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A Case of Huntingtons Disease with No Family History and with No takers for Genetic tests in Family- A Case Report

KATTULA DHEERAJ BABURAO

Abstract


 This case report describes family of a middle aged woman diagnosed with Huntingtons
disease. The family of seven siblings and three children was educated about the illness and the
available genetic tests for screening pre-symptomatic persons. They decided not to screen any of the
relatives. The factors affecting decision making in genetic screening are discussed.


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References


1. Pringsheim T, Wiltshire K, Day L, Dykeman J, Steeves T, Jette N. The incidence and

prevalence of Huntington’s disease: a systematic review and meta-analysis. Mov. Disord. 2012

Aug;27(9):1083–91.

2. Suchowersky O. Huntington's disease: Clinical features and diagnosis. In Howard I Hurtig[ ed]

UpToDate. [2012].Available from http://www.uptodateonline.com.

3. Siesling S, Vegter-van de Vlis M, Losekoot M, Belfroid RD, Maat-Kievit JA, Kremer HP, et al.

Family history and DNA analysis in patients with suspected Huntington’s disease. J. Neurol.

Neurosurg. Psychiatr. 2000 Jul;69(1):54–9.

4. Kremer B, Goldberg P, Andrew SE, Theilmann J, Telenius H, Zeisler J, et al. A worldwide

study of the Huntington’s disease mutation. The sensitivity and specificity of measuring CAG repeats.

N. Engl. J. Med. 1994 May 19;330(20):1401–6.

5. Friedman JH, Trieschmann ME, Myers RH, Fernandez HH. Monozygotic twins discordant for

Huntington's disease after 7 years. Arch. Neurol. 2005 Jun;62(6):995–7.

6. Brinkman RR, Mezei MM, Theilmann J, Almqvist E, Hayden MR. The likelihood of being

affected with Huntington's disease by a particular age, for a specific CAG size. Am. J. Hum. Genet.

May;60(5):1202–10.

7. Almqvist EW, Bloch M, Brinkman R, Craufurd D, Hayden MR. A worldwide assessment of the

frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for

Huntington disease. Am. J. Hum. Genet. 1999 May;64(5):1293–304.

8. Nagaraja SM, Jain S, Muthane UB. Perspectives towards predictive testing in Huntington's

disease. Neurol India. 2006 Dec;54(4):359–62.


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