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NEUROLOGY 2009;72:1953-1959
© 2009 American Academy of Neurology
Views and Reviews

Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD)

A single entity? C. Wider, MD, J. A. Van Gerpen, MD, S. DeArmond, MD, E. A. Shuster, MD, D. W. Dickson, MD and Z. K. Wszolek, MD

From the Departments of Neurology (C.W., J.A.V.G., E.A.S., Z.K.W.) and Neuropathology (D.W.D.), Mayo Clinic, Jacksonville, FL; and Department of Neuropathology (S.D.), University of California, San Francisco.

Address correspondence and reprint requests to Dr. Zbigniew K. Wszolek, Department of Neurology, Cannaday Building 2E, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 wszolek.zbigniew{at}mayo.edu.

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD) present as adult-onset dementia with motor impairment and epilepsy. They are regarded as distinct diseases. We review data from the literature that support their being a single entity. Apart from a slightly older age at onset, a more rapid course, and more prominent pyramidal tract involvement, familial POLD is clinically similar to HDLS. Moreover, the pathologic hallmarks of the two diseases, axonal spheroids in HDLS and pigmented macrophages in POLD, can be identified in both conditions. This supports HDLS and POLD being referred collectively as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

Abbreviations: ALSP = adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; HDLS = hereditary diffuse leukoencephalopathy with axonal spheroids; OLD = orthochromatic leukodystrophy; POLD = pigmentary orthochromatic leukodystrophy.

Supplemental data at www.neurology.org.

C.W. is supported by the Swiss National Science Foundation (PASMP3-123268/1) and the Swiss Parkinson Foundation. Z.K.W. and D.W.D. are supported by the Morris K. Udall NIH/National Institute of Neurological Disorders and Stroke Parkinson Disease Center of Excellence Grant awarded to the Mayo Clinic Jacksonville P50NS40256, by NIH/NIA P01AG017216 and NIH/NIA R01AG015866 grants, and by the Pacific Alzheimer Research Foundation Centre (PARF) C06-01 grant.

Disclosure: The authors report no disclosures.

Received December 16, 2008. Accepted in final form February 27, 2009.