Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases.
نویسندگان
چکیده
The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.
منابع مشابه
Cardiac abnormalities in patients with Leber's hereditary optic neuropathy.
Leber’s hereditary optic neuropathy (LHON) is characterised by acute or subacute central visual loss that typically occurs in early adult life. Three mitochondrial DNA (mtDNA) point mutations, 3460, 11778, and 14484, account for more than 90% of all LHON cases. Cardiac involvement in LHON has been suspected ever since Leber’s original 1871 report in which some patients with the disease complain...
متن کاملVariable pattern of visual recovery of Leber's hereditary optic neuropathy.
AIMS To investigate pattern of visual recovery of nine patients with Leber's hereditary optic neuropathy (LHON) and a mitochondrial DNA mutation at 11778. METHODS Recovery was judged significant when a gain of two lines or more in the Landolt ring chart, 10 dB or more improvement of the mean deviation of static perimetry, or improvement of critical flicker frequency (CFF) over 35 Hz was shown...
متن کاملExclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy.
PURPOSE To investigate the degree of heteroplasmy of the 11778 mtDNA mutation in Chinese patients with Leber's hereditary optic neuropathy (LHON). METHODS Seventeen Chinese Leber's pedigrees, including 24 patients, 17 unaffected maternal lineages, 4 internal controls, and 6 unrelated controls, were screened for the 11778 mtDNA mutation. This was carried out by analysis of the restriction frag...
متن کاملCompensatory elevation of complex II activity in Leber's hereditary optic neuropathy.
AIMS To evaluate the mitochondrial respiratory enzyme activities in blood cells of Leber's hereditary optic neuropathy (LHON) with 11778 point mutation of mitochondrial DNA. METHODS Assays for the activities of NADH-cytochrome c reductase (complex I+complex III), succinate-cytochrome c reductase (complex II+complex III), and cytochrome c oxidase (complex IV) on blood cell mitochondria of seve...
متن کاملLeber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients.
PURPOSE To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON), optic atrophy of unknown etiology, and optic neuropathy of known etiology. METHODS Twenty-seven patients from 25 LHON pedigrees, 22 patients with bilateral optic atrophy of unknown etiology, 21 patients with optic neuropathy of known etiology, and 25 ...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 71 6 شماره
صفحات -
تاریخ انتشار 2001