Literature DB >> 29411683

Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease.

Natsumi Saito1, Tomohiko Ishihara1,2, Kensaku Kasuga1,3, Mana Nishida1, Takanobu Ishiguro1, Hiroaki Nozaki1,4, Takayoshi Shimohata1, Osamu Onodera1, Masatoyo Nishizawa1.   

Abstract

We report a Japanese patient with spinocerebellar ataxia type 31 (SCA31) and sporadic Creutzfeldt-Jakob disease (sCJD). A 52-year-old man developed progressive cognitive impairment after the appearance of cerebellar symptoms. Brain MR diffusion-weighted imaging (DWI) demonstrated a slowly expanding hyperintense lesion in the cerebral cortex. The patient was finally diagnosed as having both SCA31 and sCJD by identification of genetic mutations and by real-time quaking-induced conversion (RT-QUIC) analysis of the cerebrospinal fluid (CSF), respectively. Here, we report the clinical details of this rare combined case, with particular reference to the association between prion protein and the early onset of SCA31.

Entities:  

Keywords:  RAN translation; cerebellar ataxia; real-time quaking-induced conversion; spinocerebellar ataxia type 31; sporadic Creutzfeldt-Jakob disease

Mesh：

Year:  2018        PMID： 29411683      PMCID： PMC6016509          DOI： 10.1080/19336896.2018.1436926

Source DB:  PubMed          Journal:  Prion        ISSN： 1933-6896            Impact factor:   3.931


  10 in total

1.  Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease.

Authors:  Y Hellenbroich; W Schulz-Schaeffer; M F Nitschke; J Köhnke; G Händler; K Bürk; E Schwinger; C Zühlke
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-06       Impact factor: 10.154

2.  Gene expression profile following stable expression of the cellular prion protein.

Authors:  Jun-ichi Satoh; Takashi Yamamura
Journal:  Cell Mol Neurobiol       Date:  2004-12       Impact factor: 5.046

3.  Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion.

Authors:  Ryuichiro Atarashi; Katsuya Satoh; Kazunori Sano; Takayuki Fuse; Naohiro Yamaguchi; Daisuke Ishibashi; Takehiro Matsubara; Takehiro Nakagaki; Hitoki Yamanaka; Susumu Shirabe; Masahito Yamada; Hidehiro Mizusawa; Tetsuyuki Kitamoto; Genevieve Klug; Amelia McGlade; Steven J Collins; Noriyuki Nishida
Journal:  Nat Med       Date:  2011-01-30       Impact factor: 53.440

4.  Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects.

Authors:  P Parchi; A Giese; S Capellari; P Brown; W Schulz-Schaeffer; O Windl; I Zerr; H Budka; N Kopp; P Piccardo; S Poser; A Rojiani; N Streichemberger; J Julien; C Vital; B Ghetti; P Gambetti; H Kretzschmar
Journal:  Ann Neurol       Date:  1999-08       Impact factor: 10.422

5.  Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31.

Authors:  Takayuki Ishige; Setsu Sawai; Sakae Itoga; Kenichi Sato; Emi Utsuno; Minako Beppu; Kazuaki Kanai; Motoi Nishimura; Kazuyuki Matsushita; Satoshi Kuwabara; Fumio Nomura
Journal:  J Hum Genet       Date:  2012-09-20       Impact factor: 3.172

6.  Clinical features and diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease.

Authors:  Anna Krasnianski; Bettina Meissner; Walter Schulz-Schaeffer; Kai Kallenberg; Mario Bartl; Uta Heinemann; Daniela Varges; Hans A Kretzschmar; Inga Zerr
Journal:  Arch Neurol       Date:  2006-06

7.  Prospective 10-year surveillance of human prion diseases in Japan.

Authors:  Ichiro Nozaki; Tsuyoshi Hamaguchi; Nobuo Sanjo; Moeko Noguchi-Shinohara; Kenji Sakai; Yosikazu Nakamura; Takeshi Sato; Tetsuyuki Kitamoto; Hidehiro Mizusawa; Fumio Moriwaka; Yusei Shiga; Yoshiyuki Kuroiwa; Masatoyo Nishizawa; Shigeki Kuzuhara; Takashi Inuzuka; Masatoshi Takeda; Shigetoshi Kuroda; Koji Abe; Hiroyuki Murai; Shigeo Murayama; Jun Tateishi; Ichiro Takumi; Susumu Shirabe; Masafumi Harada; Atsuko Sadakane; Masahito Yamada
Journal:  Brain       Date:  2010-09-20       Impact factor: 13.501

8.  Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.

Authors:  Hiroaki Nozaki; Takeshi Ikeuchi; Akio Kawakami; Akio Kimura; Reiji Koide; Miyuki Tsuchiya; Yuusaku Nakmura; Tatsuro Mutoh; Hiroko Yamamoto; Naoki Nakao; Ko Sahashi; Masatoyo Nishizawa; Osamu Onodera
Journal:  Mov Disord       Date:  2007-04-30       Impact factor: 10.338

9.  Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Authors:  Nozomu Sato; Takeshi Amino; Kazuhiro Kobayashi; Shuichi Asakawa; Taro Ishiguro; Taiji Tsunemi; Makoto Takahashi; Tohru Matsuura; Kevin M Flanigan; Sawa Iwasaki; Fumitoshi Ishino; Yuko Saito; Shigeo Murayama; Mari Yoshida; Yoshio Hashizume; Yuji Takahashi; Shoji Tsuji; Nobuyoshi Shimizu; Tatsushi Toda; Kinya Ishikawa; Hidehiro Mizusawa
Journal:  Am J Hum Genet       Date:  2009-10-29       Impact factor: 11.025

10.  Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31.

Authors:  Taro Ishiguro; Nozomu Sato; Morio Ueyama; Nobuhiro Fujikake; Chantal Sellier; Akemi Kanegami; Eiichi Tokuda; Bita Zamiri; Terence Gall-Duncan; Mila Mirceta; Yoshiaki Furukawa; Takanori Yokota; Keiji Wada; J Paul Taylor; Christopher E Pearson; Nicolas Charlet-Berguerand; Hidehiro Mizusawa; Yoshitaka Nagai; Kinya Ishikawa
Journal:  Neuron       Date:  2017-03-23       Impact factor: 17.173
  10 in total

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