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Predictors of Survival in a Huntington's Disease Population from Southern Italy

Published online by Cambridge University Press:  02 December 2014

Carlo Rinaldi ,
Elena Salvatore ,
Ilaria Giordano ,
Sara De Matteis ,
Tecla Tucci ,
Valeria Russo Cinzia ,
Fabiana Rossi ,
Imma Castaldo ,
Vincenzo Brescia Morra  and
Luigi Di Maio
...Show all authors
Carlo Rinaldi*
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
Elena Salvatore
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
Ilaria Giordano
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
Sara De Matteis
Affiliation:
Department of Occupational and Environmental Health, Università degli Studi di Milano
Tecla Tucci
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
Valeria Russo Cinzia
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
Fabiana Rossi
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
Imma Castaldo
Affiliation:
Department of Cellular and Molecular Biology, IEOS CNR, Università Federico II, Naples
Vincenzo Brescia Morra
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
Luigi Di Maio
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
Alessandro Filla
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
Giuseppe De Michele
Affiliation:
Department of Neurological Sciences, IEOS CNR, Università Federico II, Naples
*
Department of Neurological Sciences, University of Federico II, Via Pansini, 5, 80121 – Napoli, Italy. Email: [email protected]
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Abstract

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Background:

The primary aim of the present study was to determine the survival rates and identify predictors of disease duration in a cohort of Huntington's disease (HD) patients from Southern Italy.

Methods:

All medical records of HD patients followed between 1977 and 2008 at the Department of Neurological Sciences of Federico II University in Naples were retrospectively reviewed and 135 patients were enrolled in the analysis. At the time of data collection, 41 patients were deceased (19 males and 22 females) with a mean ± SD age at death of 56.6 ± 14.9 years (range 18-83).

Results:

The median survival time was 20 years (95% CI: 18.3-21.7). Cox regression analysis showed that the number of CAG in the expanded allele (HR 1.09 for 1 point triplet increase, p=0.002) and age of onset (HR 1.05 for 1 point year increase, p=0.022) were independent and significant predictors of lower survival rates.

Conclusions:

We believe that these findings are important for a better understanding of the natural history of the disease and may be relevant in designing future therapeutic trials.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 39 , Issue 1 , January 2012 , pp. 48 - 51
Copyright
Copyright © The Canadian Journal of Neurological 2012

References

1The Huntington’s Disease Coll Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993;72:971–83.CrossRefGoogle Scholar
2Harper, B.Huntington disease. J R Soc Med. 2005;98:550.CrossRefGoogle ScholarPubMed
3Langbehn, DR, Brinkman, RR, Falush, D, Paulsen, JS, Hayden, MR.Anew model for prediction of the age at onset and penetrance for Huntington’s disease based on CAG length. Clin Genet. 2004; 65:267–77.CrossRefGoogle Scholar
4Ravina, B, Romer, M, Constantinescu, R, et al.The relationship between CAG repeat length and clinical progression in Huntington’s disease. Mov Disord. 2008;23:1223–7.CrossRefGoogle ScholarPubMed
5Aziz, NA, van der Burg, JM, Landwehrmeyer, GB, et al.Weight loss in Huntington disease increases with higher CAG repeat number. Neurology. 2008;71:1506–13.CrossRefGoogle ScholarPubMed
6Rosenblatt, A, Liang, KY, Zhou, H, et al.The association of CAG repeat length with clinical progression in Huntington disease. Neurology. 2006;66:1016–20.CrossRefGoogle ScholarPubMed
7Aziz, NA, Jurgens, CK, Landwehrmeyer, GB, et al.Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Neurology. 2009;73:1280–5.CrossRefGoogle ScholarPubMed
8Paulsen, JS, Nehl, C, Hoth, KF, et al.Depression and stages of Huntington’s disease. J Neuropsychiatry Clin Neurosci. 2005; 17:496–502.CrossRefGoogle ScholarPubMed
9Marshall, J, White, K, Weaver, M, et al.Specific psychiatric manifestations among preclinical Huntington disease mutation carriers. Arch Neurol. 2007;64:116–21.CrossRefGoogle ScholarPubMed
10Andrew, SE, Goldberg, YP, Theilmann, J, Zeisler, J, Hayden, MR.A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet. 1994;3:65–7.CrossRefGoogle Scholar
11Tabrizi, SJ, Langbehn, DR, Leavitt, BR, et al.Biological and clinical manifestations of Huntington’s disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol. 2009;8:791–801.CrossRefGoogle ScholarPubMed
12Paulsen, JS, Langbehn, DR, Stout, JC, et al.Detection of Huntington’s disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry. 2008;79:874–80.CrossRefGoogle ScholarPubMed
13Sorensen, SA, Fenger, K.Causes of death in patients with Huntington’s disease and in unaffected first degree relatives. J Med Genet. 1992;29:911–4.CrossRefGoogle ScholarPubMed
14Schoenfeld, M, Myers, RH, Cupples, LA, et al.Increased rate of suicide among patients with Huntington’s disease. J Neurol Neurosurg Psychiatry. 1984;47:1283–7.CrossRefGoogle ScholarPubMed
15Farrer, LA.Suicide and attempted suicide in Huntington disease: implications for preclinical testing and persons at-risk. Am J Med Genet. 1986;24:305–11.CrossRefGoogle ScholarPubMed
16Pekmezovic, T, Svetel, M, Maric, J, et al.Survival of Huntington’s disease patients in Serbia: longer survival in female patients. Eur J Epidemiol. 2007;22:523–6.CrossRefGoogle ScholarPubMed
17Roos, RA, Hermans, J, Vegter-van der Vlis, M, van Ommen, GJ, Bruyn, GW.Duration of illness in Huntington’s disease is not related to age at onset. J Neurol Neurosurg Psychiatry. 1993;56: 98–100.CrossRefGoogle Scholar
18Foroud, T, Gray, J, Ivashina, J, Conneally, PM.Differences in duration of Huntington’s disease based on age at onset. J Neurol Neurosurg Psychiatry. 1999;66:52–6.CrossRefGoogle ScholarPubMed
19Myers, RH, Madden, JH, Teague, JL, Falek, A.Factors related to onset age in Huntington’s disease. Am J Hum Genet. 1982;34: 481–8.Google Scholar
20Newcombe, RG, Walker, DA, Harper, PS.Factors influencing age at onset and duration of survival in Huntington’s chorea. Ann Hum Genet. 1981;45:387–96.CrossRefGoogle ScholarPubMed
21Roos, RAC, Hermans, J, Vegter-van der Vlis, M, et al.Duration of illness in Huntington’s disease is not related to age at onset. J Neurol Neurosurg Psychiatry. 1993;56:9.CrossRefGoogle Scholar