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Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13650
Abstract: Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurodegenerative disorder with characteristic clinicopathological features. Identification of pathogenic mutations in CSF1R, AARS1, and AARS2 genes led to increased recognition and diagnosis of…
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Keywords:
leukoencephalopathy axonal;
adult onset;
onset leukoencephalopathy;
axonal spheroids ... See more keywords
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Published in 2021 at "Journal of comparative pathology"
DOI: 10.1016/j.jcpa.2021.10.005
Abstract: A 7-year-old male Thoroughbred horse exhibited recurrent falls followed by convulsive seizures. The horse was clinically diagnosed with epilepsy and phenobarbital treatment was initiated. However, as seizure control was unsuccessful, the animal was euthanized. At…
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Keywords:
glia horse;
convulsive seizures;
pigmented glia;
leucoencephalopathy pigmented ... See more keywords
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Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.788168
Abstract: A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented…
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Keywords:
leukoencephalopathy axonal;
adult onset;
onset leukoencephalopathy;
axonal spheroids ... See more keywords
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Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_1077_21
Abstract: Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal dominant neurodegenerative disease resulting from heterozygous mutations in the colony‐stimulating factor 1 receptor gene.[1] ALSP is a challenging diagnosis in the absence…
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Keywords:
leukoencephalopathy axonal;
adult onset;
onset leukoencephalopathy;
axonal spheroids ... See more keywords