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Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family
Author(s) -
Moretti Paolo,
Hedera Peter,
Wald John,
Fink John
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20228
Subject(s) - dystonia , sibling , consanguinity , family history , pediatrics , medicine , genetics , mutation , consanguineous marriage , disease , gene , psychology , biology , psychiatry , developmental psychology
We describe the clinical features of a brother and sister with non–dopa‐responsive, childhood‐onset, generalized dystonia. The children were born to consanguineous parents, had no family history of neurologic disease, no evidence of structural or metabolic causes of dystonia, and negative testing for the GAG946 deletion mutation in the DYT1 gene. This report supports the existence of a generalized type of dystonia with autosomal recessive inheritance (DYT2). © 2004 Movement Disorder Society