{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:25:39Z","timestamp":1791293139570,"version":"4.1.0"},"reference-count":89,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,13]],"date-time":"2014-01-13T00:00:00Z","timestamp":1389571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2014,4]]},"abstract":"\n Background and objectives<\/jats:title>\n The ataxias are a challenging group of neurological diseases due the aetiological heterogeneity and the complexity of the genetic subtypes. This guideline focuses on the heredodegenerative ataxias. The aim is to provide a peer\u2010reviewed evidence\u2010based guideline for clinical neurologists and other specialist physicians responsible for the care of patients with ataxia.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n This guideline is based on systematic evaluations of the relevant literature and on three consensus meetings of the task force.<\/jats:p>\n <\/jats:sec>\n \n Diagnosis<\/jats:title>\n \n If acquired causes are ruled out, and if the disease course is rather slowly progressive, a (heredo)degenerative disease is likely. A positive family history gives much guidance. In the case of a dominant family history, first line genetic screening is recommended for spinocerebellar ataxia (\n SCA<\/jats:styled-content>\n ) 1, 2, 3, 6, 7 and 17 (level\n B<\/jats:styled-content>\n ), and in Asian patients also for dentatorubral\u2010pallidoluysian atrophy (\n DRPLA<\/jats:styled-content>\n ). In the case of recessive disease, a stepwise diagnostic work\u2010up is recommended, including both biochemical markers and targeted genetic testing, particularly aimed at\n F<\/jats:styled-content>\n riedreich's ataxia, ataxia telangiectasia, ataxia due to vitamin\n E<\/jats:styled-content>\n deficiency, polymerase gamma gene (\n POLG<\/jats:styled-content>\n gene, various mutations), autosomal recessive spastic ataxia of\n C<\/jats:styled-content>\n harlevoix\u2212\n S<\/jats:styled-content>\n aguenay (\n ARSACS<\/jats:styled-content>\n ) and ataxia with oculomotor apraxia (\n AOA<\/jats:styled-content>\n ) types 1 and 2. If family history is negative, we still advise to screen for the more common dominant and recessive ataxias. In addition, if onset is below 45\u00a0years we recommend the full work\u2010up for recessive ataxias; if onset is above 45\u00a0years we recommend to screen for fragile X mental retardation 1\n \n FMR<\/jats:styled-content>\n 1\n <\/jats:italic>\n premutations (good practice points). In sporadic cases with an onset after 30\u00a0years, a diagnosis of multiple system atrophy should be considered (good practice point). In particular the genetic work\u2010up will change over the upcoming years due to the diagnostic utility of new techniques such as gene panel diagnostics based on next generation sequencing for routine work\u2010up, or even whole exome and genome sequencing for selected cases.\n <\/jats:p>\n <\/jats:sec>\n \n Treatment<\/jats:title>\n \n Some of the rare recessive ataxias are treatable, but for most of the heredodegenerative ataxias treatment is purely symptomatic. Idebenone is not effective in\n F<\/jats:styled-content>\n riedreich's ataxia (level\n A<\/jats:styled-content>\n ). Riluzole (level\n B<\/jats:styled-content>\n ) and amantadine (level\n C<\/jats:styled-content>\n ) might provide symptomatic relief, irrespective of exact etiology. Also, varenicline for\n SCA<\/jats:styled-content>\n 3 patients (level\n B<\/jats:styled-content>\n ) can be considered. There is level Class\n II<\/jats:styled-content>\n evidence to recommend physiotherapy, and Class\n III<\/jats:styled-content>\n data to support occupational therapy.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/ene.12341","type":"journal-article","created":{"date-parts":[[2014,1,13]],"date-time":"2014-01-13T09:30:43Z","timestamp":1389605443000},"page":"552-562","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":90,"title":["EFNS<\/scp>\n \/\n ENS<\/scp>\n Consensus on the diagnosis and management of chronic ataxias in adulthood"],"prefix":"10.1111","volume":"21","author":[{"given":"B. P. 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