[Intermediate forms of heredoataxic diseases. Case of cerebellar ataxia associated with neurogenic amyotrophy].
The Authors, referring to a clinical case, make a revision of the so-called atypic or intermediate forms of the heredo-atazies diseases and try to resolve the problem of their nosology, underlining the fact that these clinical forms tend to reveal themselves as different phenotypes, starting from a basic genotypes.
D000293:Adolescent; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D004931:Esophageal Achalasia / Q000150:complications; D005071:Evoked Potentials; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009132:Muscles / Q000503:physiopathology; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
Le forme intermedie delle malattie eredoatassiche. Su un caso di atassia cerebellare associato ad amiotrofia neurogena distale.