Article: Friedreich's ataxia.
1975 Volume 68, Issue 6, Page(s) 757–763
Abstract: The clinical and pathologic findings in Friedreich's ataxia were discussed and recent literature was reviewed with respect to associated heart disease, diabetes mellitus, peripheral nerve involvement, and EEG changes. Recent research aimed toward ... ...
Abstract | The clinical and pathologic findings in Friedreich's ataxia were discussed and recent literature was reviewed with respect to associated heart disease, diabetes mellitus, peripheral nerve involvement, and EEG changes. Recent research aimed toward discovering an enzyme defect or defects was reviewed and, when available, our conclusions were stated. Friedreich's ataxia remains an unexplained spinocerebellar degeneration occurring in early life, inherited in a predominantly autosomal recessive fashion, and associated with cardiac dysfunction, diabetes mellitus, and peripheral sensory nerve involvement. |
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MeSH term(s) | Amino Acids/analysis ; Autopsy ; Carbohydrate Metabolism ; Carbohydrates/analysis ; Diabetes Complications ; Electroencephalography ; Enzymes/analysis ; Friedreich Ataxia/complications ; Friedreich Ataxia/diagnosis ; Friedreich Ataxia/etiology ; Heart Diseases/complications ; Humans ; Hydrolases/analysis ; Lipids/analysis ; Metabolism, Inborn Errors ; Myocardium/analysis ; Peripheral Nervous System Diseases/complications ; Spinal Cord/analysis |
Chemical Substances | Amino Acids ; Carbohydrates ; Enzymes ; Lipids ; Hydrolases (EC 3.-) |
Language | English |
Publishing date | 1975-06 |
Publishing country | United States |
Document type | Journal Article ; Review |
ZDB-ID | 185329-6 |
ISSN | 1541-8243 ; 0038-4348 |
ISSN (online) | 1541-8243 |
ISSN | 0038-4348 |
DOI | 10.1097/00007611-197506000-00026 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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