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Article

CSF1R mutations link POLD and HDLS as a single disease entity.

Neurology - 12 Mar 2013

Nicholson Alexandra M, Baker Matt C, Finch Nicole A, Rutherford Nicola J, Wider Christian, Graff-Radford Neill R, Nelson Peter T, Clark H Brent, Wszolek Zbigniew K, Dickson Dennis W, Knopman David S, Rademakers Rosa

Abstract excerpt

OBJECTIVE: Pigmented orthochromatic leukodystrophy (POLD) and hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) are rare neurodegenerative disorders characterized by cerebral white matter abnormalities, myelin loss, and axonal swellings. The striking overlap of clinical and pathologic features of these disorders suggested a common pathogenesis; however, no genetic or mechanistic link between...

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Identifiers

PMID: 23408870
DOI: 10.1212/WNL.0b013e31828726a7
PMCID: PMC3653204

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Source receipt: pubmed, retrieved 7 Sept 2026.

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