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Complicated optic atrophy (Bher's disease) associated with epilepsy and amino acid imbalance.

Abstract
A case of Behr's disease (complicated optic atrophy) associated with epilepsy and with imbalance of the free amino acid pool in plasma and cerebrospinal fluid, quite similar to that identified in patients with hereditary ataxias, is reported. The latter finding stands for a closer correlation between the two clinical entities.
AuthorsF Monaco, A Pirisi, G P Sechi, R Mutani
JournalEuropean neurology (Eur Neurol) Vol. 18 Issue 2 Pg. 101-5 ( 1979) ISSN: 0014-3022 [Print] Switzerland
PMID456388 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Amino Acids
Topics
  • Adult
  • Amino Acids (blood, cerebrospinal fluid, metabolism)
  • Ataxia (genetics)
  • Epilepsy (complications, genetics, metabolism)
  • Female
  • Humans
  • In Vitro Techniques
  • Male
  • Metabolic Diseases (complications)
  • Optic Atrophy (complications, genetics, metabolism)
  • Syndrome

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