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.