Gazulla José, Rodríguez-Valle Ana, Calatayud-Lallana Leonor María, Berciano José
Department of Neurology, Hospital Universitario Miguel Servet. Isabel la Católica, Zaragoza, Spain.
Section of Genetics, Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain.
Case Rep Neurol. 2024 May 3;16(1):129-135. doi: 10.1159/000539038. eCollection 2024 Jan-Dec.
Alexander disease is caused by mutations in , 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 palatopharyngeal tremor and AOAxD.
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 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.
External laryngeal, 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.
亚历山大病由胶质纤维酸性蛋白基因（GFAP）突变引起。成人型亚历山大病（AOAxD）中尚未有喉外震颤的报道。本研究的目的是报告一例此类病例，并回顾有关腭咽震颤和AOAxD的文献。
一名43岁男性颈部前方出现不自主运动。观察到喉骨架、软腭和舌头持续、有节奏的垂直运动以及下肢辨距不良。发现了致病性变异c.994G>A；p.（Glu332Lys）。MRI显示脊髓和延髓萎缩，小脑和脑白质高信号。
喉外、腭咽震颤和小脑共济失调构成了一种轻度表型，正如该变异所预期的那样，本文第三次单独报道。影像学表现与AOAxD一致，包括所谓的蝌蚪征。需要进一步研究来明确这种罕见疾病。
