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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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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Summary: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 genotyped the <i>FGF14</i> GAA repeat expansion in 52 patients with unsolved late-onset cerebellar ataxia. Brain MRI and nerve conduction study, as well as video-oculographic (VOG) assessment, were performed. Eight patients (15.4%) with pathogenic GAA repeat expansion in the <i>FGF14</i> gene were found. The median age at onset was 51 years (range—23–63 years). Sensory axonal neuropathy was found in 5/8 patients. Cerebellar atrophy was observed in 5/8 patients, and in one case, pontocerebellar atrophy was found. All tested patients had impaired smooth pursuit, 5/6 patients had impaired vestibulo-ocular reflex suppression, nystagmus, and an increased number of square wave jerks, 4/6 patients had horizontal gaze-evoked nystagmus, 3/6 had spontaneous downbeat nystagmus, and 1/6 had an upbeat one. Video head impulse test gain was lower than 0.8 on both sides in 2/4 patients, along with the presence of overt saccades. Further studies in different cohorts are needed to complete the phenotype of the <i>FGF14</i>-related disorders.
ISSN:2514-183X

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