进行性共济失调和腭震颤的临床病理相关性：一种新型tau蛋白病。
Clinico-Pathological Correlation in Progressive Ataxia and Palatal Tremor: A Novel Tauopathy.
作者信息
Mari Zoltan, Halls Andrew J M, Vortmeyer Alexander, Zhukareva Victoria, Uryu Kunihiro, Lee Virginia M-Y, Hallett Mark
机构信息
Human Motor Control Section Medical Neurology Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland USA.
Department of Neurology Johns Hopkins University School of Medicine Baltimore Maryland USA.
出版信息
Mov Disord Clin Pract. 2014 Apr 10;1(1):50-56. doi: 10.1002/mdc3.12014. eCollection 2014 Apr.
Abstract
Palatal tremor (PT) is an uncommon movement disorder that has been subdivided into essential and symptomatic forms. A distinct subgroup of the symptomatic form presents with progressive ataxia and PT. The histopathology of progressive ataxia and PT has not been previously determined. This study consisted of a clinical review, histopathology, and electron microscopy of the brain of a man with progressive ataxia and PT. The inferior olivary hypertrophy was symmetrical and homogenous, and no focal pathologic lesions could be identified in the brainstem. Insoluble tau deposits were found in neurons, exclusively infratentorially. We present the clinical and pathological evaluation of a case of progressive ataxia and PT that provide evidence for a unique form of 4R tauopathy.
摘要
腭震颤（PT）是一种罕见的运动障碍，已被细分为原发性和症状性两种形式。症状性形式的一个独特亚组表现为进行性共济失调和PT。进行性共济失调和PT的组织病理学以前尚未确定。本研究包括对一名患有进行性共济失调和PT的男性患者的临床回顾、组织病理学和脑电镜检查。下橄榄核肥大是对称且均匀的，脑干中未发现局灶性病理病变。在神经元中发现了不溶性tau蛋白沉积，仅位于幕下。我们展示了一例进行性共济失调和PT病例的临床和病理评估，为一种独特形式的4R tau蛋白病提供了证据。
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