Document Detail


MRI features of pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL).
MedLine Citation:
PMID:  19187480     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND AND PURPOSE: Cerebral small vessel disease is a topic of growing interest for both the scientific community and the aging society. We report the magnetic resonance imaging (MRI) characteristics of a recently found autosomal dominantly inherited microangiopathy. METHODS: Eighteen members (35 to 77 years) of a large German family underwent MR scanning with a standardized MRI protocol for cerebrovascular diseases. Images were evaluated independently by two neuroradiologists. RESULTS: Six family members revealed an unequivocally pathological phenotype on MRI with lacunar infarcts of the pons (6/6) and lesions of the subcortical and periventricular white matter (5/6). Lesions in the temporal lobes (1/6) and cerebral microbleeds (1/6) were uncommon. None of the patients revealed atherosclerotic changes in MR angiography. Retrospective analysis of 5 brain autopsies from previously reported patients of the same family confirmed the regular involvement of the pons. CONCLUSION: This cerebral autosomal dominant arteriopathy with pontine infarcts and leukoencephalopathy is characterized by a special lesion pattern strikingly different from CADASIL. The distinct MRI characteristics with pontine lesions and rare occurrence of temporal lesions argue for a new nosological entity and may be helpful for the differential diagnosis.
Authors:
Xiao-Qi Ding; Christian Hagel; E Bernd Ringelstein; Stefan Buchheit; Hermann Zeumer; Gregor Kuhlenbäumer; Silke Appenzeller; Jens Fiehler
Publication Detail:
Type:  Journal Article     Date:  2009-01-29
Journal Detail:
Title:  Journal of neuroimaging : official journal of the American Society of Neuroimaging     Volume:  20     ISSN:  1552-6569     ISO Abbreviation:  J Neuroimaging     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-05-21     Completed Date:  2010-09-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102705     Medline TA:  J Neuroimaging     Country:  United States    
Other Details:
Languages:  eng     Pagination:  134-40     Citation Subset:  IM    
Affiliation:
Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, University of Hamburg, Germany. Ding.Xiaoqi@mh-hannover.de
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Cerebrovascular Disorders / genetics*,  pathology*
Chromosome Disorders / genetics*,  pathology*
Dementia, Vascular / genetics*,  pathology*
Female
Humans
Magnetic Resonance Imaging / methods*
Male
Middle Aged
Syndrome

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