The influence of gender on phenotype and disease progression in patients with Huntington's disease

Parkinsonism and Related Disorders

Volumn 19, Issue 2, 2013, Pages 192-197

  Zielonka, Daniel ^a   Marinus, Johan ^b   Roos, Raymund A C ^b   De Michele, Giuseppe ^c   Di Donato, Stefano ^d   Putter, Hein ^b   Marcinkowski, Jerzy ^a   Squitieri, Ferdinando ^e   Bentivoglio, Anna Rita ^f   Landwehrmeyer, G Bernhard ^g  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e IRCCS NEUROMED   (Italy)

^f CATHOLIC UNIVERSITY   (Italy)

^g UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

CAG repeats; Gender; Huntington's disease; Progression; UHDRS

Indexed keywords

ADULT; ALCOHOL ABUSE; ARTICLE; CROSS-SECTIONAL STUDY; DEPRESSION; DISEASE DURATION; DISEASE EXACERBATION; DISEASE SEVERITY; EDUCATIONAL STATUS; FEMALE; FUNCTIONAL ASSESSMENT; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MALE; MOTOR PERFORMANCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENCE; SMOKING HABIT;

CROSS-SECTIONAL STUDIES; DISEASE PROGRESSION; FEMALE; GENDER IDENTITY; HUMANS; HUNTINGTON DISEASE; MALE; PHENOTYPE; SEX CHARACTERISTICS;

EID: 84873738051     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2012.09.012     Document Type: Article

References (35)

