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Fig. 1 | Translational Neurodegeneration

Fig. 1

From: An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia

Fig. 1

Radiological, pathological and genetic characteristics of AARS1-AR-ALSP, CSF1R-ALSP and AARS2-ALSP. a–g Sagittal and transverse view of neuroimaging. h–n Immunohistochemistry of brain biopsy. *, swollen neurons; red triangles, axonal spheroids; #, PAS-, CD68- or p62-positive microglia. o–p Genetic features of the family. q Predicted protein structures of  wild-type, p.Thr606Ile- and p.Cys152Phe-mutant AlaRS predicted by i-TASSER. Blue: aminoacylation domain; grey: tRNA recognition domain; light orange: editing domain; orange: C-terminal. r Diagram of AARS1 structure with reported mutations. Purple, DEE29-related variants; red, AARS1-AR-ALSP; black, CMT2N; green, AARS1-AD-ALSP

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Translational Neurodegeneration

ISSN: 2047-9158

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