Literature DB >> 9684025

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

S Thobois1, A Vighetto, M Grochowicki, C Godinot, E Broussolle, G Aimard.   

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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Year:  1997        PMID: 9684025

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  1 in total

1.  Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China.

Authors:  Dekang Gan; Mengwei Li; Jihong Wu; Xinghuai Sun; Guohong Tian
Journal:  J Ophthalmol       Date:  2017-12-04       Impact factor: 1.909

  1 in total

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