Pontine autosomal dominant microangiopathy with leukoencephalopathy
A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes often with a predilection for the pons with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal bulbar and cerebellar symptoms among others. Brain imaging shows multiple lacunar infarcts typically with involvement of the pons as well as variable leukoencephalopathy of the cerebral hemispheres.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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Pontine autosomal dominant microangiopathy with leukoencephalopathy?
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