PT  - JOURNAL ARTICLE
AU  - D Nicholl
AU  - O Windl
AU  - R de Silva
AU  - S Sawcer
AU  - M Dempster
AU  - J W Ironside
AU  - J P Estibeiro
AU  - G M Yuill
AU  - R Lathe
AU  - R G Will
TI  - Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.
AID  - 10.1136/jnnp.58.1.65
DP  - 1995 Jan 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 65--69
VI  - 58
IP  - 1
4099  - http://jnnp.bmj.com/content/58/1/65.short
4100  - http://jnnp.bmj.com/content/58/1/65.full
SO  - J Neurol Neurosurg Psychiatry1995 Jan 01; 58
AB  - A case of familial Creutzfeldt-Jakob disease associated with a 144 base pair insertion in the open reading frame of the prion protein gene is described. Sequencing of the mutated allele showed an arrangement of six octapeptide repeats, distinct from that of a recently described British family with an insertion of similar size. Thirteen years previously the brother of the proband had died from "Huntington's disease", but re-examination of his neuropathology revealed spongiform encephalopathy and anti-prion protein immunocytochemistry gave a positive result. The independent evolution of at least two distinct pathological 144 base pair insertions in Britain is proposed. The importance of maintaining a high index of suspicion of inherited Creutzfeldt-Jakob disease in cases of familial neurodegenerative disease is stressed.