Objective: To describe progressive supranuclear palsy (PSP) as a clinical manifestation of second stage CADASIL syndrome.

Background: Recent data suggests that CADASIL syndrome in rare cases may also lead to movement disorders, such as vascular parkinsonism and other Parkinson plus syndromes.

Methods: The study included 5 CADASIL patients, with slowly progressive supranuclear palsy. We performed brain MRI and clinical examination. Clinical manifestations included migraine with aura, transient ischemic attacks and in 3 of patients mood disorders, especially depression, vertical gaze commonly Parkinsonian symptoms, such as postural instability and falls, short shuffling Parkinsonian gait accompanied by a wider base of stance and variable stride length, absence of festination and early subcortical dementia. performed brain MRI, 123I-FP-CIT SPECT and clinical examination. All patients had positive familial history and Notch3 gene mutation. All patients had Positive familial history: autosomal dominant pattern for one or more of the typical clinical features and initial clinical manifestation were migraine attacks, occurred before 20.

Results: In all patients, brain MRI showed widespread multifocal and bilateral FLAIR/ T2 hyperintensities in the periventricular and deep white matter, with lesions mainly affecting the anterior temporal pole, and basal ganglia; focal hypointensities on T1 (lacunar infarcts) and lesions suggestive of microhemorrhages in SWI and gradient-echo T2. 123I-FP-CIT SPECT showed clear nigrostriatal denervation, which also showed a right putaminal infarct.

Conclusions: PSP symptoms can predominate as a common clinical manifestation of second stage of CADASIL syndrome.

« Back to 2016 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/progressive-supranuclear-palsy-as-a-manifestation-of-the-second-stage-of-cadasil-syndrome/