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• W2025534758 abstract "Background and objectives 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. Methods This guideline is based on systematic evaluations of the relevant literature and on three consensus meetings of the task force. Diagnosis 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 F riedreich's ataxia, ataxia telangiectasia, ataxia due to vitamin E deficiency, polymerase gamma gene ( POLG gene, various mutations), autosomal recessive spastic ataxia of C harlevoix− S aguenay ( 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 FMR 1 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. Treatment Some of the rare recessive ataxias are treatable, but for most of the heredodegenerative ataxias treatment is purely symptomatic. Idebenone is not effective in F riedreich's ataxia (level A ). Riluzole (level B ) and amantadine (level C ) might provide symptomatic relief, irrespective of exact etiology. Also, varenicline for SCA 3 patients (level B ) can be considered. There is level Class II evidence to recommend physiotherapy, and Class III data to support occupational therapy." @default.
• W2025534758 created "2016-06-24" @default.
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• W2025534758 date "2014-01-13" @default.
• W2025534758 modified "2023-09-30" @default.
• W2025534758 title "EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood" @default.
• W2025534758 cites W151199262 @default.
• W2025534758 cites W1935714392 @default.
• W2025534758 cites W1963713899 @default.
• W2025534758 cites W1972844230 @default.
• W2025534758 cites W1973480039 @default.
• W2025534758 cites W1976661512 @default.
• W2025534758 cites W1983053647 @default.
• W2025534758 cites W1987279188 @default.
• W2025534758 cites W1988939129 @default.
• W2025534758 cites W1989109045 @default.
• W2025534758 cites W1993834781 @default.
• W2025534758 cites W1997849167 @default.
• W2025534758 cites W2003884860 @default.
• W2025534758 cites W2006281673 @default.
• W2025534758 cites W2007133363 @default.
• W2025534758 cites W2007897212 @default.
• W2025534758 cites W2008906203 @default.
• W2025534758 cites W2009568396 @default.
• W2025534758 cites W2014896444 @default.
• W2025534758 cites W2015311273 @default.
• W2025534758 cites W2015799433 @default.
• W2025534758 cites W2018775741 @default.
• W2025534758 cites W2025295962 @default.
• W2025534758 cites W2031861613 @default.
• W2025534758 cites W2031913366 @default.
• W2025534758 cites W2042878548 @default.
• W2025534758 cites W2043364160 @default.
• W2025534758 cites W2043965507 @default.
• W2025534758 cites W2044463545 @default.
• W2025534758 cites W2047185907 @default.
• W2025534758 cites W2051186583 @default.
• W2025534758 cites W2052445399 @default.
• W2025534758 cites W2054546468 @default.
• W2025534758 cites W2055267501 @default.
• W2025534758 cites W2055358153 @default.
• W2025534758 cites W2062795209 @default.
• W2025534758 cites W2063696087 @default.
• W2025534758 cites W2066470075 @default.
• W2025534758 cites W2070577009 @default.
• W2025534758 cites W2071819911 @default.
• W2025534758 cites W2072672031 @default.
• W2025534758 cites W2075338220 @default.
• W2025534758 cites W2078990452 @default.
• W2025534758 cites W2079189920 @default.
• W2025534758 cites W2083505804 @default.
• W2025534758 cites W2084359554 @default.
• W2025534758 cites W2086798325 @default.
• W2025534758 cites W2086887131 @default.
• W2025534758 cites W2088680533 @default.
• W2025534758 cites W2090915762 @default.
• W2025534758 cites W2093083443 @default.
• W2025534758 cites W2104957950 @default.
• W2025534758 cites W2106156983 @default.
• W2025534758 cites W2108233659 @default.
• W2025534758 cites W2110330581 @default.
• W2025534758 cites W2112499943 @default.
• W2025534758 cites W2120209053 @default.
• W2025534758 cites W2121343109 @default.
• W2025534758 cites W2122033671 @default.
• W2025534758 cites W2123257432 @default.
• W2025534758 cites W2126573966 @default.
• W2025534758 cites W2134427792 @default.
• W2025534758 cites W2134741840 @default.
• W2025534758 cites W2140890859 @default.
• W2025534758 cites W2155299862 @default.
• W2025534758 cites W2155503300 @default.
• W2025534758 cites W2161607871 @default.
• W2025534758 cites W2164634060 @default.
• W2025534758 cites W2164941466 @default.
• W2025534758 cites W2166450724 @default.
• W2025534758 cites W2166691293 @default.
• W2025534758 cites W2167348059 @default.
• W2025534758 cites W2168816567 @default.
• W2025534758 cites W2169033404 @default.
• W2025534758 cites W2317409536 @default.
• W2025534758 cites W2406595647 @default.
• W2025534758 cites W2417028467 @default.
• W2025534758 cites W3160886994 @default.
• W2025534758 cites W4210392257 @default.
• W2025534758 cites W4244959897 @default.
• W2025534758 cites W2060518848 @default.
• W2025534758 doi "https://doi.org/10.1111/ene.12341" @default.
• W2025534758 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24418350" @default.

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