Clinical and Video-Oculographic Characteristics of Spinocerebellar Ataxia Type 27B (GAA-<i>FGF14</i> Ataxia): A Single-Center Retrospective Study

Clinical and Video-Oculographic Characteristics of Spinocerebellar Ataxia Type 27B (GAA-<i>FGF14</i> Ataxia): A Single-Center Retrospective Study

An intronic GAA repeat expansion in the <i>FGF14</i> gene was recently identified as a common cause of autosomal dominant GAA-<i>FGF14</i> ataxia (SCA27B). We aimed to characterize in detail the clinical and video-oculographic features in our cohort of SCA27B patients. We gen...

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Bibliographic Details
Main Authors: Evgenii Nuzhnyi, Natalia Abramycheva, Arina Protsenko, Alexandra Belyakova-Bodina, Ekaterina Larina, Ekaterina Fedotova, Sergey Klyushnikov, Sergey Illarioshkin
Format: Article
Language:English
Published: MDPI AG 2024-10-01
Series:Clinical and Translational Neuroscience
Subjects:
cerebellar ataxia
GAA-<i>FGF14</i> ataxia
<i>FGF14</i>
SCA27B
genetics
video-oculography
Online Access:https://www.mdpi.com/2514-183X/8/4/29
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