Parkinsonism is a new pattern onset of CADASIL patients carrying with R544C Mutation: a case report

Abstract

Abstract Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant hereditary disease of cerebral small vessels. It is the most frequent heritable disease that causes stroke and vascular dementia. In China, patients carrying c.1630C>T (p.Arg544Cys) accounted for large proportion, typical symptoms including migraine with aura, transient ischemic attacks (TIA) or ischemic stroke, intracranial hemorrhage, cognitive impairment, and psychiatric disturbance. Parkinsonism, as an advanced non-rare symptom of CADASIL, is rarely found in clinical CADASIL patients with it onset. Case presentation: This essay details a case of parkinsonism, which finally be identified as CADASIL with c.1630C > T (p. Arg544cys) mutation in the exon 11 of NOTCH3 gene. The patient, a 65-year-old male, presented with progressive gait instability, rigidity and mild emotional disorder. Head magnetic resonance imaging (MRI) revealed white matter (hyperintensity) signal in the bilateral periventricular and semiovale center. 3,4-Dihydroxy-6-[18F]-fluoro-L-phenylalanine (FDOPA) positron emission tomography (PET) revealed bilateral striatal FDOPA uptake was normal. Conclusions: Parkinsonism may be a new form of onset of CADASIL patients with c.1630C >T (p. Arg544cys) variants. Clinicians should systematically explore the possible cause of disease for patients with parkinsonism, and considering the potential diagnosis of CADASIL.