Document Detail

Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.
MedLine Citation:
PMID:  1866007     Owner:  NLM     Status:  MEDLINE    
Three siblings of a family affected with Leber's hereditary optic neuropathy (LHON) showed a mitochondrial DNA mutation at position 11778. The lactate response to a standardized effort was increased in only one case. Muscle biopsies and biochemistry of muscle and platelet mitochondrial enzymes were normal. All patients showed an altered energy metabolism during exercise and during recovery after exercise on phosphorus 31-magnetic resonance spectroscopy (31P-MRS) of muscle. Brain 31P-MRS showed a decreased energy reserve (decreased PCr/Pi ratio) in all patients. 31P-MRS noninvasively demonstrated an altered mitochondrial energy metabolism in muscle and, for the first time, in the brains of LHON patients.
P Cortelli; P Montagna; P Avoni; S Sangiorgi; N Bresolin; M Moggio; P Zaniol; V Mantovani; P Barboni; B Barbiroli
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  41     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1991 Aug 
Date Detail:
Created Date:  1991-09-06     Completed Date:  1991-09-06     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1211-5     Citation Subset:  AIM; IM    
Neurological Institute, University of Bologna, Italy.
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MeSH Terms
Adenosine Triphosphate / metabolism
Brain / metabolism
DNA, Mitochondrial / genetics
Energy Metabolism
Magnetic Resonance Imaging
Muscles / metabolism,  pathology
Optic Atrophies, Hereditary* / diagnosis,  genetics,  metabolism
Phosphocreatine / metabolism
Phosphorus / diagnostic use
Reg. No./Substance:
0/DNA, Mitochondrial; 56-65-5/Adenosine Triphosphate; 67-07-2/Phosphocreatine; 7723-14-0/Phosphorus

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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