Document Detail

Adult-Onset Leukodystrophy: Review of 3 Clinicopathologic Phenotypes and a Proposed Classification.
MedLine Citation:
PMID:  24128683     Owner:  NLM     Status:  Publisher    
Adult-onset leukodystrophies are clinically and pathologically heterogeneous diseases, and the overlapping morphologic features among these disorders can lead to confusion in pathologic classification. We report 3 recent autopsy cases that illustrate the clinicopathologic distinction between the 3 entities. The first, autosomal dominant leukodystrophy, is characterized clinically by early autonomic dysfunction and genetically by LMNB1 (lamin B1 gene) duplication. Recently, another clinical subtype emerged without the early autonomic dysfunction but with a similar genetic abnormality documented in 1 family. We reviewed the reported autopsy cases and show that both clinical subtypes share distinctive pathologic features. Other forms of adult-onset leukodystrophy can be classified based on the histologic evidence of the primary pathologic processes. A case of axonopathy with secondary demyelination serves as a prototype for adult-onset leukoencephalopathy/leukodystrophy with axonal spheroids; the genetic mutation of CSF1R (colony stimulating factor 1R) was recently discovered in patients with this disorder. A case of a primary demyelinating disease with no other distinctive pathologic features is designated as orthochromatic leukodystrophy. Pigmented glia can be present in both of the latter two categories and should not be used as a differentiating diagnostic feature. Based on the observations of our cases and literature review, we propose an algorithm for a practical diagnostic approach to adult-onset leukodystrophies.
Murad Alturkustani; Manas Sharma; Robert Hammond; Lee-Cyn Ang
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-10-14
Journal Detail:
Title:  Journal of neuropathology and experimental neurology     Volume:  -     ISSN:  1554-6578     ISO Abbreviation:  J. Neuropathol. Exp. Neurol.     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-10-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985192R     Medline TA:  J Neuropathol Exp Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
From the Departments of Pathology (Neuropathology) (MA, RH, L-CA) and Medical Imaging (MS), London Health Sciences Centre and Western University, London, Ontario, Canada; and Department of Pathology, King Abdulaziz University and Hospital, Jeddah, Kingdom of Saudi Arabia (MA).
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