New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease)

Curr Opin Neurol. 2008 Apr;21(2):111-6. doi: 10.1097/WCO.0b013e3282f7673d.


Purpose of review: This review summarizes recent neuropathological findings in spinocerebellar ataxia type 3 and discusses their relevance for clinical neurology.

Recent findings: The extent of the spinocerebellar ataxia type 3 related central nervous neurodegenerative changes has been recently systematically investigated in a series of pathoanatomical studies. These studies showed that the extent of the central nervous degenerative changes of spinocerebellar ataxia type 3 has been underestimated so far. The newly described pattern of central nervous neurodegeneration includes the visual, auditory, vestibular, somatosensory, ingestion-related, dopaminergic and cholinergic systems. These pathological findings were correlated with clinical findings and explain a variety of the spinocerebellar ataxia type 3 symptoms observed in clinical practice.

Summary: Systematic pathoanatomical analysis of spinocerebellar ataxia type 3 brains helps to understand the structural basis of this neurodegenerative disease and offers explanations for a variety of disease symptoms. This better understanding of the neuropathology of the condition has implications for the treatment of spinocerebellar ataxia type 3 patients and represents a basis for further biochemical and molecular biological studies aimed at deciphering the pathomechanisms of this progressive ataxic disorder.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Brain / pathology*
  • Brain / physiopathology
  • Diagnosis, Differential
  • Disease Progression
  • Humans
  • Machado-Joseph Disease / pathology*
  • Machado-Joseph Disease / physiopathology
  • Middle Aged
  • Nerve Degeneration / pathology
  • Nerve Degeneration / physiopathology
  • Nerve Fibers, Myelinated / pathology
  • Neural Pathways / pathology
  • Neural Pathways / physiopathology
  • Neurons / metabolism
  • Neurons / pathology*
  • Neurotransmitter Agents / metabolism


  • Neurotransmitter Agents