Literature DB >> 7707093

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

I Funakawa1, H Kato, A Terao, K Ichihashi, S Kawashima, T Hayashi, K Mitani, S Miyazaki.   

Abstract

We report the cases of a mother and son with Leber's hereditary optic neuropathy (LHON), where a point mutation of mitochondria DNA from guanine to adenine on nucleotide position 11778 was verified. Both also had cerebellar ataxia and dysarthria and in both cases cerebellar atrophies were detected by computed tomography or magnetic resonance imaging. It was not possible to elucidate the relationship between LHON and the cerebellar atrophy, but it should be kept in mind that various neurological complications may occur in LHON.

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Year:  1995        PMID： 7707093     DOI： 10.1007/bf00887819

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  7 in total

1.  Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation.

Authors:  A E Harding; M G Sweeney; D H Miller; C J Mumford; H Kellar-Wood; D Menard; W I McDonald; D A Compston
Journal:  Brain       Date:  1992-08       Impact factor: 13.501

2.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

3.  Neurological studies in families with Leber's optic atrophy.

Authors:  C J de Weerdt; L N Went
Journal:  Acta Neurol Scand       Date:  1971       Impact factor: 3.209

4.  Central nervous system involvement in Leber's optic neuropathy.

Authors:  W Paulus; A Straube; W Bauer; A E Harding
Journal:  J Neurol       Date:  1993       Impact factor: 4.849

Review 5.  Leber's hereditary optic neuropathy. New genetic considerations.

Authors:  N J Newman
Journal:  Arch Neurol       Date:  1993-05

6.  Leber's disease and dystonia: a mitochondrial disease.

Authors:  E J Novotny; G Singh; D C Wallace; L J Dorfman; A Louis; R L Sogg; L Steinman
Journal:  Neurology       Date:  1986-08       Impact factor: 9.910

7.  Leber's hereditary optic neuropathy and complex I deficiency in muscle.

Authors:  N G Larsson; O Andersen; E Holme; A Oldfors; J Wahlström
Journal:  Ann Neurol       Date:  1991-11       Impact factor: 10.422
  7 in total
  9 in total

1.  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

2.  A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.

Authors:  Alfredo A Sadun; Valerio Carelli; Solange R Salomao; Adriana Berezovsky; Peter Quiros; Federico Sadun; Anna-Maria DeNegri; Rafael Andrade; Stan Schein; Rubens Belfort
Journal:  Trans Am Ophthalmol Soc       Date:  2002

3.  Brain white matter changes in asymptomatic carriers of Leber's hereditary optic neuropathy.

Authors:  Miaomiao Long; Ling Wang; Qin Tian; Hao Ding; Wen Qin; Dapeng Shi; Chunshui Yu
Journal:  J Neurol       Date:  2019-03-25       Impact factor: 4.849

4.  Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited.

Authors:  Khaled K Abu-Amero
Journal:  Middle East Afr J Ophthalmol       Date:  2011-01

5.  Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.

Authors:  Abdulaziz Alsemari; Hindi Nasser Al-Hindi
Journal:  Clin Case Rep       Date:  2015-11-23

6.  Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.

Authors:  Angelica Bianco; Luigi Bisceglia; Maria Fara De Caro; Valeria Galeandro; Patrizia De Bonis; Apollonia Tullo; Stefano Zoccolella; Silvana Guerriero; Vittoria Petruzzella
Journal:  BMC Med Genet       Date:  2018-07-27       Impact factor: 2.103

Review 7.  Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.

Authors:  Piervito Lopriore; Valentina Ricciarini; Gabriele Siciliano; Michelangelo Mancuso; Vincenzo Montano
Journal:  Neurol Int       Date:  2022-04-02

8.  Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.

Authors:  Nichola Zoe Lax; Philippa Denis Hepplewhite; Amy Katherine Reeve; Victoria Nesbitt; Robert McFarland; Evelyn Jaros; Robert William Taylor; Douglass Matthew Turnbull
Journal:  J Neuropathol Exp Neurol       Date:  2012-02       Impact factor: 3.685

9.  Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA.

Authors:  Kazuhiro Nakaso; Yoshiki Adachi; Emi Fusayasu; Koji Doi; Keiko Imamura; Kenichi Yasui; Kenji Nakashima
Journal:  J Clin Neurol       Date:  2012-09-27       Impact factor: 3.077
  9 in total

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