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Difference between revisions of "Neurodegenerative diseases"
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(→Alzheimer disease: +gene implicated) |
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==Alzheimer disease== | ==Alzheimer disease== | ||
===General=== | ===General=== | ||
*Onset: episodic memory loss. | *Onset: episodic memory loss. | ||
*Diagnosis is clinical & pathologic. | *Diagnosis is clinical & pathologic. | ||
**Pathologic finding alone are not diagnostic. | **Pathologic finding alone are not diagnostic. | ||
*Seen in conjunction with vascular amyloid deposition; see ''[[cerebral amyloid angiopathy]]''. | *Seen in conjunction with vascular amyloid deposition; see ''[[cerebral amyloid angiopathy]]''. | ||
====Genetics==== | |||
Genes associated with Alzheimer disease:<ref>{{Ref PCPBoD8|674-5}}</ref> | Genes associated with Alzheimer disease:<ref>{{Ref PCPBoD8|674-5}}</ref> | ||
*Amyloid precursor protein (APP). | *Amyloid precursor protein (APP). | ||
**On chromosome 21 - may explain | **On chromosome 21 - may explain why [[Trisomy 21]] (Down syndrome) increases the risk of Alzheimer disease.<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 1 (PSEN1).<ref name=omim104311>{{OMIM|104311}}</ref> | ||
*Presenilin 2 (PSEN2).<ref name=omim600759>{{OMIM|600759}}</ref> | *Presenilin 2 (PSEN2).<ref name=omim600759>{{OMIM|600759}}</ref> | ||
*Apolipoprotein E (APOE)<ref name=omim107741>{{OMIM|107741}}</ref> - specifically the ''epsilon-4'' allele. | *Apolipoprotein E (APOE)<ref name=omim107741>{{OMIM|107741}}</ref> - specifically the ''epsilon-4'' allele. | ||
===Gross=== | ===Gross=== | ||