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Erschienen in: Acta Neuropathologica 6/2004

01.06.2004 | Regular Paper

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature

verfasst von: Jonathan D. Marotti, Sharon Tobias, Jonathan D. Fratkin, James M. Powers, C. Harker Rhodes

Erschienen in: Acta Neuropathologica | Ausgabe 6/2004

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Abstract

We present a two-generation family consisting of a father and two daughters, who had an adult-onset leukodystrophy characterized by widespread destruction of cerebral white matter with neuroaxonal spheroids. The mode of inheritance appears to be autosomal dominant. All three patients presented with a variety of motor and cognitive symptoms, including frontal lobe signs, 4–7 years before death. Each followed a chronic course until death at ages 39, 46, and 51. At autopsy, the white matter loss was widespread but most prominent in the cerebrum with descending corticospinal tract degeneration and relative sparing of subcortical U-fibers. Pigmented glial cells were present, most of which appear to be macrophages, but inconstantly Prussian blue-positive. This disease is consistent with published reports of hereditary diffuse leukoencephalopathy with spheroids (HDLS). However, a review of the literature and a personal review of the neuropathology of the original case of the pigmentary type of orthochromatic leukodystrophy (POLD) reveal overlapping clinical and neuropathologic features between these two previously distinct entities, suggesting a common pathogenetic and perhaps etiological relationship between the two.
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Metadaten
Titel
Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature
verfasst von
Jonathan D. Marotti
Sharon Tobias
Jonathan D. Fratkin
James M. Powers
C. Harker Rhodes
Publikationsdatum
01.06.2004
Verlag
Springer-Verlag
Erschienen in
Acta Neuropathologica / Ausgabe 6/2004
Print ISSN: 0001-6322
Elektronische ISSN: 1432-0533
DOI
https://doi.org/10.1007/s00401-004-0847-x

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