Juvenile Huntington's disease: Does a dosage-effect pathogenic mechanism differ from the classical adult disease?

Ferdinando Squitieri, Luigi Frati, Andrea Ciarmiello, Secondo Lastoria, Oliver Quarrell

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

Huntington's disease (HD) is caused by a CAG repeat mutation translating as a polyglutamine (poly(Q)) expansion in the huntingtin protein, whose main pathogenic mechanism is a gain of toxic function. In the case of large expansions beyond 60 repeats onset may result in juvenile HD (JHD, onset before 20 years of age). However, the triplet number does not represent the only onset modifier even in case of large expansions, mechanisms other than the size of the mutation contribute to the phenotype. In this review we discuss the possibility that some of the pathogenic mechanisms contributing to age at onset and progression may differ in the early onset HD compared with the classical adult pathology.

Original languageEnglish
Pages (from-to)208-212
Number of pages5
JournalMechanisms of Ageing and Development
Volume127
Issue number2
DOIs
Publication statusPublished - Feb 2006

Fingerprint

Huntington Disease
Mutation
Poisons
Pathology
Age of Onset
Phenotype
Proteins

Keywords

  • Age at onset
  • Clinics of juvenile Huntington disease
  • Genetics of Huntington disease
  • Infantile Huntington disease
  • Juvenile Huntington disease

ASJC Scopus subject areas

  • Ageing
  • Biochemistry
  • Developmental Biology
  • Developmental Neuroscience

Cite this

Juvenile Huntington's disease : Does a dosage-effect pathogenic mechanism differ from the classical adult disease? / Squitieri, Ferdinando; Frati, Luigi; Ciarmiello, Andrea; Lastoria, Secondo; Quarrell, Oliver.

In: Mechanisms of Ageing and Development, Vol. 127, No. 2, 02.2006, p. 208-212.

Research output: Contribution to journalArticle

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