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Table 3 Therapeutic studies on blood flow in CADASIL

From: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects




Related to an increase of cerebral perfusion evaluated by perfusion MRI [156], transcranial Doppler sonography [157] and Tc-99 m extracellular domain brain perfusion SPECT [158, 159]


No effects on cerebral blood flow [160], tested with transcranial Doppler


Induced-vasoreactivity [161], tested with transcranial Doppler

Sapropterin (200–400 mg bid in 24 months)

Final results for the primary end-point (mean difference in reactive hyperemia index) were not significant for any improvement of peripheral vasoreactivity [162]

Novel molecular therapeutic target (as stem cell factor and granulocyte-colony stimulating factor)

Ongoing [163]