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 | |
| Publication status | Published - Feb 2006 |
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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 journal › Article
}
TY - JOUR
T1 - Juvenile Huntington's disease
T2 - Does a dosage-effect pathogenic mechanism differ from the classical adult disease?
AU - Squitieri, Ferdinando
AU - Frati, Luigi
AU - Ciarmiello, Andrea
AU - Lastoria, Secondo
AU - Quarrell, Oliver
PY - 2006/2
Y1 - 2006/2
N2 - 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.
AB - 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.
KW - Age at onset
KW - Clinics of juvenile Huntington disease
KW - Genetics of Huntington disease
KW - Infantile Huntington disease
KW - Juvenile Huntington disease
UR - http://www.scopus.com/inward/record.url?scp=31544447731&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=31544447731&partnerID=8YFLogxK
U2 - 10.1016/j.mad.2005.09.012
DO - 10.1016/j.mad.2005.09.012
M3 - Article
C2 - 16274727
AN - SCOPUS:31544447731
VL - 127
SP - 208
EP - 212
JO - Mechanisms of Ageing and Development
JF - Mechanisms of Ageing and Development
SN - 0047-6374
IS - 2
ER -