A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

ABSTRACT: Choreoathetosis is a major clinical feature in only a small number of hereditary neurological disorders. We define a new X-linked syndrome with a unique clinical picture characterized by mild mental retardation, choreoathetosis, and abnormal behavior. We mapped the disease in a four-generation pedigree to chromosome Xp11 by linkage analysis and defined a candidate region containing a number of genes possibly involved in neuronal signaling, including a potassium channel gene and a neuronal G protein-coupled receptor.

SUBMITTER: Reyniers E 

PROVIDER: S-EPMC1288294 | biostudies-literature | 1999 Nov

REPOSITORIES: biostudies-literature