Author: Clement, G.; Puisieux, S.; Pellerin, D.; Brais, B.; Bonnet, C.; Renaud, M.
Description: Genetic cerebellar ataxias are still a diagnostic challenge, and yet not all of them have been identified. Very recently, in early 2023, a new cause of late-onset cerebellar ataxia (LOCA) was identified, spinocerebellar ataxia 27B (SCA27B). This is an autosomal dominant ataxia due to a GAA expansion in intron 1 of the FGF14 gene. Thanks to the many studies carried out since its discovery, it is now possible to define the clinical phenotype, its particularities, and the progression of SCA27B. It has also been established that it is one of the most frequent causes of LOCA. The core phenotype of the disease consists of slowly progressive late-onset ataxia with cerebellar syndrome, oculomotor disorders including downbeat nystagmus, and episodic symptoms such as diplopia. Therapeutic approaches have been proposed, including acetazolamide, and 4-aminopyridine, the latter with a better benefit/tolerance profile.
Subject headings: Spinocerebellar Degenerations; Fibroblast Growth Factors; Introns; Humans; Male; Female; Adult; Middle Aged; Aged; Brain; Magnetic Resonance Imaging; Gait disorders/ataxia; Movement disorders; Neurogenetics; SCA27B; Spinocerebellar ataxia
Publication year: 2024
Journal or book title: Revue Neurologique
Volume: 180
Issue: 5
Pages: 410-416
Find the full text: https://static1.squarespace.com/static/6454545bf3bc4754dc65da4e/t/6671de577facaa57dbac5994/1718738520323/Clement+2024_SCA27B+-+a+frequent+late-onset+cerebellar+ataxia.pdf
Find more like this one (cited by): https://scholar.google.com/scholar?cites=2426106710391087294&as_sdt=1000005&sciodt=0,16&hl=en
Serial number: 4142