De novo huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype

Neurology

Volumn 81, Issue 12, 2013, Pages 1099-1100

  Houge, Gunnar ^a   Bruland, Ove ^a   Bjørnevoll, Inga ^b   Hayden, Michael R ^c,d   Semaka, Alicia ^c,d  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^c Centre for Molecular Medicine and Therapeutics   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

POLYGLUTAMINE;

ADULT; ALLELE; ASTHENIA; CAG REPEAT; CASE REPORT; CLINICAL FEATURE; DEMENTIA; FEMALE; FOLLOW UP; HAPLOTYPE; HUMAN; HUNTINGTON CHOREA; INVOLUNTARY MOVEMENT; NOTE; PRIORITY JOURNAL; RESTLESSNESS; SINGLE NUCLEOTIDE POLYMORPHISM; UNSTEADY GAIT;

FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; HUNTINGTON DISEASE; MIDDLE AGED; MUTATION; PEDIGREE; RISK;

EID: 84884529737     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182a4a4af     Document Type: Note

References (5)

1. Warby SC, Montpetit A, Hayden AR, et al. CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet 2009;84:351-366.
2. Semaka A, Collins JA, Hayden MR. Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles). Am J Med Genet B Neuropsychiatr Genet 2010;153B:314-320.
3. Kelly TE, Allinson P, McGlennen RC, Baker J, Bao Y. Expansion of a 27 CAG repeat allele into a symptomatic Huntington disease-producing allele. Am J Med Genet 1999;87:91-92.
4. Warby SC, Visscher H, Collins JA, et al. HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet 2011;19:561-566.
5. Maat-Kievit A, Losekoot M, Van Den Boer-Van Den Berg H, et al. New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles. J Med Genet 2001;38:E12.