Spinocerebellar Ataxia Type 3: A Case Report and Literature Review

Matthew R. McCord, Eileen H. Bigio, Kwok Ling Kam, Victoria Fischer, Farres Obeidin, Charles L. White, Daniel J. Brat, William A. Muller, Qinwen Mao

Research output: Contribution to journalArticle

Abstract

Spinocerebellar ataxia type 3 (SCA3), also known by the eponym Machado-Joseph disease, is an autosomal dominant CAG trinucleotide (polyglutamine) repeat disease that presents in young- to middle-aged adults. SCA3 was first described in Azorean individuals and has interesting epidemiological patterns. It is characterized clinically by progressive ataxia and neuropathologically by progressive degenerative changes in the spinal cord and cerebellum, along with degeneration of the cortex and basal ganglia. Here, we describe the clinical and neuropathologic features in a case of SCA3 with unique findings, including involvement of the inferior olivary nucleus and cerebellar Purkinje cell layer, which are classically spared in the disease. We also discuss research into the disease mechanisms of SCA3 and the potential for therapeutic intervention.

Original languageEnglish (US)
Pages (from-to)641-646
Number of pages6
JournalJournal of neuropathology and experimental neurology
Volume79
Issue number6
DOIs
StatePublished - Jun 1 2020

Keywords

  • CAG repeat
  • Cortical sparing
  • Inferior olivary nucleus
  • Machado-Joseph disease
  • Polyglutamine disease
  • Spinocerebellar ataxia type 3

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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