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

  • Published:2015-12-17 Issue:1 Volume:23 Page:196-200
  • ISSN:1351-5101
  • Container-title:European Journal of Neurology
  • language:en
  • Short-container-title:Eur J Neurol

Author:

Matsuzono K.1,Honda H.2,Sato K.1,Morihara R.1,Deguchi K.1,Hishikawa N.1,Yamashita T.1,Kono S.1,Ohta Y.1,Iwaki T.2,Abe K.1

Affiliation:

1. Department of Neurology; Okayama University Graduate School of Medicine; Dentistry and Pharmaceutical Science; Okayama Japan

2. Department of Neuropathology; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan

Funder

Scientific Research (B)

Scientific Research (C)

Ministry of Education, Science, Culture and Sports of Japan

Research Committee of Prion Diseases

Ministry of Health, Labour and Welfare of Japan

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference5 articles.

1. A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment;Matsuzono;Eur J Neurol,2013

2. A novel prion disease associated with diarrhea and autonomic neuropathy;Mead;N Engl J Med,2013

3. Prion disease associated with diarrhea and autonomic neuropathy: phenotypic and genetic characterisation of an Italian family;Capellari;Prion,2014

4. A new prion disease: relationship with central and peripheral amyloidoses;Mead;Nat Rev Neurol,2015

5. Fatal familial insomnia, a prion disease with a mutation at codon-178 of the prion protein gene;Medori;N Engl J Med,1992
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