Familial cerebellar ataxia with hypogonadism.
A brother and sister with congenital cerebellar ataxia, anosmia, oligophrenia, hypogonadism and anomalies of amino acid distribution are reported. Ties between the different symptoms are difficult to establish. It seems to be a new syndrome rather than a new disease. Once more these associations emphasize the need for metabolic and biochemical research in heredodegenerative diseases. The evolution of the disease in these cases might make it possible to classify and locate it more accurately.
D000328:Adult; D000596:Amino Acids / Q000032:analysis; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D000857:Olfaction Disorders / Q000150:complications / Q000235:genetics
D000596:Amino Acids