Literature DB >> 27050855

Current concepts in the treatment of hereditary ataxias.

Pedro Braga Neto1, José Luiz Pedroso2, Sheng-Han Kuo3, C França Marcondes Junior4, Hélio Afonso Ghizoni Teive5, Orlando Graziani Povoas Barsottini2.   

Abstract

Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis.

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Year:  2016        PMID: 27050855      PMCID: PMC6089349          DOI: 10.1590/0004-282X20160038

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN: 0004-282X            Impact factor:   1.420


  57 in total

1.  Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.

Authors:  Merce Pineda; Raquel Montero; Asuncion Aracil; Mar M O'Callaghan; Ana Mas; Carmen Espinos; Dolores Martinez-Rubio; Francesc Palau; Placido Navas; Paz Briones; Rafael Artuch
Journal:  Mov Disord       Date:  2010-07-15       Impact factor: 10.338

2.  A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.

Authors:  M Strupp; R Kalla; J Claassen; C Adrion; U Mansmann; T Klopstock; T Freilinger; H Neugebauer; R Spiegel; M Dichgans; F Lehmann-Horn; K Jurkat-Rott; T Brandt; J C Jen; K Jahn
Journal:  Neurology       Date:  2011-07-06       Impact factor: 9.910

Review 3.  Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management.

Authors:  R Weinstein
Journal:  J Clin Apher       Date:  1999       Impact factor: 2.821

4.  Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis.

Authors:  A Verrips; R A Wevers; B G Van Engelen; A Keyser; B G Wolthers; F Barkhof; A Stalenhoef; R De Graaf; F Janssen-Zijlstra; A Van Spreeken; F J Gabreëls
Journal:  Metabolism       Date:  1999-02       Impact factor: 8.694

5.  Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Authors:  Wilhelmina G Leen; Joerg Klepper; Marcel M Verbeek; Maike Leferink; Tom Hofste; Baziel G van Engelen; Ron A Wevers; Todd Arthur; Nadia Bahi-Buisson; Diana Ballhausen; Jolita Bekhof; Patrick van Bogaert; Inês Carrilho; Brigitte Chabrol; Michael P Champion; James Coldwell; Peter Clayton; Elizabeth Donner; Athanasios Evangeliou; Friedrich Ebinger; Kevin Farrell; Rob J Forsyth; Christian G E L de Goede; Stephanie Gross; Stephanie Grunewald; Hans Holthausen; Sandeep Jayawant; Katherine Lachlan; Vincent Laugel; Kathy Leppig; Ming J Lim; Grazia Mancini; Adela Della Marina; Loreto Martorell; Joe McMenamin; Marije E C Meuwissen; Helen Mundy; Nils O Nilsson; Axel Panzer; Bwee T Poll-The; Christian Rauscher; Christophe M R Rouselle; Inger Sandvig; Thomas Scheffner; Eamonn Sheridan; Neil Simpson; Parol Sykora; Richard Tomlinson; John Trounce; David Webb; Bernhard Weschke; Hans Scheffer; Michél A Willemsen
Journal:  Brain       Date:  2010-02-02       Impact factor: 13.501

6.  Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.

Authors:  Ping K Chan; Raul Torres; Cihangir Yandim; Pui P Law; Sanjay Khadayate; Marta Mauri; Crina Grosan; Nadine Chapman-Rothe; Paola Giunti; Mark Pook; Richard Festenstein
Journal:  Hum Mol Genet       Date:  2013-03-07       Impact factor: 6.150

7.  Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.

Authors:  Silvia Romano; Giulia Coarelli; Christian Marcotulli; Luca Leonardi; Francesca Piccolo; Maria Spadaro; Marina Frontali; Michela Ferraldeschi; Maria Chiara Vulpiani; Federica Ponzelli; Marco Salvetti; Francesco Orzi; Antonio Petrucci; Nicola Vanacore; Carlo Casali; Giovanni Ristori
Journal:  Lancet Neurol       Date:  2015-08-25       Impact factor: 44.182

Review 8.  Speech in spinocerebellar ataxia.

