[Juvenile hereditary chorea. Study of a family with recessive pattern of transmission].
Report of a family in which the parents are consanguineous and healthy and 4 of their 8 children began with involuntary choreic movements at ages 10 to 14. In all cases the clinical manifestations remained stable throughout the 5-year period of observation. There have been no clinical deterioration and intellectual functions were found to be intact. All patients were submitted to neurologic examination, neuropsychological testing, CT-scan, cerebrospinal fluid analysis, electroencephalogram, serum copper and ceruloplasmin among other blood tests. These cases were diagnosed as having "juvenile hereditary chorea" from the typical clinical manifestations and after exclusion of other known causes of chorea. Relevant clinical aspects and possible differential diagnosis are discussed along with some advancing hypothesis concerning its relationship with other hereditary diseases presenting with chorea.
Forti
F
F
Hospital do Servidor Público Municipal de São Paulo (HSPMSP), Brasil.
Limongi
J C
JC
D000293:Adolescent; D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D010375:Pedigree
Coréia hereditária juvenil. Estudo de uma família com padrão recessivo de transmissão.