Difference between revisions of "Neuropathology"

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===Diagnosis===
===Diagnosis===
*Proven ''Notch3'' mutation.
*Proven ''Notch 3'' mutation.
*Can be diagnosed on a skin biopsy.
*IHC for ''Notch 3'' -- +ve staining in Notch 3 mutants.


===Histology===
===Histology===
*Electron microscopy (skin biopsy):
Features:
**Granular osmiophilic material (GOM).
*Subcortical infarcts.
 
Note:
*No cortical involvement.
 
DDx:
*Amyloidosis.
*Binswanger's disease - multi-infarct dementia affecting subcortical white mater.
**Often diagnosed as ''Alzheimer's disease'' in the past.
 
===Electron microscopy===
*Granular osmiophilic material (GOM).


==See also==
==See also==
48,584

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