Objective: To report the clinical manifestation of parkinsonism in patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) confirmed by the NOTCH3 gene mutation of Y456C mutation.

Background: CADASIL is a genetically transmitted small vessel disease caused by mutation in the NOTCH3 gene. The clinical manifestations include migraine, recurrent subcortical strokes, cognitive impairment, psychiatric manifestation, seizure and dementia. Parkinsonism has been reported only in a few cases as rare manifestation of CADASIL.

Methods: Description of case who presented with parkinsonism as the manifestation of CADASIL.

Results: A 69-year female visited our hospital due to psychosis. During evaluation, brain magnetic resonance imaging (MRI) showed abnormalities of diffuse white matter hyperintensities and multiple lacunar infarcts, and then she was referred to Neurology department. She diagnosed as CADASIL with the NOTCH3 gene mutation of c.1394A>G (p.Y456C) mutation. She also presented slowly progressive asymmetric parkinsonism for more than one year. At neurologic examination, she had resting tremor in right hand, bilateral bradykinesia (more severe in right side), and mild cognitive impairment. Modified Hoehn and Yahr stage was 1, and UnifiedParkinson’s disease Rating Scale—Motor Section (UPDRSIII) score was 13. ¹²⁵I-FP-CIT SPECT showed decreased uptake of tracer in left posterior portion of putamen. Levodopa medication was partially effective to tremor and bradykinesia.

Conclusions: Parkinson’s disease like phenotype and presynaptic dopaminergic deficit may be a one of manifestations of CADASIL.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/parkinsonism-in-patients-with-cadasil/