Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies

被引:5
作者
Ayrignac, Xavier [1 ,2 ]
Boutiere, Clemence [3 ]
Carra-dalliere, Clarisse [1 ]
Labauge, Pierre [1 ]
机构
[1] CHU Montpellier, Hop Gui De Chauliac, Serv Neurol, 80 Av Augustin FLICHE, F-34295 Montpellier, France
[2] Hop St Eloi, Inserm UMR1051, INM, Montpellier, France
[3] Hop La Timone, APHM, Serv Neurol, Pole Neurosci Clin, Marseille, France
关键词
Leukodystrophy; Leukoencephalopathy; Genetic; White matter disease; MRI; AUTOSOMAL-DOMINANT LEUKODYSTROPHY; PROGRESSIVE MULTIPLE-SCLEROSIS; X-LINKED ADRENOLEUKODYSTROPHY; POLYGLUCOSAN BODY DISEASE; MR-IMAGING ABNORMALITIES; VANISHING WHITE-MATTER; SMALL VESSEL DISEASE; COL4A1; MUTATIONS; BRAIN-STEM; SUBCORTICAL INFARCTS;
D O I
10.1007/s00415-016-8131-2
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Adult-onset genetic leukoencephalopathies are increasingly recognized. They are heterogeneous groups of disorders that commonly have distinct pathologic mechanisms but they share the presence of supratentorial bilateral and symmetric white matter hyperintensities. Although these abnormalities are usually non-specific, some specific MRI findings exist and sometimes help to distinguish these disorders. In this review, our aim is to describe posterior fossa abnormalities seen in the main adult-onset genetic leukoencephalopathies enabling clinicians to perform oriented genetic/metabolic screening.
引用
收藏
页码:2361 / 2368
页数:8
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