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Neurological Sciences
Published in: Neurological Sciences 3/2022

01-03-2022 | Tremor | Letter to the Editor

Handwriting impairment in a case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a novel mutation in the CSF1R gene

Authors: Ming-Chen Tsai, Yueh-Feng Sung

Published in: Neurological Sciences | Issue 3/2022

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Excerpt

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurodegenerative disorder affecting white matter caused by mutations in the colony stimulating factor 1 receptor (CSF1R). Clinical manifestations vary, including cognitive impairment, mood disorder, Parkinsonism, movement disorders, and seizures. Patients in early stages of the disease were reported to have neuropsychiatric features and motor and gait disorders [1]. Handwriting impairment as an initial presentation was rarely reported. Herein, we present a young woman who was diagnosed with ALSP with a novel mutation in the CSF1R and had handwriting impairment at disease onset. …
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Literature
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Adams SJ, Kirk A, Auer RN (2018) Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). J Clin Neurosci 48:42–49CrossRef
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Daida K, Nishioka K, Li Y, Nakajima S, Tanaka R, Hattori N (2017) CSF1R mutation p. G589R and the distribution pattern of brain calcification. Intern Med 56:2507–2512CrossRef
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Inzelberg R, Plotnik M, Harpaz NK, Flash T (2016) Micrographia, much beyond the writer’s hand. Parkinsonism Relat Disord 26:1–9CrossRef
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Wu T, Zhang J, Hallett M, Feng T, Hou Y, Chan P (2016) Neural correlates underlying micrographia in Parkinson’s disease. Brain 139:144–160CrossRef
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Metadata
Title
Handwriting impairment in a case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a novel mutation in the CSF1R gene
Authors
Ming-Chen Tsai
Yueh-Feng Sung
Publication date
01-03-2022
Publisher
Springer International Publishing
Keyword
Tremor
Published in
Neurological Sciences / Issue 3/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-021-05819-6

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