PDF(Pubmed)
Abstract：
UNASSIGNED: 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 palatopharyngeal tremor and AOAxD.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■亚历山大病是由GFAP突变引起的，胶质纤维酸性蛋白基因。在成人发作的亚历山大病（AOAxD）中尚未报道喉外震颤。这项工作的目的是报告一个这样的病例，并回顾有关腭咽震颤和AOAxD的文献。
■一名43岁的男子经历了颈部前方的不自主运动。连续,喉骨骼有节奏的垂直运动，软腭和舌头，观察下肢发育不良。发现致病性GFAP变体c.994G>A;p.(Glu332Lys)。MRI显示小脑和脑白质的脊髓和延髓萎缩和高信号。
■喉外,腭咽震颤和小脑共济失调构成轻度表型，正如预期的那样，本文第三次单独报道。成像与AOAxD一致,包括所谓的t标志。需要进一步的研究来定义这种罕见的疾病。
■一名43岁的男子经历了颈部前方的不自主运动。连续,喉骨骼有节奏的垂直运动，软腭和舌头，观察下肢发育不良。发现致病性GFAP变体c.994G>A;p.(Glu332Lys)。MRI显示小脑和脑白质的脊髓和延髓萎缩和高信号。
■喉外,腭咽震颤和小脑共济失调构成轻度表型，正如预期的那样，本文第三次单独报道。成像与AOAxD一致,包括所谓的t标志。需要进一步的研究来定义这种罕见的疾病。
