Session Information
Date: Monday, June 20, 2016
Session Title: Parkinsonism, MSA, PSP (secondary and parkinsonism-plus)
Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To study and report the frequency of movement disorders in Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
Background: CADASIL is the main cause of hereditary vascular encephalopathy. Its prevalence has not been defined with accuracy, but it is estimated that is underdiagnosed, probably being one of the most frequent hereditary neurological disorders. Typical clinical presentation includes neuropsychiatric manifestations which can evolve to dementia, and migraine with aura that precedes in many years the set of encephalopathy. The presence of Parkinsonian signs or movement disorders are not pointed out as characteristic features of this disorder in classical descriptions. However, parkinsonism has been reported previously in an italian CADASIL subpopulation of patients with the R1006C NOTCH3 mutation (Ragno, 2013). A clinical presentation as focal dystonia was also reported in a Chilean family (Miranda, 2006).
Methods: Six uruguayan patients seen at the School of Medicine’s Hospital at Montevideo, Uruguay, with a clinical suspicion of CADASIL were studied by clinical examination, familial history, cranial MRI, neuropsychological assessment, functional neuroimaging and skin biopsy with electron microscopy which confirmed the diagnosis in all patients.
Results: Five of the six patients with clinical, neuroradiological and pathological presentation consistent with CADASIL showed noticeable Parkinsonian signs. These findings were seen as part of diffuse encephalopathy or as the initial presentation of the disease in one case. In another case the reason for neurological consultation was diskynesia of the mouth and jaw in a patient not exposed to neuroleptics drugs.
Conclusions: The diagnosis of CADASIL must be considered in clinical situations that encompass the differential diagnosis of secondary or atypical parkinsonism and other movement disorders, with the presence of a clinical and neuroradiological compatible findings.
To cite this abstract in AMA style:
I. Amorín, A. Lescano, A. Panuncio, V. Raggio, R. Buzó. Parkinsonism and movement disorders in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/parkinsonism-and-movement-disorders-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil/. Accessed May 14, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/parkinsonism-and-movement-disorders-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil/