Tolosa E, Berciano J
Neurology Service, Hospital Clinico, University of Barcelona, Spain.
Curr Opin Neurol Neurosurg. 1993 Jun;6(3):358-68.
Developments in the field of Huntington's disease have focused on the potential benefits of predictive testing. Markers have been described for autosomal dominant cerebellar ataxia and for certain subtypes of Friedrich's ataxia. Argentophilic neuronal and glial inclusions appear to be the first specific pathologic hallmark of multiple system atrophy. "Pure" hereditary spastic paraplegia is not a multisystem disorder of the central nervous system, but a monomorphic and stereotyped disease. Advances in Tourette's syndrome are limited because the presumed gene eludes identification. A new type of myoclonus, propiospinal myoclonus, has been described. Clinical and electrophysiologic criteria for defining primary orthostatic tremor have been proposed. Understanding of the neurophysiologic substrate of essential tremor and myoclonus is improving. New neurologic disorders presenting clinically with prominent movement disorder continue to be described.
亨廷顿舞蹈症领域的进展集中在预测性检测的潜在益处上。已描述了常染色体显性小脑共济失调以及某些弗里德赖希共济失调亚型的标志物。嗜银性神经元和神经胶质包涵体似乎是多系统萎缩的首个特定病理标志。“纯”遗传性痉挛性截瘫并非中枢神经系统的多系统疾病，而是一种单形性和刻板性疾病。抽动秽语综合征的进展有限，因为假定的基因难以识别。已描述了一种新型肌阵挛，即脊髓性肌阵挛。已提出了定义原发性直立性震颤的临床和电生理标准。对特发性震颤和肌阵挛的神经生理基础的理解正在不断提高。临床上以明显运动障碍为特征的新的神经系统疾病仍在不断被描述。
