Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).
Widad Abou ChaarAnirudh N ErankiHannah A StevensSonya L WatsonDarice Y WongVeronica S AvilaMegan DelfeldAlexander J GarySanjukta TawdeMalia TrieboldMarcello CherchiTao XiePaul J LockhartMelanie BahloDavid PellerinMarie-Josée DicaireMatt DanziStephan ZuchnerBernard C BraisSusan PerlmanMargit BurmeisterHenry PaulsonSharan SrinivasanLawrence SchutMatthew BowerKhalaf BusharaChuanhong LiaoVikram G ShakkottaiJohn CollinsH Brent ClarkSoma DasBrent L FogelChristopher M GomezPublished in: Annals of neurology (2024)
Our study further estimates prevalence and further expands the clinical, imaging and pathological features of SCA27B, while looking at treatment response, disease progression, and survival in patients with this disease. Testing for SCA27B should be considered in all undiagnosed ataxia patients, especially those with episodic onset. ANN NEUROL 2024.