PT - JOURNAL ARTICLE AU - A Sánchez AU - M Milà AU - S Castellví-Bel AU - M Rosich AU - D Jiménez AU - C Badenas AU - X Estivill TI - Maternal transmission in sporadic Huntington's disease. AID - 10.1136/jnnp.62.5.535 DP - 1997 May 01 TA - Journal of Neurology, Neurosurgery & Psychiatry PG - 535--537 VI - 62 IP - 5 4099 - http://jnnp.bmj.com/content/62/5/535.short 4100 - http://jnnp.bmj.com/content/62/5/535.full SO - J Neurol Neurosurg Psychiatry1997 May 01; 62 AB - Huntington's disease is an autosomal dominant neurodegenerative disorder caused by the expansion of a (CAG)n repeat in the IT15 gene. Three per cent of cases are sporadic and in those in which family studies have been performed, the origin of the mutation was always paternal. The first sporadic case of Huntington's disease is presented in which a premutated maternal allele of 37 CAG repeats was transmitted expanded to the proband (43 CAG repeats). Molecular analysis of the IT15 gene is extremely important in sporadic cases of Huntington's disease, providing correct diagnosis of the disorder and facilitating genetic counselling to the family members.