Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review
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SHORT REPORTS
Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review Don Gueu Park 1 & Je Hong Min 1 & Seong hyang Sohn 2 & Young Bae Sohn 3 & Jung Han Yoon 1
# Springer Science+Business Media, LLC, part of Springer Nature 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. Keywords CADASIL . NOTCH3 . Exon 25 . Leu1518Met . Ataxia . Granular osmiophilic material
Introduction
Case Report
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. However, ataxia has rarely been reported as presenting symptom [1, 2]. Here, we report the first pathologically confirmed CADASIL patient with progressive ataxia, and we review ataxia associated with CADASIL.
A 50-year-old woman presented with a 3-month history of progressive gait difficulties in the absence of any history of migraine, stroke, or vascular risk factors such as hypertension or diabetes. Her family and relatives had no history of cerebrovascular disease or dementia. In neurological examination, the patient was dysarthric, with wide-based unsteady gait and hyperreflexia in lower limbs. There was greater truncal ataxia than lower limb ataxia, and upper limb ataxia was not evident except for very mild limb dysmetria and dysdiadochokinesis in the left (Supplementary Video). Eye movement examinations were grossly normal, with normal saccades and smooth pursuit. All other neurological parameters were also unremarkable. Brain magnetic resonance imaging (MRI) revealed bilateral anterior temporal lobe, external capsule, and periventricular white matter lesions on fluid-attenuated inversion recovery (FLAIR) images (Fig. 1 a and b). Neuropsychological testing revealed mild cognitive impairment (MCI) with impaired visuospatial memory and fronto-executive function, and the Beck Depression Inventory (BDI) indicated mild depression. Nerve conduction studies of the upper and lower extremities reve
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