[A case of Leber's hereditary optical atrophy in a family with evident signs of hereditary degenerative neuropathy]

Arch Sci Med (Torino). 1969 Jul;126(7):470-4.
[Article in Italian]

Abstract

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.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Adolescent
  • Humans
  • Male
  • Optic Atrophy, Hereditary, Leber / diagnosis
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Pedigree