Erschienen in:
13.01.2022 | 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
verfasst von:
Ming-Chen Tsai, Yueh-Feng Sung
Erschienen in:
Neurological Sciences
|
Ausgabe 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. …