Mutations in COQ2 in familial and sporadic multiple-system atrophy.

  title={Mutations in COQ2 in familial and sporadic multiple-system atrophy.},
  author={J. Mitsui and T. Matsukawa and H. Ishiura and Y. Fukuda and Yoko Fukuda and Y. Ichikawa and H. Date and B. Ahsan and Yasuo Nakahara and Yoshio Momose and Y. Takahashi and Atsushi Iwata and J. Goto and Y. Yamamoto and Makiko Komata and K. Shirahige and K. Hara and A. Kakita and M. Yamada and Hitoshi Takahashi and O. Onodera and M. Nishizawa and H. Takashima and R. Kuwano and H. Watanabe and M. Ito and G. Sobue and Hiroyuki Soma and I. Yabe and H. Sasaki and M. Aoki and K. Ishikawa and H. Mizusawa and Kazuaki Kanai and T. Hattori and S. Kuwabara and K. Arai and S. Koyano and Y. Kuroiwa and K. Hasegawa and T. Yuasa and K. Yasui and K. Nakashima and H. Ito and Y. Izumi and R. Kaji and T. Kato and S. Kusunoki and Y. Osaki and M. Horiuchi and T. Kondo and S. Murayama and Nobutaka Hattori and M. Yamamoto and Miho Murata and W. Satake and T. Toda and A. Durr and A. Brice and A. Filla and T. Klockgether and Ullrich Wallner and G. Nicholson and S. Gilman and Clifford M Shults and C. Tanner and W. Kukull and V. M. Lee and E. Masliah and P. Low and P. Sandroni and J. Trojanowski and L. Ozelius and T. Foroud and S. Tsuji},
  journal={The New England journal of medicine},
  volume={369 3},
  • J. Mitsui, T. Matsukawa, +72 authors S. Tsuji
  • Published 2013
  • Medicine
  • The New England journal of medicine
  • BACKGROUND Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Although multiple-system atrophy is widely considered to be a nongenetic disorder, we previously identified multiplex families with this disease, which indicates the involvement of genetic components. METHODS In combination with linkage analysis, we performed whole-genome sequencing… CONTINUE READING
    219 Citations
    Analysis of COQ2 gene in multiple system atrophy
    • 63
    Multiple system involvement in a Japanese patient with a V31A mutation in the SOD1 gene
    • 5
    Definite familial multiple system atrophy with unknown genetics
    • K. Itoh, T. Kasai, +7 authors S. Fushiki
    • Biology, Medicine
    • Neuropathology : official journal of the Japanese Society of Neuropathology
    • 2014
    • 13
    SHC2 gene copy number in multiple system atrophy (MSA)
    • 19
    Cross-examining candidate genes implicated in multiple system atrophy
    • 4
    • Highly Influenced


    Multiplex families with multiple system atrophy.
    • 95
    • PDF
    Definite multiple system atrophy in a German family
    • 44
    • PDF
    COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
    • 263
    • PDF
    SNCA variants are associated with increased risk for multiple system atrophy
    • 231
    Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients.
    • 445
    • PDF