Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS

Neurology

Volumn 80, Issue 22, 2013, Pages 2022-2027

  Killoran, Annie ^a,b   Biglan, Kevin M ^a   Jankovic, Joseph ^c   Eberly, Shirley ^d   Kayson, Elise ^d   Oakes, David ^d   Young, Anne B ^e   Shoulson, Ira ^f  

^a UNIVERSITY OF ROCHESTER   (United States)

^b WEST VIRGINIA UNIVERSITY   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f GEORGETOWN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HUNTINGTIN;

ADULT; ALLELE; APATHY; ARTICLE; BEHAVIOR; CAG REPEAT; COGNITION; CONTROLLED STUDY; FEMALE; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MALE; MOTOR ACTIVITY; PHENOTYPE; PRIORITY JOURNAL; SUICIDAL IDEATION; UNIFIED HUNTINGTON DISEASE RATING SCALE;

ADULT; ALLELES; COGNITION; COHORT STUDIES; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; MOTOR ACTIVITY; NERVE TISSUE PROTEINS; PHENOTYPE; PROSPECTIVE STUDIES; PSYCHIATRIC STATUS RATING SCALES; RISK; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84879486035     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318294b304     Document Type: Article

References (27)

1. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-983.
2. Rubinsztein DC, Leggo J, Coles R, et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996;59:16-22.
3. Potter NT, Spector EB, Prior TW. Technical standards and guidelines for Huntington disease testing. Genet Med 2004;6:61-65.
4. 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.
5. Ha AD, Jankovic J. Exploring the correlates of intermediate CAG repeats in Huntington disease. Postgrad Med 2011;23:116-121.
6. The Huntington Study Group PHAROS Investigators. At risk for Huntington disease. The PHAROS (Prospective Huntington at risk observational study) cohort enrolled. Arch Neurol 2006;63:991-998.
7. Huntington Study Group. Unified Huntington's Disease Rating Scale: reliability and-consistency. Mov Disord 1996;11:136-142.
8. Warner JP, Barron LH, Brock DJ. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 1993;7:235-239.
9. Ha AD, Beck CA, Jankovic J. Intermediate CAG repeats in Huntington's disease: Analysis of cohort. Tremor Other Hyperkinet Mov [serial online] 2012;2. Available at: http://tremorjournal.org/article/view/64. Accessed May 22, 2012.
10. Marshall J, White K, Weaver M, et al. Specific behavioral manifestations among preclinical Huntington disease mutation carriers. Arch Neurol 2007;64:116-121.
11. Folstein S, Abbott MH, Chase GA, Jensen BA, Folstein MF. The association of affective disorder with Huntington's disease in a case series and in families. Psychol Med 1983;13:537-542.
12. Duyao M, Ambrose C, Myers R, et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 1993;4:387-392.
13. Wexler NS, Lorimer J, Porter J, et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci USA 2004;101:3498-3503.
14. van Duijn E, Reedeker N, Giltay EJ, Roos RA, van der Mast RC. Correlates of Apathy in Huntington's Disease. J Neuropsychiatry Clin Neurosci 2010;22:287-294.
15. Hubers AA, Reedeker N, Giltay EJ, Roos RA, van Duijn E, van der Mast RC. Suicidality in Huntington's disease. J Affect Disord 2012;136:550-557.
16. Krishnamoorthy A, Craufurd D. Treatment of Apathy in Huntington's Disease and Other Movement Disorders. Curr Treat Options Neurol 2011;13:508-519.
17. Duff K, Paulsen JS, Beglinger LJ, et al. Psychiatric symptoms in Huntington's disease before diagnosis: the predict-HD study. Biol Psychiatry 2007;62:1341-1346.
18. Falush D, Almqvist E, Brinkman R, et al. Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet 2001;68:373-385.
19. Quarrell OW, Rigby AS, Barron L, et al. Reduced penetrance alleles for Huntington's disease: a multicentre direct observational study. J Med Genet 2007;44:e68.
20. Semaka A, Creighton S, Warby S, Hayden MR Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. Clin Genet 2006;70:283-294.
21. Vassos E, Panas M, Kladi A, Vassilopoulos D. Effect of CAG repeat length on behavioral disorders in Huntington's disease. J Psychiatr Res 2008;42:544-549.
22. Paulsen J, Ready R, Hamilton J, Mega M, Cummings J. Neuropsychiatric aspects of Huntington's disease. J Neurol Neurosurg Psychiatry 2001;71:310-314.
23. Groen JL, de Bie RM, Foncke EM, Roos RA, Leenders KL, Tijssen MA. Late-onset Huntington disease with intermediate CAG repeats: true or false? J Neurol Neurosurg Psychiatry 2010;81:228-230.
24. Willemsen R, Levenga J, Oostra BA. CGG repeat in the FMR1 gene: size matters. Clin Genet 2011;80:214-225.
25. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004;74:805-816.
26. Sherman SL. Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? Am J Hum Genet 2000;67:11-13.
27. Moser DK, Dracup K, Doering LV. Factors differentiating dropouts from completers in a longitudinal, multicenter clinical trial. Nurs Res 2000;49:109-116. Stroke