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

摘要: Background and objectives: The ataxias are a challenging group of neurological diseases due the aetiological heterogeneity complexity genetic subtypes. This guideline focuses on heredodegenerative ataxias. aim is to provide peer-reviewed evidence-based for clinical neurologists other specialist physicians responsible care patients with ataxia. Methods: based systematic evaluations relevant literature three consensus meetings task force. Diagnosis: If acquired causes ruled out, if disease course rather slowly progressive, (heredo)degenerative likely. A positive family history gives much guidance. In case dominant history, first line screening recommended spinocerebellar ataxia (SCA) 1, 2, 3, 6, 7 17 (level B), in Asian also dentatorubral-pallidoluysian atrophy (DRPLA). recessive disease, stepwise diagnostic work-up recommended, including both biochemical markers targeted testing, particularly aimed at Friedreich's ataxia, telangiectasia, vitamin E deficiency, polymerase gamma gene (POLG gene, various mutations), autosomal spastic Charlevoix-Saguenay (ARSACS) oculomotor apraxia (AOA) types 1 2. negative, we still advise screen more common addition, onset below 45 years recommend full ataxias; above fragile X mental retardation FMR1 premutations (good practice points). sporadic cases an after 30 years, diagnosis multiple system should be considered point). particular will change over upcoming utility new techniques such as panel diagnostics next generation sequencing routine work-up, or even whole exome genome selected cases. Treatment: Some rare treatable, but most treatment purely symptomatic. Idebenone not effective A). Riluzole B) amantadine C) might symptomatic relief, irrespective exact etiology. Also, varenicline SCA3 can considered. There level Class II evidence physiotherapy, III data support occupational therapy. © 2014 EFNS.