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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

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

Reyniers E E Van Bogaert P P Peeters N N Vits L L Pauly F F Fransen E E Van Regemorter N N Kooy R F RF

American journal of human genetics 19991101 5

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 prot ...[more]

PMID: 10521307

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