Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids
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 dep...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Korean Movement Disorder Society
2017-01-01
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| Series: | Journal of Movement Disorders |
| Subjects: | |
| Online Access: | http://e-jmd.org/upload/jmd-16050.pdf |
| _version_ | 1797760890118864896 |
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| author | Josefine Blume Robert Weissert |
| author_facet | Josefine Blume Robert Weissert |
| author_sort | Josefine Blume |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T19:05:03Z |
| format | Article |
| id | doaj.art-3a9766c2cada48dcbde248d2b4211642 |
| institution | Directory Open Access Journal |
| issn | 2005-940X 2093-4939 |
| language | English |
| last_indexed | 2024-03-12T19:05:03Z |
| publishDate | 2017-01-01 |
| publisher | Korean Movement Disorder Society |
| record_format | Article |
| series | Journal of Movement Disorders |
| spelling | doaj.art-3a9766c2cada48dcbde248d2b42116422023-08-02T06:17:08ZengKorean Movement Disorder SocietyJournal of Movement Disorders2005-940X2093-49392017-01-01101596110.14802/jmd.16050176Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with SpheroidsJosefine BlumeRobert WeissertEarly 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.http://e-jmd.org/upload/jmd-16050.pdfHereditary diffuse leukoencephalopathy with spheroidsparkinsonismleukoencephalopathycolony-stimulating factor 1 receptor |
| spellingShingle | Josefine Blume Robert Weissert Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids Journal of Movement Disorders Hereditary diffuse leukoencephalopathy with spheroids parkinsonism leukoencephalopathy colony-stimulating factor 1 receptor |
| title | Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids |
| title_full | Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids |
| title_fullStr | Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids |
| title_full_unstemmed | Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids |
| title_short | Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids |
| title_sort | suspected perinatal depression revealed to be hereditary diffuse leukoencephalopathy with spheroids |
| topic | Hereditary diffuse leukoencephalopathy with spheroids parkinsonism leukoencephalopathy colony-stimulating factor 1 receptor |
| url | http://e-jmd.org/upload/jmd-16050.pdf |
| work_keys_str_mv | AT josefineblume suspectedperinataldepressionrevealedtobehereditarydiffuseleukoencephalopathywithspheroids AT robertweissert suspectedperinataldepressionrevealedtobehereditarydiffuseleukoencephalopathywithspheroids |