Verrecchia Luca, Alm Victor, Thonberg Håkan, Lenner Felix, Paivandy Aida, Feuk Lars, Lindstrand Anna, Nilsson Daniel, Paucar Martin
ENT Unit, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.
Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
Neurol Genet. 2025 Jan 16;11(1):e200238. doi: 10.1212/NXG.0000000000200238. eCollection 2025 Feb.
Since the discovery of biallelic pentanucleotide expansions in as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article, we report a man with acute vestibular syndrome that likely unmasked a -spectrum disorder.
Detailed clinical evaluation, neuroimaging, nerve conduction studies, evaluation of vestibular function, and short-read whole-genome sequencing and targeted long-read adaptive sequencing were performed.
Clinical follow-up after acute vestibular syndrome revealed bilateral vestibular areflexia and a gait abnormality with the Scale for the Assessment and Rating of Ataxia score of 5. Brain MRI was normal while 2 electroneurography tests did not show neuropathy. However, severe cough spells raised the suspicion of a -spectrum disorder. WGS screening detected a recessive intronic pentanucleotide expansion in , which was verified and sized using long-read adaptive sequencing.
This is an unusual presentation; oscillopsia after an acute vestibular syndrome and cough spells should alert clinicians about a -spectrum disorder, even in the absence of neuropathy and neuroradiologic abnormalities.
自从发现双等位基因五核苷酸扩增是小脑共济失调、神经病变、前庭无反射综合征的病因以来，已出现了广泛且不断增加的临床谱系。在本文中，我们报告了一名患有急性前庭综合征的男性，该综合征可能掩盖了一种[未提及具体病症名称]谱系障碍。
进行了详细的临床评估、神经影像学检查、神经传导研究、前庭功能评估以及短读长全基因组测序和靶向长读长适应性测序。
急性前庭综合征后的临床随访显示双侧前庭无反射以及共济失调评估与分级量表评分为5分的步态异常。脑部磁共振成像正常，而两次神经电生理学检查未显示神经病变。然而，严重的咳嗽发作引发了对[未提及具体病症名称]谱系障碍的怀疑。全基因组测序筛查在[未提及具体基因名称]中检测到一个隐性内含子五核苷酸扩增，使用长读长适应性测序对其进行了验证和大小测定。
这是一种不寻常的表现；急性前庭综合征后的视振荡和咳嗽发作应提醒临床医生注意[未提及具体病症名称]谱系障碍，即使在没有神经病变和神经放射学异常的情况下。
