Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL

Acta Neuropathologica
C HagelH J Colmant

Abstract

A cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is described with a pedigree suggestive for an autosomal dominant condition. In contrast to the vasculopathy designated with the acronym CADASIL, no deposits of granular osmiophilic material were detected in the vasculature and no point mutations in the NOTCH 3 gene were found. The disease occurred in a family living near Hamburg, Germany, and affected 11 women and 11 men over the last six generations. Onset of the disease was between the age of 12 and 50. Clinical symptoms included gait disturbances, dysarthria, sensomotoric deficits and a progressive dementia. Migraine-like complaints and epileptic seizures were observed in one case each. Cranial computer tomography and magnetic resonance imaging scans showed large confluent areas with decreased density in the white matter and small necroses in the brain stem, the basal ganglia and the white matter. A correlation with factors predisposing for vascular diseases could not be demonstrated. In five cases an autopsy was performed which disclosed an angiopathy affecting predominantly the penetrating arteries with consecutive lacunar infarcts, diffuse demyelination and rarefication of the subcortical white mat...Continue Reading

Citations

Sep 21, 2010·Journal of the Neurological Sciences·E Bernd RingelsteinMartin A Ritter
Nov 11, 2010·Neuropathology and Applied Neurobiology·Y YamamotoR N Kalaria
Feb 4, 2009·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Xiao-Qi DingJens Fiehler
Dec 15, 2015·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Leif ØstergaardKeith W Muir
Jul 21, 2021·Brain & Development·Yuko NakamuraYoshihiro Maegaki

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