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[Leber "plus" disease: optic neuropathy, parkinsonian syndrome and supranuclear ophthalmoplegia].

作者信息

Thobois S, Vighetto A, Grochowicki M, Godinot C, Broussolle E, Aimard G

机构信息

Services de Neurologie, Hôpital neurologique, Lyon.

出版信息

Rev Neurol (Paris). 1997 Oct;153(10):595-8.

PMID:9684025
Abstract

A 34-year-old right handed man presented with a bilateral subacute optical neuropathy associated with cervical dystonia, parkinsonism and supranuclear ophtalmoplegia. Magnetic resonance imaging showed in T2 increased intensity of signal in the dorsal mesencephalum and pons as well as in dorsal part of striata. The 3,460 mutation of mitochondrial DNA was found in a blood sample. This observation adds to the variability of presentation of Leber's "plus".

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