Difference between revisions of "Neuropathology"

Line 212:

==Weird stuff==

==Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)==

General:

===General===

*Autosomal dominant disorder - the name implies.<ref name=pmid19174371>PMID: 19174371.</ref>

*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.

*Characteristic MRI findings - present in asymptomatic individuals with mutation.

Etiology:

===Etiology===

*Mutation of ''Notch 3'' gene.<ref name=pmid15537516>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:

===Diagnosis===

*Proven ''Notch3'' mutation.

Histology:

===Histology===

*Electron microscopy (skin biopsy):

**Granular osmiophilic material (GOM).

Difference between revisions of "Neuropathology"

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@@ Line 212: / Line 212: @@
 ==Weird stuff==
 ==Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)==
-General:
+===General===
-*Autosomal dominant disorder - the name implies.<ref name=pmid19174371>PMID: 19174371.</ref>
+*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.
 *Characteristic MRI findings - present in asymptomatic individuals with mutation.
-Etiology:
+===Etiology===
-*Mutation of ''Notch 3'' gene.<ref name=pmid15537516>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:
+===Diagnosis===
 *Proven ''Notch3'' mutation.
-Histology:
+===Histology===
 *Electron microscopy (skin biopsy):
 **Granular osmiophilic material (GOM).