title: Hallervorden-Spatz disease.
abstract: We had the opportunity to study a family, five of whose members were affected by the Hallervorden-Spatz disease (three males and twin girls). The characteristics of the condition were analyzed and compared with those cases considered by other authors to be affected by the condition. Intrafamilial and interfamilial variations were analysed, and it was the latter that contributed most to the overall variation of the condition. It was clearly established from the reported cases and our family that this is an autosomal recessive condition (P greater than 0.23 +/- 0.08). It is suggested that the condition probably originated in Europe and that it is caused by an inborn error of metabolism related to neuromelanin and the dopaminergic system. The condition affects the muscular tone and voluntary movements progressively, making voluntary coordinated movements, and chewing and swallowing almost impossible, and in the last part of its development mental deterioration, emaciation, severe feeding difficulties and visual impairment are common clinical manifestations. The ages of both onset and death are distributed in a unimodal curve. The mean survival time after diagnosis was 11.18 +/- 7.8 years.
mesh_terms: D001480:Basal Ganglia Diseases / Q000235:genetics*; D002648:Child; D004200:Diseases in Twins; D005260:Female; D005808:Genes, Recessive; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D010375:Pedigree; D010858:Pigmentation