EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood



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-reviewed evidence-based guideline for clinical neurologists and other specialist physicians responsible for the care of patients with ataxia.


This guideline is based on systematic evaluations of the relevant literature and on three consensus meetings of the task force.


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 (SCA) 1, 2, 3, 6, 7 and 17 (level B), and in Asian patients also for dentatorubral-pallidoluysian atrophy (DRPLA). In the case of recessive disease, a stepwise diagnostic work-up is recommended, including both biochemical markers and targeted genetic testing, particularly aimed at Friedreich's ataxia, ataxia telangiectasia, ataxia due to vitamin E deficiency, polymerase gamma gene (POLG gene, various mutations), autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and ataxia with oculomotor apraxia (AOA) 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 years we recommend the full work-up for recessive ataxias; if onset is above 45 years we recommend to screen for fragile X mental retardation 1 FMR1 premutations (good practice points). In sporadic cases with an onset after 30 years, a diagnosis of multiple system atrophy should be considered (good practice point). In particular the genetic work-up 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-up, or even whole exome and genome sequencing for selected cases.


Some of the rare recessive ataxias are treatable, but for most of the heredodegenerative ataxias treatment is purely symptomatic. Idebenone is not effective in Friedreich's ataxia (level A). Riluzole (level B) and amantadine (level C) might provide symptomatic relief, irrespective of exact etiology. Also, varenicline for SCA3 patients (level B) can be considered. There is level Class II evidence to recommend physiotherapy, and Class III data to support occupational therapy.

© 2014 The Author(s) European Journal of Neurology © 2014 EFNS.


Thanks Alan! xB

Good guideline to give doctors who do not seem to know much about ataxia.
Thanks Alan.

Important information! Thanks for sharing Alan! ;o)

The aim is to provide a peer-reviewed evidence-based guideline

Seemingly they have agreed to recommend a screening for SCA 1,2,3,6,7 and 17 and DRPLA (for Asian patients). These are said to be disorders typically connected with neuropsychological and psychiatric symptoms. So the tests for the respective gene mutations should be done following this guideline. If the testing would be positive for one SCA out of these abovementioned, the patient has got her/his genetically proved diagnosis. This screening method will surely encrease the number of the diagnoses of these "PolyQ disorders/ataxias" and will help to diminuish the financial burden this group of patients causes for the social and health systems of the participating countries. Prenatal testing is easier then, too. The state systems will probably pay for these testings because the project is cost-effective. But what`s about the further diagnostic testing of patients with family history and/or signs of spinocerebellar disease, who did not get positive results for one of the PolyQ ataxias?

Not so happy about the abstract,

love and kind regards Akita

Association between spinocerebellar ataxias caused by glutamine expansion and psychiatric and neuropsychological signals - a literature review.


I fear, that in most cases patients negative for the provided, recommended first-line testing will not be tested for the other SCAs, except they would go to private institutes. Cerebellar Ataxias are rare diseases and there might not be enough specialists in a country to cover the diagnostic needs of the individual person.

Whole genome sequencing can be done but there is the need for somebody analysing the result for a diagnosis.. ??