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KMID : 1197720170100010059
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대한파킨슨병 및 이상운동질환 학회지
2017 Volume.10 No. 1 p.59 ~ p.61
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Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids
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Blume Josefine
Weissert Robert
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Abstract
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Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is probably an under-recognized disease. HDLS should be considered in patients with rapidly progressing parkinsonian symptoms and dementia accompanied by white matter lesions.
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KEYWORD
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Hereditary diffuse leukoencephalopathy with spheroids, parkinsonism, leukoencephalopathy, colony-stimulating factor 1 receptor
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