Hereditary diffuse leucoencephalopathy with spheroids

被引:34
作者
Hancock, N
Poon, M
Taylor, B
McLean, C
机构
[1] Royal Hobart Hosp, Dept Gen Internal Med, Hobart, Tas 7001, Australia
[2] Western Hosp, Dept Neurol, Melbourne, Vic, Australia
[3] Royal Hobart Hosp, Dept Neurol, Hobart, Tas, Australia
[4] Univ Melbourne, Natl Hlth & Med Res Council, Dementia Brain Bank, Melbourne, Vic, Australia
[5] Monash Univ, Alfred Hosp, Melbourne, Vic 3181, Australia
关键词
D O I
10.1136/jnnp.74.9.1345
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Hereditary diffuse leucoencephalopathy with spheroids (HDLS) is a rare inherited progressive leucoencephalopathy characterised by giant neuroaxonal swellings (spheroids) within the CNS white matter. The case is reported of a 45 year old woman with a rapidly progressive fulminant illness course characterised by progressive cognitive decline with depressive features. A presumed dominant inheritance pattern was elicited. This report reviews the literature on HDLS and the relation of this disorder to other conditions with giant neuroaxonal swellings.
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页码:1345 / 1347
页数:3
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