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01-12-2020 | CADASIL | Short reports

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

Authors: Don Gueu Park, Je Hong Min, Seong hyang Sohn, Young Bae Sohn, Jung Han Yoon

Published in: The Cerebellum | Issue 6/2020

Abstract

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.

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Title: Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review
Authors: Don Gueu Park
Je Hong Min
Seong hyang Sohn
Young Bae Sohn
Jung Han Yoon
Publication date: 01-12-2020
Publisher: Springer US
Keywords: CADASIL
Magnetic Resonance Imaging
Magnetic Resonance Imaging
Dysarthria
Migraine
Published in: The Cerebellum / Issue 6/2020
Print ISSN: 1473-4222
Electronic ISSN: 1473-4230
DOI: https://doi.org/10.1007/s12311-020-01173-z

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

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