Authors:  Ellika Schalling; Lena Hartelius
Journal:  Brain Lang       Date:  2013-10-30       Impact factor: 2.381

Review 9.  Treatment for mitochondrial disorders.

Authors:  Gerald Pfeffer; Kari Majamaa; Douglass M Turnbull; David Thorburn; Patrick F Chinnery
Journal:  Cochrane Database Syst Rev       Date:  2012-04-18

Review 10.  Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames.

Authors:  Matthis Synofzik; Winfried Ilg
Journal:  Biomed Res Int       Date:  2014-04-27       Impact factor: 3.411

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  9 in total

Review 1.  Ataxia.

Authors:  Sheng-Han Kuo
Journal:  Continuum (Minneap Minn)       Date:  2019-08

Review 2.  Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review.

Authors:  Sze Yuen Lew; Michael Weng Lok Phang; Pit Shan Chong; Jaydeep Roy; Chi Him Poon; Wing Shan Yu; Lee Wei Lim; Kah Hui Wong
Journal:  Pharmaceuticals (Basel)       Date:  2022-06-19

3.  'Staying strong on the inside and outside' to keep walking and moving around: Perspectives from Aboriginal people with Machado Joseph Disease and their families from the Groote Eylandt Archipelago, Australia.

Authors:  Jennifer J Carr; Joyce Lalara; Gayangwa Lalara; Gloria O'Hare; Libby Massey; Nick Kenny; Kate E Pope; Alan R Clough; Anne Lowell; Ruth N Barker
Journal:  PLoS One       Date:  2019-03-11       Impact factor: 3.240

4.  What is the best way to keep walking and moving around for individuals with Machado-Joseph disease? A scoping review through the lens of Aboriginal families with Machado-Joseph disease in the Top End of Australia.

Authors:  Jennifer J Carr; Joyce Lalara; Gayangwa Lalara; Moira Smith; Jennifer Quaill; Alan R Clough; Anne Lowell; Ruth N Barker
Journal:  BMJ Open       Date:  2019-09-30       Impact factor: 2.692

Review 5.  Therapeutic roles of natural remedies in combating hereditary ataxia: A systematic review.

Authors:  Michael Weng Lok Phang; Sze Yuen Lew; Ivy Chung; William Kiong-Seng Lim; Lee Wei Lim; Kah Hui Wong
Journal:  Chin Med       Date:  2021-01-28       Impact factor: 5.455

6.  Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family.

Authors:  Nannan Qian; Taohua Wei; Wenming Yang; Jiuxiang Wang; Shijie Zhang; Shan Jin; Wei Dong; Wenjie Hao; Yue Yang; Ru Huang
Journal:  Front Genet       Date:  2022-02-23       Impact factor: 4.599

7.  Case report: A novel APTX p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1.

Authors:  Xuan Wu; Nan Dong; Zhensheng Liu; Tieyu Tang; Meirong Liu
Journal:  Front Neurol       Date:  2022-09-01       Impact factor: 4.086

8.  Serum neurofilament light chain as a severity marker for spinocerebellar ataxia.

Authors:  Hye-Rim Shin; Jangsup Moon; Woo-Jin Lee; Han Sang Lee; Eun Young Kim; Seoyi Shin; Soon-Tae Lee; Keun-Hwa Jung; Kyung-Il Park; Ki-Young Jung; Sang Kun Lee; Kon Chu
Journal:  Sci Rep       Date:  2021-06-29       Impact factor: 4.379

9.  Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias.

Authors:  Shi-Rui Gan; Jie Wang; Karla P Figueroa; Stefan M Pulst; Darya Tomishon; Danielle Lee; Susan Perlman; George Wilmot; Christopher M Gomez; Jeremy Schmahmann; Henry Paulson; Vikram G Shakkottai; Sarah H Ying; Theresa Zesiewicz; Khalaf Bushara; Michael D Geschwind; Guangbin Xia; S H Subramony; Tetsuo Ashizawa; Sheng-Han Kuo
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2017-10-09
  9 in total

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