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

doi:10.1016/j.mad.2005.09.012

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 journal › Article › peer-review

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 language	English
Pages (from-to)	208-212
Number of pages	5
Journal	Mechanisms of Ageing and Development
Volume	127
Issue number	2
DOIs	https://doi.org/10.1016/j.mad.2005.09.012
Publication status	Published - Feb 2006

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

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

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.",

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author = "Ferdinando Squitieri and Luigi Frati and Andrea Ciarmiello and Secondo Lastoria and Oliver Quarrell",

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AU - Frati, Luigi

AU - Ciarmiello, Andrea

AU - Lastoria, Secondo

AU - Quarrell, Oliver

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

Abstract

Keywords

ASJC Scopus subject areas

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