Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR findings

To describe the MR appearances of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. MR examinations were performed on 15 family members (both symptomatic and asymptomatic). The phenotype was defined by the presence of abnormalities on MR scanning in genetica...

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Bibliographic Details
Published in:American journal of neuroradiology : AJNR 1995-11, Vol.16 (10), p.2115-2119
Main Authors: Skehan, SJ, Hutchinson, M, MacErlaine, DP
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Brain - pathology
Cerebral Infarction - diagnosis
Cerebral Infarction - genetics
Chromosome Aberrations - diagnosis
Chromosome Aberrations - genetics
Chromosome Disorders
Chromosomes, Human, Pair 19
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dementia - genetics
Demyelinating Diseases - diagnosis
Demyelinating Diseases - genetics
Female
Genes, Dominant
Humans
Magnetic Resonance Imaging
Male
Medical sciences
Middle Aged
Migraine Disorders - diagnosis
Migraine Disorders - genetics
Neurology
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Summary:To describe the MR appearances of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. MR examinations were performed on 15 family members (both symptomatic and asymptomatic). The phenotype was defined by the presence of abnormalities on MR scanning in genetically susceptible individuals. There were 10 abnormal and 5 normal MR scans. Three subjects with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy had moderate or severe neurologic deficits, 4 had transient focal neurologic symptoms, 2 had migraine, and 1 was asymptomatic (all these had abnormal MR scans). Only 1 subject with migraine had a normal MR. Four other asymptomatic family members had normal scans. Two main abnormalities emerged. First, small, linear, and punctate lesions were identified in the periventricular white matter, brain stem, basal ganglia, and thalamus. Second, large confluent patches of abnormal tissue were present in subcortical regions that often were symmetric and had a tendency to occur in the temporal lobes. The diffuse myelin loss and small infarcts that cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy are well demonstrated with MR. Presymptomatic abnormalities can be seen on MR.
ISSN:0195-6108
1936-959X