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Neurodegenerative group

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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These conditions include:

  • spinobulbar muscular atrophy (Kennedy's disease)
  • Huntington's disease
  • spinocerebellar ataxia type 1
  • spinocerebellar ataxia type 2
  • spinocerebellar ataxia type 3 (Machado-Joseph disease)
  • dentatorubral-pallidoluysian atrophy
  • Friedreich's ataxia

Typically the disorders are characterized by:

  • amplification of the CAG repeat
  • the CAG's are translated into tracts of glutamines
  • small numbers of repeats in affected individuals, usually <100
  • adult onset
  • genetic anticipation is not as marked as in the mental retardation group; nevertheless, larger numbers of repeats result in early onset and severe disease

Friedreich's ataxia is exceptional:

  • a GAA trinucleotide is expanded
  • there is no clear genetic anticipation
  • inheritance is autosomal recessive
  • onset is earlier, typically in adolescence

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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