EXPERIENCE WITH THE PRESYMPTOMATIC DIAGNO SIS OF HUNTINGTONS-DISEASE

Authors
LUCOTTE G AOUIZERATE A GERARD N MERCIER G TURPIN JC
Citation
G. Lucotte et al., EXPERIENCE WITH THE PRESYMPTOMATIC DIAGNO SIS OF HUNTINGTONS-DISEASE, La Semaine des hopitaux de Paris, 73(15-16), 1997, pp. 504-508
Citations number
10
Categorie Soggetti
Medicine, General & Internal
Journal title
La Semaine des hopitaux de Paris → ACNP
ISSN journal
00371777
Volume
73
Issue
15-16
Year of publication
1997
Pages
504 - 508
Database
ISI
SICI code
0037-1777(1997)73:15-16<504:EWTPDS>2.0.ZU;2-L
Abstract
Among the members of one hundred nine different families affected with Huntington's disease (HD), 545 underwent studies of DNA from blood sa mples. Measurement of the number of triplet (CAG)n repeats was done in 107 symptomatic patients to confirm the diagnosis; Two hundred eighty -four patients at primary or secondary risk for HD were also studied, and 50 (17.6%) were given the results of the presymptomatic diagnosis; among these 50 patients, 21 (42%) had 39 or more CAG repeats in one a llele, and most of these 18 requested a prediction of the age at onset of the disease.