A micrograph showing punctate immunostaining (brown) with a Notch 3 antibody, as is characteristic in<unk> . MRIs show hypointensities on T1-weighted images and hyperintensities on T2-weighted images, usually multiple confluent white matter lesions of various sizes, are characteristic. These lesions are concentrated around the basal ganglia, peri-ventricular white matter, and the pons, and are similar to those seen in Binswanger disease. These white matter lesions are also seen in asymptomatic individuals with the mutated gene. While MRI is not used to diagnose<unk> , it can show the progression of white matter changes even decades before onset of symptoms. The definitive test is sequencing the whole Notch 3 gene, which can be done from a sample of blood. However, as this is quite expensive and<unk>  is a systemic arteriopathy, evidence of the mutation can be found in small and medium-size arteries. Therefore, skin biopsies are often used for the diagnosis.
CADASIL
Canavan disease
Menkes disease
Familial British dementia
Familial Danish dementia
Tauopathy
White dot syndromes
Lewy body dementias