Literature DB >> 3736869

Leber's disease and dystonia: a mitochondrial disease.

E J Novotny, G Singh, D C Wallace, L J Dorfman, A Louis, R L Sogg, L Steinman.   

Abstract

We studied a kindred in which 8 members had the neuroretinopathy of Leber's disease; 14 had a progressive, generalized dystonia attributed to striatal degeneration; and 1 had both disorders. The mode of inheritance was compatible with maternal transmission. This neurologic disorder may be a mitochondrial disease.

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Mesh：

Year:  1986        PMID： 3736869     DOI： 10.1212/wnl.36.8.1053

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  32 in total

1.  Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

Authors:  V Leuzzi; E Bertini; A M De Negri; M Gallucci; B Garavaglia
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-01       Impact factor: 10.154

2.  Mitochondria and dystonia: the movement disorder connection?

Authors:  D C Wallace; D G Murdock
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

3.  Histochemical, ultrastructural and biochemical study of muscle mitochondria in Leber's hereditary optic atrophy.

Authors:  A Federico; L Manneschi; M Meloni; C Alessandrini; A M Bardelli; M T Dotti; P Sabatelli
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.

Authors:  J D Chen; I Cox; M J Denton
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132

5.  Cerebellar ataxia in patients with Leber's hereditary optic neuropathy.

Authors:  I Funakawa; H Kato; A Terao; K Ichihashi; S Kawashima; T Hayashi; K Mitani; S Miyazaki
Journal:  J Neurol       Date:  1995-01       Impact factor: 4.849

6.  A novel class of tests for the detection of mitochondrial DNA-mutation involvement in diseases.

Authors:  Fengzhu Sun; Jing Cui; Haralambos Gavras; Faina Schwartz
Journal:  Am J Hum Genet       Date:  2003-04-30       Impact factor: 11.025

7.  Metabonomic characterization of the 3-nitropropionic acid rat model of Huntington's disease.

Authors:  T M Tsang; J N Haselden; E Holmes
Journal:  Neurochem Res       Date:  2009-01-16       Impact factor: 3.996

8.  Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

Authors:  D D De Vries; L N Went; G W Bruyn; H R Scholte; R M Hofstra; P A Bolhuis; B A van Oost
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

9.  Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.

Authors:  B A Kormann; H Schuster; T A Berninger; B Leo-Kottler
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

Review 10.  Mitochondrial DNA sequence variation in human evolution and disease.

Authors:  D C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1994-09-13       Impact factor: 11.205
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