Difference between revisions of "Neuropathology"
Jump to navigation
Jump to search
m (→Types: more on type2) |
(→Weird stuff: mv to degenerative) |
||
Line 424: | Line 424: | ||
*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>{{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> | *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: proven ''Notch 3'' mutation. | |||
=== | ===Microscopic=== | ||
Features: | Features: | ||
*Subcortical infarcts. | *Subcortical infarcts. | ||
Line 445: | Line 441: | ||
*Binswanger's disease - multi-infarct dementia affecting subcortical white matter. | *Binswanger's disease - multi-infarct dementia affecting subcortical white matter. | ||
**Often diagnosed as ''Alzheimer's disease'' in the past. | **Often diagnosed as ''Alzheimer's disease'' in the past. | ||
====Skin biopsy diagnosis==== | |||
*Can be diagnosed on a skin biopsy. | |||
**IHC for ''Notch 3''; +ve granular staining in small vessels in ''Notch 3'' mutants. | |||
===Electron microscopy=== | ===Electron microscopy=== | ||
*Granular osmiophilic material (GOM). | *Granular osmiophilic material (GOM). | ||
=See also= | =See also= |