Cognitive dysfunction and symptoms of movement disorders in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Cognitive dysfunction and symptoms of movement disorders in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
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DOI：
10.1016/j.parkreldis.2017.08.018
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发表时间：
2018-01-01
影响因子：
4.1
通讯作者：
Miura, Takeshi
中科院分区：
文献类型：
--
作者：
Ikeuchi, Takeshi;Mezaki, Naomi;Miura, Takeshi
成人型白质脑病是一种临床和遗传异质性疾病，主要影响中枢神经系统的大脑白色物质。临床和神经影像学为基础的方法已经开发出来，以提高诊断过程中的成人发病脑白质病变。然而，鉴别诊断往往具有挑战性。近年来，对脑白质病变遗传基础的认识迅速积累，为脑白质病变的诊断提供了强有力的手段。本文综述了伴轴突球体和色素胶质细胞的成人型白质脑病（ALSP），重点介绍了认知功能障碍和运动障碍症状的临床表现。ALSP是由CSFlR突变引起的显性遗传性白质脑病的亚型。ALSP通常在成年期发生，伴有认知能力下降、精神症状和运动障碍的运动症状。ALSP的认知症状以额叶功能障碍为特征，如执行功能障碍、注意力缺陷和冷漠。运动障碍ALSP的主要运动症状为步态障碍和运动迟缓，可作为首发症状出现。因此，ALSP应被视为认知障碍和运动障碍。(C)2017爱思唯尔有限公司版权所有
Adult-onset leukoencephalopathies are clinically and genetically heterogeneous disorders that affect predominantly the cerebral white matter of the central nervous system. Clinical and neuroimaging-based approaches have been developed to improve diagnostic processes for adult-onset leukoencephalopathies. However, the differential diagnosis is often challenging. Recently, knowledge of the genetic basis of leukoencephalopathies has been accumulated rapidly, which provides powerful diagnostic approaches. The article provides an overview of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), focusing on the clinical presentations of cognitive impairment and symptoms of movement disorders. ALSP is a subtype of dominantly inherited leukoencephalopathy caused by CSFIR mutations. ALSP typically develop in adulthood, with cognitive decline, psychiatric symptoms, and motor symptoms of movement disorders. Cognitive symptoms in ALSP are characterized by frontal lobe dysfunctions such as executive dysfunction, attention deficits and indifference. The cardinal motor symptoms of movement disorders ALSP were gait disturbance and bradykinesia, which may appear as the initial symptoms. Thus, ALSP should be recognized as both a cognitive disorder and a movement disorder. (C) 2017 Elsevier Ltd. All rights reserved.