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

被引：1
作者：
Saito, Natsumi [1 ]
Ishihara, Tomohiko [1 ,2 ]
Kasuga, Kensaku [1 ,3 ]
Nishida, Mana [1 ]
Ishiguro, Takanobu [1 ]
Nozaki, Hiroaki [1 ,4 ]
Shimohata, Takayoshi [1 ]
Onodera, Osamu [1 ]
Nishizawa, Masatoyo [1 ]
机构：
[1] Niigata Univ, Brain Res Inst, Dept Neurol, 1-757 Asahimachi, Niigata 9518520, Japan
[2] Niigata Univ, Brain Res Inst, Dept Mol Neurosci, Niigata, Japan
[3] Niigata Univ, Brain Res Inst, Dept Mol Genet, Niigata, Japan
[4] Niigata Univ, Grad Sch Hlth Sci, Niigata, Japan
来源：
PRION | 2018年 / 12卷 / 02期
关键词：
spinocerebellar ataxia type 31; sporadic Creutzfeldt-Jakob disease; cerebellar ataxia; real-time quaking-induced conversion; RAN translation; DIAGNOSIS;
D O I：
10.1080/19336896.2018.1436926
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：147 / 149
页数：3
相关论文
共 11 条
  • [1] Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion
    Atarashi, Ryuichiro
    Satoh, Katsuya
    Sano, Kazunori
    Fuse, Takayuki
    Yamaguchi, Naohiro
    Ishibashi, Daisuke
    Matsubara, Takehiro
    Nakagaki, Takehiro
    Yamanaka, Hitoki
    Shirabe, Susumu
    Yamada, Masahito
    Mizusawa, Hidehiro
    Kitamoto, Tetsuyuki
    Klug, Genevieve
    McGlade, Amelia
    Collins, Steven J.
    Nishida, Noriyuki
    [J]. NATURE MEDICINE, 2011, 17 (02) : 175 - 178
  • [2] Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease
    Hellenbroich, Y
    Schulz-Schaeffer, W
    Hellenbroich, Y
    Nitschke, MF
    Köhnke, J
    Händler, G
    Bürk, K
    Schwinger, E
    Zühlke, C
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (06) : 937 - 938
  • [3] Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31
    Ishige, Takayuki
    Sawai, Setsu
    Itoga, Sakae
    Sato, Kenichi
    Utsuno, Emi
    Beppu, Minako
    Kanai, Kazuaki
    Nishimura, Motoi
    Matsushita, Kazuyuki
    Kuwabara, Satoshi
    Nomura, Fumio
    [J]. JOURNAL OF HUMAN GENETICS, 2012, 57 (12) : 807 - 808
  • [4] Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31
    Ishiguro, Taro
    Sato, Nozomu
    Ueyama, Morio
    Fujikake, Nobuhiro
    Sellier, Chantal
    Kanegami, Akemi
    Tokuda, Eiichi
    Zamiri, Bita
    Gall-Duncan, Terence
    Mirceta, Mila
    Furukawa, Yoshiaki
    Yokota, Takanori
    Wada, Keiji
    Taylor, J. Paul
    Pearson, Christopher E.
    Charlet-Berguerand, Nicolas
    Mizusawa, Hidehiro
    Nagai, Yoshitaka
    Ishikawa, Kinya
    [J]. NEURON, 2017, 94 (01) : 108 - +
  • [5] Clinical features and diagnosis of the MM2 cortical subtype of sporadic Creutzfeldt-Jakob disease
    Krasnianski, Anna
    Meissner, Bettina
    Schulz-Schaeffer, Walter
    Kallenberg, Kai
    Bartl, Mario
    Heinemann, Uta
    Varges, Daniela
    Kretzschmar, Hans A.
    Zerr, Inga
    [J]. ARCHIVES OF NEUROLOGY, 2006, 63 (06) : 876 - 880
  • [6] Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population
    Nozaki, Hiroaki
    Ikeuchi, Takeshi
    Kawakami, Akio
    Kimura, Akio
    Koide, Reiji
    Tsuchiya, Miyuki
    Nakmura, Yuusaku
    Mutoh, Tatsuro
    Yamamoto, Hiroko
    Nakao, Naoki
    Sahashi, Ko
    Nishizawa, Masatoyo
    Onodera, Osamu
    [J]. MOVEMENT DISORDERS, 2007, 22 (06) : 857 - 862
  • [7] Prospective 10-year surveillance of human prion diseases in Japan
    Nozaki, Ichiro
    Hamaguchi, Tsuyoshi
    Sanjo, Nobuo
    Noguchi-Shinohara, Moeko
    Sakai, Kenji
    Nakamura, Yosikazu
    Sato, Takeshi
    Kitamoto, Tetsuyuki
    Mizusawa, Hidehiro
    Moriwaka, Fumio
    Shiga, Yusei
    Kuroiwa, Yoshiyuki
    Nishizawa, Masatoyo
    Kuzuhara, Shigeki
    Inuzuka, Takashi
    Takeda, Masatoshi
    Kuroda, Shigetoshi
    Abe, Koji
    Murai, Hiroyuki
    Murayama, Shigeo
    Tateishi, Jun
    Takumi, Ichiro
    Shirabe, Susumu
    Harada, Masafumi
    Sadakane, Atsuko
    Yamada, Masahito
    [J]. BRAIN, 2010, 133 : 3043 - 3057
  • [8] Parchi P, 1999, ANN NEUROL, V46, P224, DOI 10.1002/1531-8249(199908)46:2<224::AID-ANA12>3.0.CO
  • [9] 2-W
  • [10] Spinocerebellar Ataxia Type 31 Is Associated with "Inserted" Penta-Nucleotide Repeats Containing (TGGAA)n
    Sato, Nozomu
    Amino, Takeshi
    Kobayashi, Kazuhiro
    Asakawa, Shuichi
    Ishiguro, Taro
    Tsunemi, Taiji
    Takahashi, Makoto
    Matsuura, Tohru
    Flanigan, Kevin M.
    Iwasaki, Sawa
    Ishino, Fumitoshi
    Saito, Yuko
    Murayama, Shigeo
    Yoshida, Mari
    Hashizume, Yoshio
    Takahashi, Yuji
    Tsuji, Shoji
    Shimizu, Nobuyoshi
    Toda, Tatsushi
    Ishikawa, Kinya
    Mizusawa, Hidehiro
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (05) : 544 - 557
12