Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Nishide M, Le Marquand K, Davis MR, Halmágyi GM, Fellner A, Narayanan RK, Kennerson ML, Reddel SW, Worgan L, Panegyres PK, Kumar KR.
Nishide M, et al.
Cerebellum. 2024 Feb;23(1):268-277. doi: 10.1007/s12311-023-01522-8. Epub 2023 Jan 25.
Cerebellum. 2024.
PMID: 36696030
Free PMC article.
Review.
The majority had gait ataxia (88.3%), limb ataxia (76.7%), dysarthria (63.3%), and nystagmus (58.3%). Of note, skin lesions related to erythrokeratoderma were seen in a minority of cases (33.3%). Other extracerebellar manifestations included pyramidal tract signs, autonomi …
The majority had gait ataxia (88.3%), limb ataxia (76.7%), dysarthria (63.3%), and nystagmus (58.3%). Of note, skin lesions related t …