself with different clinical courses. Because the degenerative changes evolving during these different clinical courses are not well known, many neurological disease symptoms still are unexplained. We performed an initial pathoanatomical study on unconventional thick tissue sections of the brain of a clinically diagnosed and genetically confirmed adult-onset SCA7 patient with progressive visual impairments. In this patient we observed loss of myelinated fibres in distinct central nervous fibre tracts, and widespread degeneration of the cerebellum, telencephalon, diencephalon and lower brainstem. These degenerative changes offer appropriate explanations for a variety of less-understood neurological symptoms in adult-onset SCA7 patients with visual impairments: gait, stance and limb ataxia, falls, dysarthria, dysphagia, pyramidal signs, Parkinsonian features, writing problems, impairments of saccades and smooth pursuits, altered pupillary functions, somatosensory deficits, auditory deficits and mental impairments.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Ataxin-7
  • Brain / metabolism
  • Brain / pathology*
  • Female
  • Humans
  • Inclusion Bodies / metabolism
  • Inclusion Bodies / pathology
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / metabolism
  • Pedigree
  • Retina / metabolism
  • Retina / pathology*
  • Spinocerebellar Ataxias / complications
  • Spinocerebellar Ataxias / pathology*
  • Spinocerebellar Ataxias / physiopathology*
  • Vision Disorders / etiology*

Substances

  • ATXN7 protein, human
  • Ataxin-7
  • Nerve Tissue Proteins