Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review.
Don Gueu ParkJe Hong MinSeong Hyang SohnYoung Bae SohnJung Han YoonPublished in: Cerebellum (London, England) (2021)
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.
Keyphrases
- early onset
- white matter
- magnetic resonance imaging
- cognitive decline
- multiple sclerosis
- systematic review
- contrast enhanced
- electron microscopy
- computed tomography
- cell proliferation
- single cell
- bipolar disorder
- gene expression
- magnetic resonance
- subarachnoid hemorrhage
- copy number
- physical activity
- genome wide
- brain injury
- soft tissue
- transcription factor
- sleep quality
- adverse drug
- resting state
- functional connectivity