Account-creators
1,040
edits
Difference between revisions of "Neurodegenerative diseases"
Jump to navigation
Jump to search
Neurodegenerative diseases (view source)
Revision as of 06:38, 24 October 2019
, 06:38, 24 October 2019→Molecular: Update
Jensflorian (talk | contribs) (→Creutzfeldt-Jakob disease: Molecular) |
Jensflorian (talk | contribs) (→Molecular: Update) |
||
| Line 413: | Line 413: | ||
===Molecular=== | ===Molecular=== | ||
The CJD phenotype is associated with a | The CJD phenotype is associated with a PRNP D178N mutation and valine polymorphism at codon 129 (D178N-129V). A Met129 polymorphism will cause Fatal familiar insomnia in the setting of the same PRNP D178N mutation. <ref>{{Cite journal | last1 = Goldfarb | first1 = LG. | last2 = Petersen | first2 = RB. | last3 = Tabaton | first3 = M. | last4 = Brown | first4 = P. | last5 = LeBlanc | first5 = AC. | last6 = Montagna | first6 = P. | last7 = Cortelli | first7 = P. | last8 = Julien | first8 = J. | last9 = Vital | first9 = C. | title = Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. | journal = Science | volume = 258 | issue = 5083 | pages = 806-8 | month = Oct | year = 1992 | doi = 10.1126/science.1439789 | PMID = 1439789 }}</ref> | ||