1. Walker F.O. Huntington's disease. Lancet 2007, 369:218-228.
2. Langbehn D.R., Brinkman R.R., Falush D., Paulsen J.S., Hayden M.R., International Huntington's Disease Collaborative Group A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet 2004, 65:267-277.
3. Rosenblatt A., Liang K.Y., Zhou H., Abbott M.H., Gourley L.M., Margolis R.L., et al. The association of CAG repeat length with clinical progression in Huntington disease. Neurology 2006, 66:1016-1020.
4. Ravina B., Romer M., Constantinescu R., Biglan K., Brocht A., Kieburtz K., et al. The relationship between CAG repeat length and clinical progression in Huntington's disease. Mov Disord 2008, 23:1223-1227.
5. Zielonka D., Niezgoda A., Olejniczak M., Krzyzosiak W., Marcinkowski J., Kozubski W. Gender differences in the CAG repeats and clinical picture correlations in Huntington's disease. Ceska a Slovenska Neurologie a Neurochirurgie 2008, 71/104:688-694.
6. Dorner J.L., Miller B.R., Barton S.J., Brock T.J., Rebec G.V. Sex differences in behavior and striatal ascorbate release in the 140 CAG knock-in mouse model of Huntington's disease. Behav Brain Res 2007, 178:90-97.
7. Handley O., van Walsem M., Juni P., Bachoud-Levi A.C., Bentivoglio A.R., Bonelli R.M., et al. Study protocol of registry - version 2.0-European Huntington's disease network (EHDN). Hygeia Public Health 2011, 46:115-182.
8. Shoulson I., Fahn S. Huntington disease: clinical care and evaluation. Neurology 1979, 29:1-3.
9. Siesling S., van Vugt J.P., Zwinderman K.A., Kieburtz K., Roos R.A. Unified Huntington's disease rating scale: a follow up. Mov Disord 1998, 13:915-919.
10. Penney J.B., Vonsattel J.P., MacDonald M.E., Gusella J.F., Myers R.H. CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol 1997, 41:689-692.
11. Tabachnick B.G., Fidell L.S. Analysis of covariance. Using multivariate statistics 2007, Pearson Education Inc, Boston, 195-242. 4th ed.
12. Squitieri F., Frati L., Ciarmiello A., Lastoria S., Quarrell O. Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?. Mech Ageing Dev 2006, 127:208-212.
13. Snell R.G., MacMillan J.C., Cheadle J.P., Fenton I., Lazarou L.P., Davies P., et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 1993, 4:393-397.
14. Wieliński C., Parashos S., Erickson-Davis C., Wechmann R., Lenarz S. Gait and balance initiative (GABI): gender differences in risk and frequency of falls. Parkinsonism Relat Disord 2010, (Suppl. 1):S36.
15. Zappacosta B., Monza D., Meoni C., Austoni L., Soliveri P., Gellera C., et al. Psychiatric symptoms do not correlate with cognitive decline, motor symptoms, or CAG repeat length in Huntington's disease. Arch Neurol 1996, 53:493-497.
16. Vassos E., Panas M., Kladi A., Vassilopoulos D. Effect of CAG repeat length on psychiatric disorders in Huntington's disease. J Psychiatr Res 2008, 42:544-549.
17. Mayeux R., Stern Y., Herman A., Greenbaum L., Fahn S. Correlates of early disability in Huntington's disease. Ann Neurol 1986, 20:727-731.
18. Papapetropoulos S., Ellul J., Argyriou A.A., Chroni E., Lekka N.P. The effect of depression on motor function and disease severity of Parkinson's disease. Clin Neurol Neurosurg 2006, 108:465-469.
19. Aziz N.A., Anguelova G.V., Marinus J., Lammers G.J., Roos R.A. Sleep and circadian rhythm alterations correlate with depression and cognitive impairment in Huntington's disease. Parkinsonism Relat Disord 2010, 16:345-350.
20. Wittchen H.U., Jacobi F., Rehm J., Gustavsson A., Svensson M., Jönsson B., et al. The size and burden of mental disorders and other disorders of the brain in Europe 2010. Eur Neuropsychopharmacol 2011, 21:655-679.
21. Kessler R.C., McGonagle K.A., Swartz M., Blazer D.G., Nelson C.B. Sex and depression in the National Comorbidity Survey. I. Lifetime prevalence, chronicity and recurrence. J Affect Disord 1993, 29:85-96.
22. Paulsen J.S., Nehl C., Hoth K.F., Kanz J.E., Benjamin M., Conybeare R., et al. Depression and stages of Huntington's disease. J Neuropsychiatry Clin Neurosci 2005, 17:496-502.
23. Andresen J.M., Gayán J., Cherny S.S., Brocklebank D., Alkorta-Aranburu G., Addis E.A., 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.
24. Karadima G., Dimovasili C., Koutsis G., Vassilopoulos D., Panas M. Age at onset in Huntington's disease: replication study on the association of HAP1. Parkinsonism Relat Disord 2012 Jun 12, [Epub ahead of print].
25. Wexler N.S., Lorimer J., Porter J., Gomez F., Moskowitz C., Shackell E., et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci U S A 2004, 101:3498-3503.
26. Gayán J., Brocklebank D., Andresen J.M., Alkorta-Aranburu G., Cader M.Z., Roberts S.A., et al. Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds. Genet Epidemiol 2008, 32:445-453.
27. Arning L., Saft C., Wieczorek S., Andrich J., Kraus P.H., Epplen J.T. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. Hum Genet 2007, 122:175-182.
28. Kehoe P., Krawczak M., Harper P.S., Owen M.J., Jones A.L. Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J Med Genet 1999, 36:108-111.
29. Cardoso F., Vargas A.P., Oliveira L.D., Guerra A.A., Amaral S.V. Persistent Sydenham's chorea. Mov Disord 1999, 14:805-807.
30. Palacios N., Weisskopf M., Simon K., Gao X., Schwarzschild M., Ascherio A. Polymorphisms of caffeine metabolism and estrogen receptor genes and risk of Parkinson's disease in men and women. Parkinsonism Relat Disord 2010, 16:370-375.
31. Markianos M., Panas M., Kalfakis N., Vassilopoulos D. Plasma testosterone in male patients with Huntington's disease: relations to severity of illness and dementia. Ann Neurol 2005, 57(4):520-525.
32. Markianos M., Panas M., Kalfakis N., Vassilopoulos D. Plasma testosterone, dehydroepiandrosterone sulfate, and cortisol in female patients with Huntington's disease. Neuroendocrinol Lett 2007, 28(2):199-203.
33. Myers R.H., Sax D.S., Koroshetz W.J., Mastromauro C., Cupples L.A., Kiely D.K., et al. Factors associated with slow progression in Huntington's disease. Arch Neurol 1991, 48:800-804.
34. Bode F.J., Stephan M., Suhling H., Pabst R., Straub R.H., Raber K.A., et al. Sex differences in a transgenic rat model of Huntington's disease: decreased 17b-estradiol levels correlate with reduced numbers of DARPP321 neurons in males. Hum Mol Genet 2008, 17:2597-2609.
35. Wood N.I., Carta V., Milde S., Skillings E.A., McAllister C.J., Ang Y.L., et al. Responses to environmental enrichment differ with sex and genotype in a transgenic mouse model of Huntington's disease. PLoS One 2010, 5(2):e9077.