Late-onset Huntington disease with intermediate CAG repeats: True or false?

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 2, 2010, Pages 228-230

  Groen, Justus L ^a   De Bie, Rob Ma ^a   Foncke, Elisabeth M J ^a,b   Roos, Raymund A C ^c   Leenders, Klaus L ^d   Tijssen, Marina A J ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMITRIPTYLINE; CARBIDOPA PLUS LEVODOPA; SULPIRIDE; TIAPRIDE;

AGED; ALLELE; ARTICLE; BEHAVIOR CHANGE; BRAIN SCINTISCANNING; CASE REPORT; FAMILY HISTORY; FEMALE; GENE SEQUENCE; HUMAN; HUNTINGTON CHOREA; IRRITABILITY; MALE; MEMORY DISORDER; MINI MENTAL STATE EXAMINATION; MUSCLE CONTRACTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSON DISEASE; PRIORITY JOURNAL; RESTLESSNESS; STRESS;

EID: 76549131769     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.170902     Document Type: Article

References (21)

1. Walker FO. Huntington's disease. Lancet 2007;369:218-28.
2. 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.
3. Andrich J, Arning L, Wieczorek S, et al. Huntington's disease as caused by 34 CAG repeats. Mov Disord 2008;23:879-81.
4. Herishanu YO, Parvari R, Pollack Y, et al. Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy? J Neurol Sci 2008;277:143-6.
5. Kenney C, Powell S, Jankovic J. Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord 2007;22:127-130.
6. Gonitel R, Moffitt H, Sathasivam K, et al. DNA instability in postmitotic neurons. Proc Natl Acad Sci U S A 2008;105:3467-72.
7. Wild EJ, Mudanohwo EE, Sweeney MG, et al. Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord 2008;23:716-20.
8. Semaka A, Warby S, Leavitt BR, et al. Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord 2008;23:1794-5.
9. Reynolds N. Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord 2008;23:1795-6.
10. Persichetti F, Srinidhi J, Kanaley L, et al. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains. Neurobiol Dis 1994;1:159-166.
11. Andrew SE, Goldberg YP, Kremer B, et al. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet 1994;54:852-863.
12. Xuereb JH, MacMillan JC, Snell R, et al. Neuropathological diagnosis and CAG repeat expansion in Huntington's disease. J Neurol Neurosurg Psychiatry 1996;60:78-81.
13. Kremer B, Goldberg P, Andrew SE, et al. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994;330:1401-1406.
14. Semaka A, Creighton S, Warby S, et al. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet 2006;70:283-94.
15. Rosenblatt A, Brinkman RR, Liang KY, et al. Familial influence on age of onset among siblings with Huntington disease. Am J Med Genet 2001;105:399-403.
16. Goldberg YP, McMurray CT, Zeisler J, et al. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995;4:1911-18.
17. Li JL, Hayden MR, Warby SC, et al. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. BMC Med Genet 2006;7:71.
18. Arning L, Monte D, Hansen W, et al. ASK1 and MAP2K6 as modifiers of age at onset in Huntington's disease. J Mol Med 2008;86:485-90.
19. Andresen JM, Gayan J, Cherny SS, et al. Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J Med Genet 2007;44:44-50.
20. Lloret A, Dragileva E, Teed A, et al. Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice. Hum Mol Genet 2006;15:2015- 24.
21. Kovtun IV, Liu Y, Bjoras M, et al. OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 2007;447:447-52.