Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated a family with Leber's hereditary optic neuropathy in which affected individuals were homoplasmic for the point mutation of the NADH-dehydrogenase 4 gene of mitochondrial DNA, described by Wallace and colleagues in 1988. The proband had bilateral optic atrophy, tremor, dystonia, and sharply defined lesions in the putamen on magnetic resonance images. Optic atrophy was found in another 3 of 13 investigated relatives on the maternal side. Additional neurological signs were found but only in patients with optic neuropathy. The morphological appearance and the respiratory chain function of muscle tissue were investigated in the proband, his mother, and 3 siblings. Polarographic measurements revealed complex I deficiency in the 5 investigated subjects. Morphological changes of mitochondria were found in 4 of these subjects. There was no decrease in complex I activity measured as NADH ferricyanide reductase or rotenone-sensitive NADH cytochrome c reductase activities. In other cases with complex I deficiency, good agreement between polarographic and spectrophotometric measurements was found. This study showed that there is decreased activity of complex I of the respiratory chain in muscle and that cerebral striatal lesions occur in Leber's hereditary optic neuropathy with the NADH-dehydrogenase 4 gene point mutation.
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PMID:Leber's hereditary optic neuropathy and complex I deficiency in muscle. 176 94

Previous studies suggest that Leber's hereditary optic neuropathy (LHON) may be a systemic disorder with manifestations in organs other than the optic nerves. To evaluate nervous system involvement 38 men and eight women with LHON were re-examined. The patients were divided into three groups according to mtDNA analysis--namely, patients with the 11778 or with the 3460 mutation and patients without these primary mutations. Fifty nine per cent of patients had neurological abnormalities but there was no significant difference between the three groups. Movement disorders were the most common finding; nine patients had constant postural tremor, one chronic motor tic disorder, and one parkinsonism with dystonia. Four patients had peripheral neuropathy with no other evident cause. Two patients had a multiple sclerosis-like syndrome; in both patients MRI showed changes in the periventricular white matter. Thoracic kyphosis occurred in seven patients, five of whom had the 3460 mutation. In one patient the 3460 mutation was associated with involvement of the brain stem. It is suggested that various movement disorders, multiple sclerosis-like illness, and deformities of the vertebral column may associate pathogenetically with LHON.
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PMID:Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. 762 30

Fifty patients with Leber's hereditary optic neuropathy (LHON) with an associated pathogenic mutation of mitochondrial DNA (mtDNA) at base pair (bp) 11778 (35 cases), 14484 (eight cases) or 3460 (seven cases) were matched with 50 controls. The frequency of additional neurological features in LHON and the role of a number of past medical and environmental factors in the development of the disease were investigated using a case-control study. Additional neurological features were reported by 15 patients. Four patients had a multiple sclerosis-like illness; one had focal dystonia. Ten patients had tremor, which occurred at significantly higher frequency in patients than in controls. Alcohol and tobacco consumption were similar in patients with the 11778 mutation and matched controls, but were significantly increased in patients with the 3460 and 14484 mutations. No other associated past medical or environmental factors were identified.
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PMID:A case-control study of Leber's hereditary optic neuropathy. 893 73