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Difference between revisions of "Neuropathology"
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→Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): format, refs
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==Weird stuff== | ==Weird stuff== | ||
==Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)== | ==Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)== | ||
General | ===General=== | ||
*Autosomal dominant disorder - the name implies.<ref name=pmid19174371>PMID | *Autosomal dominant disorder - the name implies.<ref name=pmid19174371>{{Cite journal | last1 = Tikka | first1 = S. | last2 = Mykkänen | first2 = K. | last3 = Ruchoux | first3 = MM. | last4 = Bergholm | first4 = R. | last5 = Junna | first5 = M. | last6 = Pöyhönen | first6 = M. | last7 = Yki-Järvinen | first7 = H. | last8 = Joutel | first8 = A. | last9 = Viitanen | first9 = M. | title = Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. | journal = Brain | volume = 132 | issue = Pt 4 | pages = 933-9 | month = Apr | year = 2009 | doi = 10.1093/brain/awn364 | PMID = 19174371 }} | ||
</ref> | |||
*Cases strokes in 40-50 year-old. | *Cases strokes in 40-50 year-old. | ||
*Characteristic MRI findings - present in asymptomatic individuals with mutation. | *Characteristic MRI findings - present in asymptomatic individuals with mutation. | ||
Etiology | ===Etiology=== | ||
*Mutation of ''Notch 3'' gene.<ref name=pmid15537516>PMID | *Mutation of ''Notch 3'' gene.<ref name=pmid15537516>{{Cite journal | last1 = Kalaria | first1 = RN. | last2 = Viitanen | first2 = M. | last3 = Kalimo | first3 = H. | last4 = Dichgans | first4 = M. | last5 = Tabira | first5 = T. | title = The pathogenesis of CADASIL: an update. | journal = J Neurol Sci | volume = 226 | issue = 1-2 | pages = 35-9 | month = Nov | year = 2004 | doi = 10.1016/j.jns.2004.09.008 | PMID = 15537516 }}</ref> | ||
Diagnosis | ===Diagnosis=== | ||
*Proven ''Notch3'' mutation. | *Proven ''Notch3'' mutation. | ||
Histology | ===Histology=== | ||
*Electron microscopy (skin biopsy): | *Electron microscopy (skin biopsy): | ||
**Granular osmiophilic material (GOM). | **Granular osmiophilic material (GOM). | ||