A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.
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.
Reyniers
E
E
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Van Bogaert
P
P
Peeters
N
N
Vits
L
L
Pauly
F
F
Fransen
E
E
Van Regemorter
N
N
Kooy
R F
RF
D001264:Athetosis / Q000235:genetics; D002648:Child; D002874:Chromosome Mapping; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008126:Lod Score; D008189:Luxembourg; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D018895:Microsatellite Repeats; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*