[A case of Leber's hereditary optical atrophy in a family with evident signs of hereditary degenerative neuropathy].
Reference is made to a case of Leber's disease in a patient with other slight neurological signs of the type encountered in hereditary ataxias. The importance of the case lies in the following points: (a) very early onset (this is a rare finding: 2.5% of cases, according to Ronne); (b) the presence of nervous abnormalities of the Charcot-Marie-Tooth amyotrophy type and of hereditary spinal of cerebellar ataxia in some of the 35 members of the patient's family, with or without optical atrophy; (c) the prevalence of the disease, though not to the total exclusion of females, suggesting a primarily diagynic multifactorial form of transmission. The main features of the case are compared with those reported in the literature.
Brignolio
F
F
Clinica delle Malattie Nervose e Mentali dell'Universit& di Torino.
Cognazzo
A
A
Artaz
C
C
D000293:Adolescent; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree