Progressive familial leukodystrophy of late onset

Neurology
David S KnopmanD Davis

Abstract

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.

Citations

Feb 13, 2001·Journal of the Neurological Sciences·A TagawaN Shimizu
Oct 12, 2011·Dementia and Geriatric Cognitive Disorders·Janice C WongLili-Naz Hazrati
Nov 28, 2002·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J VergheseI Rapin
Oct 17, 2013·Journal of Neuropathology and Experimental Neurology·Murad AlturkustaniLee-Cyn Ang
Jun 16, 2010·Journal of the Neurological Sciences·Sung-Yeon SohnSo Young Moon
May 26, 2005·Brain Pathology·Maria Teresa GiordanaMaria Teresa Rinaudo
Mar 23, 2011·Neuropathology and Applied Neurobiology·K TanM E Buckland
Nov 3, 1998·Prehospital Emergency Care : Official Journal of the National Association of EMS Physicians and the National Association of State EMS Directors·C S KidwellS Starkman
May 22, 1998·Stroke; a Journal of Cerebral Circulation·J Lodder
Oct 24, 1998·The Journal of Cardiovascular Nursing·N H Hock
Jun 24, 2017·Acta Neuropathologica·Marjo S van der Knaap, Marianna Bugiani

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