'PrP systemic deposition disease': clinical and pathological characteristics of novel familial prion disease with 2-bp deletion in codon 178

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
K MatsuzonoK Abe

Abstract

A novel TYPE of prion disease associated mainly with autonomic-sensory polyneuropathy was reported by us previously. Here the autopsy pathology for patient 1 (the sister) and the clinical characteristics of her younger brother (patient 2) are newly reported. Polymerase chain reaction based restriction fragment length polymorphism analysis of the prion protein gene (PRNP) was performed on both patients and their father (normal control). Polymerase chain reaction based restriction fragment length polymorphism analysis revealed a 2-bp deletion (CT) in codon 178 that causes an additional variable 25 amino acids at the C terminal, from the mutation site to the premature stop codon at codon 203, in both patients 1 and 2 but not in their father. The autopsy of patient 1 showed remarkable prion protein (PrP) deposits in the sympathetic ganglion and peripheral nerves, correlated to her severe autonomic sensory failure. PrP deposits were also found in the central nervous system and peripheral organs such as the heart, lung, stomach, jejunum, ileum, colon, urinary bladder and adrenal gland. The symptoms and biopsy findings of patient 2 were nearly the same as those reported previously for patient 1. His cognitive function was well preserv...Continue Reading

References

Feb 13, 1992·The New England Journal of Medicine·R MedoriP Cortelli
Apr 13, 2013·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·K MatsuzonoK Abe
Nov 15, 2013·The New England Journal of Medicine·Simon MeadJohn Collinge
Jan 28, 2015·Nature Reviews. Neurology·Simon Mead, Mary M Reilly

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Citations

Oct 17, 2017·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A H V Schapira
Feb 26, 2019·Annals of Neurology·Philip KreslGabor G Kovacs
Aug 6, 2020·Frontiers in Pharmacology·Alice NevoneMario Nuvolone
Dec 28, 2018·Brain Pathology·Simone BaiardiPiero Parchi
Nov 6, 2020·The American Journal of Gastroenterology·Kosuke MatsuzonoShigeru Fujimoto
Aug 18, 2021·Journal of the Neurological Sciences·Kosuke MatsuzonoShigeru Fujimoto

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