Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. Ataxia has seldom been reported as a presenting symptom. Here, we review reports of CADASIL presenting as ata...

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Bibliographic Details
Published in:Cerebellum (London, England) England), 2020-12, Vol.19 (6), p.907-910
Main Authors: Park, Don Gueu, Min, Je Hong, Sohn, Seong hyang, Sohn, Young Bae, Yoon, Jung Han
Format: Article
Language:English
Subjects:
Ataxia
Biomedical and Life Sciences
Biomedicine
Biopsy
Case reports
Cerebellar ataxia
Cerebellum
Cognitive ability
Electron microscopy
Genetic screening
Headache
Leukoencephalopathy
Literature reviews
Magnetic resonance imaging
Migraine
Mood
Neurobiology
Neuroimaging
Neurology
Neurosciences
Notch3 protein
Short Reports
Substantia alba
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Summary:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. Ataxia has seldom been reported as a presenting symptom. Here, we review reports of CADASIL presenting as ataxia and compare these to the first pathologically confirmed case of CADASIL presenting with progressive ataxia. A 50-year-old woman presented with progressive truncal ataxia. Brain magnetic resonance imaging (MRI) revealed white matter hyperintensities in the bilateral anterior temporal lobes, external capsules, and periventricular areas, but not the cerebellum. Electron microscopy of skin biopsy material revealed multiple granular osmiophilic materials. Genetic testing confirmed a c.4552C > A mutation in exon 25 of the NOTCH3 gene. CADASIL is a rare cause of progressive ataxia, and only four cases of CADASIL presenting with ataxia have been reported in the literature. We also discuss the possible pathophysiology of cerebellar ataxia associated with CADASIL.
ISSN:1473-4222
1473-4230
DOI:10.1007/s12311-020-01173-z