A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal-dominant progressive leukodystrophy, caused by mutations of colony stimulating factor-1 receptor (CSF1R) gene. Age of onset is usually between 40 and 50 years old and the clinical presentations includ...
| Main Authors: | , , |
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Rare Diseases
2022-04-01
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| Series: | 罕见病研究 |
| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.02.014 |
| _version_ | 1797369830955810816 |
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| author | SHA Yuhui ZHANG Junyi NI Jun |
| author_facet | SHA Yuhui ZHANG Junyi NI Jun |
| author_sort | SHA Yuhui |
| collection | DOAJ |
| description | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal-dominant progressive leukodystrophy, caused by mutations of colony stimulating factor-1 receptor (CSF1R) gene. Age of onset is usually between 40 and 50 years old and the clinical presentations include dementia, apraxia, behavioral changes, pyramidal and extrapyramidal signs. Varying clinical manifestations have led to misdiagnoses. Magnetic resonance imaging (MRI) typically reveals white matter changes with T2-Flair/DWI hyperintensity and atrophy especially for thinning of the corpus callosum. Here, we report a young woman experiencing hypomnesia for 2 years with lower extremities weakness and rigidity for 1 month. Considering the evidence of clinical manifestations, imaging and genetic test, this patient was diagnosed with ALSP. |
| first_indexed | 2024-03-08T17:52:35Z |
| format | Article |
| id | doaj.art-de473fb288ff481ca6c99755445de3a9 |
| institution | Directory Open Access Journal |
| issn | 2097-0501 |
| language | zho |
| last_indexed | 2024-03-08T17:52:35Z |
| publishDate | 2022-04-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj.art-de473fb288ff481ca6c99755445de3a92024-01-02T07:14:32ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012022-04-011219619810.12376/j.issn.2097-0501.2022.02.014A Young Woman with Leukoencephalopathy and Significant Corpus Callosum AtrophySHA Yuhui0ZHANG Junyi1NI JunDepartment of Neurology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Neurology, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal-dominant progressive leukodystrophy, caused by mutations of colony stimulating factor-1 receptor (CSF1R) gene. Age of onset is usually between 40 and 50 years old and the clinical presentations include dementia, apraxia, behavioral changes, pyramidal and extrapyramidal signs. Varying clinical manifestations have led to misdiagnoses. Magnetic resonance imaging (MRI) typically reveals white matter changes with T2-Flair/DWI hyperintensity and atrophy especially for thinning of the corpus callosum. Here, we report a young woman experiencing hypomnesia for 2 years with lower extremities weakness and rigidity for 1 month. Considering the evidence of clinical manifestations, imaging and genetic test, this patient was diagnosed with ALSP.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.02.014adult-onset leukoencephalopathy with axonal spheroids and pigmented gliamagnetic resonance imaginggene mutationcolony stimulating factor-1 receptor |
| spellingShingle | SHA Yuhui ZHANG Junyi NI Jun A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy 罕见病研究 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia magnetic resonance imaging gene mutation colony stimulating factor-1 receptor |
| title | A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy |
| title_full | A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy |
| title_fullStr | A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy |
| title_full_unstemmed | A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy |
| title_short | A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy |
| title_sort | young woman with leukoencephalopathy and significant corpus callosum atrophy |
| topic | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia magnetic resonance imaging gene mutation colony stimulating factor-1 receptor |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.02.014 |
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