Parkinsonism is a Late, Not Rare, Feature of CADASIL
| Autor: | Gabriella Cacchiò, Serena Silvestri, Giuseppe De Michele, Maria Scarcella, Antonio Manca, Fabio Di Marzio, Michele Ragno, Alfonso Berbellini, Anna De Rosa, Luigi Pianese |
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| Přispěvatelé: | Ragno, M, Berbellini, A, Cacchi?, G, Manca, A, Di Marzio, F, Pianese, L, DE ROSA, Anna, Silvestri, S, Scarcella, M, DE MICHELE, Giuseppe |
| Rok vydání: | 2013 |
| Předmět: |
Male
Pathology medicine.medical_specialty CADASIL Late onset Scintigraphy Levodopa Leukoencephalopathy Parkinsonian Disorders Leukoencephalopathies Basal ganglia medicine Humans Genetic Predisposition to Disease Receptor Notch3 Aged Tomography Emission-Computed Single-Photon Advanced and Specialized Nursing Receptors Notch medicine.diagnostic_test business.industry Putamen Parkinsonism Brain Exons CADASIL Syndrome medicine.disease Magnetic Resonance Imaging Italy Mutation Female Neurology (clinical) Cardiology and Cardiovascular Medicine business |
| Zdroj: | Stroke. 44:1147-1149 |
| ISSN: | 1524-4628 0039-2499 |
| Popis: | Background and Purpose— To describe parkinsonism as a clinical manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Methods— We report 5 patients carrying the R1006C mutation in the exon 19 of NOTCH3 gene. All cases presented late onset, slowly progressive parkinsonism, not responsive to l-dopa. We performed brain MRI and 123 I-FP-CIT SPECT in all and in 3 additional patients carrying the same mutation but without parkinsonism. Four patients with parkinsonism underwent myocardial 123 I-meta-iodobenzylguanidine scintigraphy. Results— In all patients, brain MRI showed widespread ischemic lesions in the periventricular white matter, the internal and external capsules, the basal ganglia, and thalami. 123 I-FP-CIT SPECT showed symmetrical or asymmetrical reduction of tracer uptake in the putamen, with inconstant caudate involvement. Myocardial 123 I-meta-iodobenzylguanidine scintigraphy resulted normal. Nigrostriatal denervation was also demonstrated in 2 patients without parkinsonism. Conclusions— In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, parkinsonism may be a not rare, late onset manifestation. The clinical picture, the lack of response to dopaminergic treatment, and MRI findings suggest a vascular parkinsonism, which may be preceded by a protracted presymptomatic phase. |
| Databáze: | OpenAIRE |
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