Difference between revisions of "Neurodegenerative diseases"

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→‎Alzheimer disease: +gene implicated
(→‎Alzheimer disease: +gene implicated)
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*Diagnosis is clinical & pathologic.
*Diagnosis is clinical & pathologic.
**Pathologic finding alone are not diagnostic.
**Pathologic finding alone are not diagnostic.
*[[Trisomy 21]] (Down syndrome) - increases risk.<ref>{{Cite journal  | last1 = Nieuwenhuis-Mark | first1 = RE. | title = Diagnosing Alzheimer's dementia in Down syndrome: problems and possible solutions. | journal = Res Dev Disabil | volume = 30 | issue = 5 | pages = 827-38 | month =  | year =  | doi = 10.1016/j.ridd.2009.01.010 | PMID = 19269132 }}
</ref>
*Seen in conjunction with vascular amyloid deposition; see ''[[cerebral amyloid angiopathy]]''.
*Seen in conjunction with vascular amyloid deposition; see ''[[cerebral amyloid angiopathy]]''.
Genes associated with Alzheimer disease:<ref>{{Ref PCPBoD8|674-5}}</ref>
*Amyloid precursor protein (APP).
**On chromosome 21 - may explain by [[Trisomy 21]] (Down syndrome) - increases the risk.<ref name=pmid19269132>{{Cite journal  | last1 = Nieuwenhuis-Mark | first1 = RE. | title = Diagnosing Alzheimer's dementia in Down syndrome: problems and possible solutions. | journal = Res Dev Disabil | volume = 30 | issue = 5 | pages = 827-38 | month =  | year =  | doi = 10.1016/j.ridd.2009.01.010 | PMID = 19269132 }}</ref>
*Presenilin 1 (PSEN1).<ref name=omim104311>{{OMIM|104311}}</ref>
*Presenilin 2 (PSEN2).<ref name=omim600759>{{OMIM|600759}}</ref>
*Apolipoprotein E (APOE)<ref name=omim107741>{{OMIM|107741}}</ref> - specifically the ''epsilon-4'' allele.
===Gross===
===Gross===
Features:
Features:
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