Lynch, DS;
Jaunmuktane, Z;
Sheerin, UM;
Phadke, R;
Brandner, S;
Milonas, I;
Dean, A;
... Houlden, H; + view all
(2016)
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.
Journal of Neurology, Neurosurgery and Psychiatry
, 87
(5)
pp. 512-519.
10.1136/jnnp-2015-310788.
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Abstract
Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of axonal loss, axonal spheroids and variably present pigmented macrophages on pathological examination. It most frequently presents in adulthood with dementia and personality change. HDLS has recently been found to be caused by mutations in the colony stimulating factor-1 receptor (CSF1R) gene.
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