Chronic leigh disease: A genetic and biochemical study
- 1 April 1980
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 7 (4), 304-310
- https://doi.org/10.1002/ana.410070404
Abstract
The large family of a 21‐year‐old man who died of Leigh disease was investigated for evidence of neurological abnormalities and presence of the adenosine triphosphate‐thiamine diphosphate phosphoryltransferase inhibitor factor. Of 217 persons (seven generations) included in the pedigree, 68 were examined neurologically and biochemically. Fourteen (20%), 5 of whom had abnormal neurological findings, were found to excrete the inhibitor factor. Clinical manifestations varied from severe neurological affliction to subtle deficits. A chronic relapsing course was frequently encountered, with exacerbations occurring in association with apparent metabolic stress. Parental consanguinity was identified in the propositus as well as in other family members with neurological abnormalities. Males and females were affected, and no vertical transmission of the trait was found. These multigenerational data suggest that Leigh disease in adults is inherited in an autosomal recessive manner and has variable degrees of expression with a wide spectrum of neurological manifestations.Keywords
This publication has 21 references indexed in Scilit:
- Leigh's disease in an adult with evidence of “inhibitor factor” in family membersAnnals of Neurology, 1978
- Specificity of the urine inhibitor test for Leigh's diseaseNeurology, 1974
- Leigh's syndromeNeurology, 1973
- Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and EtiologyDevelopmental Medicine and Child Neurology, 1972
- SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY: A REVIEW AND A STUDY OF TWO FAMILIESBrain, 1971
- Thiamine Triphosphate Deficiency in Subacute Necrotizing EncephalomyelopathyScience, 1969
- Leigh's subacute necrotizing encephalopathy: clinical and biochemical study, with special reference to therapy with lipoate.Archives of Disease in Childhood, 1967
- ALVEOLAR HYPOVENTILATION WITH NORMAL LUNGS: THE SYNDROME OF PRIMARY OR CENTRAL ALVEOLAR HYPOVENTILATION *Annals of the New York Academy of Sciences, 1965
- A disease in infants resembling chronic Wernicke's encephalopathyThe Journal of Pediatrics, 1954
- SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANTJournal of Neurology, Neurosurgery & Psychiatry, 1951