Literature DB >> 29891055

Mitochondrial ataxias.

Hilary J Vernon1, Laurence A Bindoff2.   

Abstract

Ataxia is one of the most frequent symptoms of mitochondrial disease. In most cases it occurs as part of a syndromic disorder and the combination of ataxia with other neurologic involvement such as epilepsy is common. Mitochondrial ataxias can be caused by disturbance of the cerebellum and its connections, involvement of proprioception (i.e., sensory ataxia) or a combination of both (spinocerebellar). There are no specific features that define an ataxia as mitochondrial, except perhaps the tendency for it to occur together with involvement of multiple other sites, both in the nervous system and outside. In this review we will concentrate on the mitochondrial disorders in which ataxia is a prominent and consistent feature and focus on the clinical features and genetic causes.
Copyright © 2018 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  cerebellum; electron transport chain; heteroplasmy; mitochondria; oxidative phosphorylation

Mesh:

Substances:

Year:  2018        PMID: 29891055     DOI: 10.1016/B978-0-444-64189-2.00009-3

Source DB:  PubMed          Journal:  Handb Clin Neurol        ISSN: 0072-9752


  3 in total

1.  Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias?

Authors:  José Luiz Pedroso; Wladimir Bocca Vieira de Rezende Pinto; Orlando Graziani Povoas Barsottini; Acary Souza Bulle Oliveira
Journal:  Cerebellum Ataxias       Date:  2020-08-24

2.  Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.

Authors:  Juan Sebastian Martin-Saavedra; Sara Reis Teixeira; Cesar Augusto Pinheiro Ferreira Alves; Fabrício Guimarães Gonçalves; Luis Octavio Tierradentro-García; Martin Kidd; Colleen Muraresku; Amy Goldstein; Arastoo Vossough
Journal:  Cerebellum       Date:  2021-05-30       Impact factor: 3.847

3.  PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Authors:  Anne Guimier; Melanie T Achleitner; Christopher T Gordon; Jeanne Amiel; Johannes A Mayr; Kit Doudney; Anne Moreau de Bellaing; Matthew Edwards; Loïc de Pontual; Kirti Mittal; Kyla E Dunn; Megan E Grove; Carolyn J Tysoe; Clémantine Dimartino; Jessie Cameron; Anil Kanthi; Anju Shukla; Florence van den Broek; Diptendu Chatterjee; Charlotte L Alston; Charlotte V Knowles; Laura Brett; Jan A Till; Tessa Homfray; Paul French; Georgia Spentzou; Noha A Elserafy; Kate S Lichkus; Bindu P Sankaran; Hannah L Kennedy; Peter M George; Alexa Kidd; Saskia B Wortmann; Dianna G Fisk; Tamara T Koopmann; Muhammad A Rafiq; Jason D Merker; Sumith Parikh; Priyanka Ahimaz; Robert G Weintraub; Alan S Ma; Christian Turner; Carolyn J Ellaway; Liza K Phillips; David R Thorburn; Wendy K Chung; Sajel L Kana; Ona M Faye-Petersen; Michelle L Thompson; Alexandre Janin; Karen McLeod; Ruth McGowan; Robert McFarland; Katta M Girisha; Deborah J Morris-Rosendahl; Anna C E Hurst; Claire L S Turner; Robert M Hamilton; Robert W Taylor; Fanny Bajolle
Journal:  Genet Med       Date:  2021-08-16       Impact factor: 8.822

  3 in total

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