Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias.
Neurology. 2002-11-12; 59(9): 1330-1336
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1. Neurology. 2002 Nov 12;59(9):1330-6.
Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar
Goizet C(1), Lesca G, Dürr A; French Group for Presymptomatic Testing in
(1)Service de Génétique Médicale, Hôpital Pellegrin-Enfants, Bordeaux, France.
OBJECTIVE: To report a 7-year experience of presymptomatic testing in persons at
risk for Huntington disease (HD) and to compare their characteristics and
outcomes with those of persons at risk for a less disabling condition, autosomal
dominant cerebellar ataxias (ADCA).
METHODS: The authors collected data on presymptomatic testing for HD (n = 712)
and ADCA (n = 46) in 10 French centers.
RESULTS: The characteristics of applicants were similar in HD and ADCA, revealing
a predominance of women, a low rate of completing the presymptomatic testing
program, and a high rate of follow-up. The frequency of serious events was low
(2% for HD, 5% for ADCA), but such events were also found after favorable
results. Family planning was a more frequent reason for seeking presymptomatic
testing in ADCA than in HD. Prenatal diagnosis was performed in only half of the
pregnancies in HD carriers (n = 35) but in all of those in ADCA carriers (n = 4).
CONCLUSION: Counseling in multistep and multidisciplinary teams is important not
only for presymptomatic testing in HD but also for less disabling diseases.
PMID: 12427879 [Indexed for MEDLINE]