family associated with anovel144basepair insertion oftheprion protein gene
2011
A caseof familial Creutzfeldt-Jakob disease associated witha 144basepair insertion inthe-openreading frameofthe prion proteingene is described. Sequencing ofthemutatedallele showed an arrangementof-six octapeptide repeats, distinct fromthatofa recently described British family withaninsertion ofsimilar size. Thirteen yearspreviously thebrother oftheprobandhaddiedfrom "Huntington's disease", butre-examinationof hisneuropathology revealed spongiform encephalopathy and antiprion proteinimmunocytochemistry gavea positive result. Theindependent evolution ofatleast twodistinct pathological 144basepairinsertions inBritain isproposed. The importance ofmaintamingahighindexofsuspicion ofinheritedCreutzfeldt-Jakob disease incasesof familial neurodegenerative diseaseis stressed. (JNeurol Neurosurg Psychiatry 1995;58:65-69)
- Correction
- Cite
- Save
- Machine Reading By IdeaReader
2
References
0
Citations
NaN
KQI