J. Gazulla, A. Rodríguez-Valle, Leonor María Calatayud-Lallana, José Berciano
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引用次数: 0
摘要
导言亚历山大病是由神经胶质纤维酸性蛋白 GFAP 基因突变引起的。成人发病型亚历山大病(AOAxD)患者的喉外震颤尚未见报道。本文旨在报告一例此类病例,并回顾有关腭喉震颤和亚历山大病的文献。一名 43 岁的男子颈部前侧出现不自主运动。他的喉部骨骼、软腭和舌头出现了连续、有节奏的垂直运动,下肢也出现了运动障碍。发现了致病的GFAP变异体c.994G>A; p. (Glu332Lys)。核磁共振成像显示脊髓和延髓萎缩,小脑和脑白质高密度。喉外震颤、腭咽震颤和小脑共济失调构成了该变异型的轻度表型,这也是该变异型的第三次单独报道。成像结果与 AOAxD 一致,包括所谓的蝌蚪征。有必要进行更多研究,以确定这种罕见疾病。
External laryngeal tremor in adult-onset Alexander disease
Introduction. Alexander disease is caused by mutations in GFAP, the glial fibrillary acidic protein gene. External laryngeal tremor has not been reported in adult-onset Alexander disease (AOAxD). The aims of this work were to report one such case, and to review the literature on palatolaryngeal tremor and AOAxD.
Case presentation. A 43-year-old man experienced involuntary movements at the front of his neck. Continuous, rhythmic vertical movements of the laryngeal skeleton, soft palate and tongue, and lower-limb dysmetria, were observed. The pathogenic GFAP variant, c.994G>A; p.(Glu332Lys) was found. MRI demonstrated spinal cord and medulla oblongata atrophy, and hyperintensities at the cerebellum and cerebral white matter.
Conclusion. External laryngeal and palatopharyngeal tremor, and cerebellar ataxia, constituted a mild phenotype as expected from this variant, herein reported in isolation for the third time. Imaging was consistent with AOAxD, including the so-called tadpole sign. Additional studies are necessary to define this infrequent disease.
期刊介绍:
This new peer-reviewed online-only journal publishes original case reports covering the entire spectrum of neurology. Clinicians and researchers are given a tool to disseminate their personal experience to a wider public as well as to review interesting cases encountered by colleagues all over the world. To complement the contributions supplementary material is welcomed. The reports are searchable according to the key words supplied by the authors; it will thus be possible to search across the entire growing collection of case reports with universally used terms, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.