Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Associated with the CSF1R p. (Ile843Thr) Variant: Clinical, Imaging, and Molecular Characterization.
Yohei Mima, Hisakazu Nakajima, Masataka Koike et al.
✦ AI-curated · Sources linked
Case in brief
An adult presented with progressive cognitive and behavioral decline, followed by motor dysfunction. MRI showed predominantly frontoparietal white matter lesions and thinning of the corpus callosum, raising concern for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Genetic testing identified the CSF1R p. (Ile843Thr) variant. Functional analysis showed impaired autophosphorylation of the mutant protein, supporting its pathogenicity and the diagnosis of ALSP.
What made this case unusual
The case links ALSP to the CSF1R p. (Ile843Thr) variant, with functional testing demonstrating impaired mutant-protein autophosphorylation.
Diagnostic / clinical pearl
In adult-onset leukoencephalopathy, integrate genetic testing with functional validation when assessing a CSF1R variant; the authors note this is relevant even without a family history.
Why it matters
The case expands the reported CSF1R variant spectrum associated with ALSP.