原发性震颤
医学
下橄榄核
神经学
构音障碍
意向性震颤
共济失调
解剖
步态共济失调
神经科学
心理学
听力学
物理医学与康复
小脑
内科学
作者
Jason R. Sebesto,Jay A. van Gerpen
出处
期刊:Neurology
[Ovid Technologies (Wolters Kluwer)]
日期:2016-06-14
卷期号:86 (24)
被引量:7
标识
DOI:10.1212/wnl.0000000000002763
摘要
A 67-year-old man presented with a several-year history of progressive gait ataxia, dysarthria, and a 2-Hz palatal tremor (video on the Neurology ® Web site at [Neurology.org][1]). He did not have corticospinal tract signs. Cranial MRI revealed hypertrophic olivary degeneration on T2-weighted images (figure). Genetic testing revealed a transition C > T, nucleotide position 235, codon 79, resulting in an arginine > cysteine change, which is a known pathogenic DNA sequence variant within the glial fibrillary acidic protein gene, confirming adult-onset Alexander disease. Symptomatic palatal tremor (SPT) results from a lesion within the dentato-rubral-olivary tracts. SPT is produced by contraction of the levator veli palatini and is usually accompanied by other neurologic signs. Essential palatal tremor, an idiopathic tremor of the tensor veli palatini, has a similar appearance to SPT, but is accompanied by a clicking sound within the ear and without additional neurologic deficits. [1]: http://neurology.org/lookup/doi/10.1212/WNL.0000000000002763
科研通智能强力驱动
Strongly Powered by AbleSci AI