Progressive familial leukodystrophy of late onset

David Knopman, Joo Ho Sung, Daron Davis

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


We report a family in which three siblings developed dementia between the ages of 40 and 70 years. Two of the siblings developed symptoms of depression, abnormal behavior, and an inability to function, progressing to severe dementia. The third sibling had a severe dementia, the clinical details of which are not available. In the two deceased siblings, neuropathologic examinations demonstrated severe demyelination, axon loss, and gliosis in cerebral white matter. Cerebellar and brainstem white matter were unaffected. Cerebral gray matter was negligibly affected. The disorder, histopathologically classified as a pigmented orthochromatic leukodystrophy, is extremely rare. Its etiology is unknown, but the pathology and familial occurrence imply that it represents a genetic defect in a function localized in the cerebral white matter.

Original languageEnglish (US)
Pages (from-to)429-434
Number of pages6
Issue number2
StatePublished - Feb 1996

ASJC Scopus subject areas

  • Clinical Neurology


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