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Case Report
- Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids
- Josefine Blume, Robert Weissert
- J Mov Disord. 2017;10(1):59-61. Published online December 27, 2016
- DOI: https://doi.org/10.14802/jmd.16050
- 11,210 View
- 118 Download
- 6 Web of Science
- 6 Crossref
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Abstract
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Supplementary Material - 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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Citations
Citations to this article as recorded by
- Late-onset CSF1R-related Disorder: A Case Report
Lixue Chen, Haoyou Xu, Zhifu Lu
Cognitive and Behavioral Neurology.2025;[Epub] CrossRef - Suspected Postpartum Depression Revealed to be CSF1R-Related Leukoencephalopathy: A Case Report
Masahiko Mikuni, Kazuhiro Horiuchi, Ayako Ishikura, Soichiro Kimura, Sho Masutani, Shinya Watanabe, Akihiro Mikami, Shuhei Ishikawa, Hisashi Narita, Ichiro Kusumi, Hidenao Sasaki
Case Reports in Neurology.2024; 16(1): 281. CrossRef - Modeling CSF‐1 receptor deficiency diseases – how close are we?
Violeta Chitu, Şölen Gökhan, E. Richard Stanley
The FEBS Journal.2022; 289(17): 5049. CrossRef - Neuroimaging phenotypes of CSF1R‐related leukoencephalopathy: Systematic review, meta‐analysis, and imaging recommendations
Goda‐Camille Mickeviciute, Monika Valiuskyte, Michael Plattén, Zbigniew K. Wszolek, Oluf Andersen, Virginija Danylaité Karrenbauer, Benjamin V. Ineichen, Tobias Granberg
Journal of Internal Medicine.2022; 291(3): 269. CrossRef - A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature
Jie Chen, Shiying Luo, Ning Li, Huimin Li, Jinming Han, Li Ling
International Journal of General Medicine.2020; Volume 13: 1613. CrossRef -
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Takuya Konno, Koji Kasanuki, Takeshi Ikeuchi, Dennis W. Dickson, Zbigniew K. Wszolek
Neurology.2018; 91(24): 1092. CrossRef
- Late-onset CSF1R-related Disorder: A Case Report
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