TY - JOUR
T1 - Progressive familial leukodystrophy of late onset
AU - Knopman, David
AU - Sung, Joo Ho
AU - Davis, Daron
PY - 1996/2
Y1 - 1996/2
N2 - 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.
AB - 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.
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U2 - 10.1212/WNL.46.2.429
DO - 10.1212/WNL.46.2.429
M3 - Article
C2 - 8614507
AN - SCOPUS:9044243020
SN - 0028-3878
VL - 46
SP - 429
EP - 434
JO - Neurology
JF - Neurology
IS - 2
ER -