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Investigation of the potential role of genetic imprinting in Gilles de la Tourette syndrome

✍ Scribed by Furtado, Sarah ;Suchowersky, Oksana

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 400 KB
Volume: 51
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320510112

No coin nor oath required. For personal study only.

✦ Synopsis

Genetic imprinting refers to the phenomenon whereby the precise expression of a specific trait (or disease) may depend on the sex of the transmitting parent. The purpose of the present project was to investigate the possibility for the involvement of genetic imprinting in Tourette syndrome (TS), a disease of the central nervous system in which many cases show evidence of an autosomal dominant mode of inheritance. The justification for the study arose from the noted variable expression of the associated symptoms in TS.

Through the method of chart review, information regarding sex of the transmitting parent, age of onset of motor tics, as well as associated symptoms, was gathered from patients with a clear family history of TS consistent with autosomal dominant mode of transmission. No evidence was found for genetic imprinting in TS. The potential criticisms and implications of this finding are discussed. @

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