Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

被引:122
|
作者
Vihola, A
Bassez, G
Meola, G
Zhang, S
Haapasalo, H
Paetau, A
Mancinelli, E
Rouche, A
Hogrel, JY
Laforêt, P
Maisonobe, T
Pellissier, JF
Krahe, R
Eymard, B
Udd, B [1 ]
机构
[1] Vaasa Cent Hosp, Dept Neurol, FIN-65130 Vaasa, Finland
[2] Salpetriere Hosp, Myol Inst, Paris, France
[3] Univ Milan, San Donato Hosp, Dept Neurol, Milan, Italy
[4] Ohio State Univ, Ctr Comprehens Canc, Dept Mol Virol Immunol & Med Genet, Human Canc Genet Program, Columbus, OH 43210 USA
[5] Tampere Univ Hosp, Dept Pathol, Tampere, Finland
[6] Univ Helsinki, Dept Pathol, FIN-00014 Helsinki, Finland
[7] Univ Milan, Dept Physiol & Gen Biochem, I-20122 Milan, Italy
[8] Salpetriere Hosp, Dept Neuropathol, Paris, France
[9] Hop Enfants La Timone, Dept Pathol & Neuropathol, Marseille, France
[10] Univ Texas, MD Anderson Canc Ctr, Dept Mol Genet, Sect Canc Genet, Houston, TX 77030 USA
关键词
D O I
10.1212/01.WNL.0000065898.61358.09
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Muscle biopsy findings in DM2 have been reported to be similar to those in DM1. The authors used myosin heavy chain immunohistochemistry and enzyme histochemistry for fiber type differentiation on muscle biopsies. Their results show that DM2 patients display a subpopulation of type 2 nuclear clump and other very small fibers and, hence, preferential type 2 fiber atrophy in contrast to type 1 fiber atrophy in DM1 patients.
引用
收藏
页码:1854 / 1857
页数:4
相关论文
共 50 条
  • [1] Myotonic dystrophy: Emerging mechanisms for DM1 and DM2
    Cho, Diane H.
    Tapscott, Stephen J.
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2007, 1772 (02): : 195 - 204
  • [2] Gastrointestinal (GI) symptoms in myotonic dystrophy type 1 and type 2 (DM1 and DM2)
    Hilbert, James E.
    Martens, William B.
    Smirnow, Alexis M.
    Moxley, Richard T., III
    ANNALS OF NEUROLOGY, 2008, 64 : S7 - S7
  • [3] The frequency of myotonic dystrophy type 2 (DM2) and type 1 (DM1) mutations in the population
    Suominen, T.
    Bachinski, L. L.
    Auvinen, S.
    Hackman, P.
    Angelini, C.
    Peltonen, L.
    Krahe, R.
    Udd, B.
    NEUROMUSCULAR DISORDERS, 2010, 20 (9-10) : 628 - 628
  • [4] Differences in distribution and type of myotonic discharges in genetically confirmed myotonic dystrophy type 1 (DM1) versus type 2 (DM2)
    Logigian, E
    Ciafaloni, E
    Quinn, C
    Dilek, N
    Moxley, R
    Thornton, C
    NEUROLOGY, 2006, 66 (05) : A320 - A320
  • [5] Pattern of brain involvement myotonic dystrophy type 1 (DM1) versus type 2 (DM2)
    Angelini, Corrado
    Ferrati, Chiara
    Romeo, Vincenzo
    Ermani, Mario
    NEUROLOGY, 2008, 70 (11) : A306 - A306
  • [6] Myotonic dystrophy unlinked to DM1 and DM2 mutations in three siblings
    Pisani, V.
    Botta, A.
    Bonifazi, E.
    Panico, M.
    Marfia, G.
    Bernardi, G.
    Novelli, G.
    Massa, R.
    NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 857 - 857
  • [7] Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2)
    Gaul, C.
    Schmidt, T.
    Windisch, G.
    Wieser, T.
    Mueller, T.
    Vielhaber, S.
    Zierz, S.
    Leplow, B.
    NEUROLOGY, 2006, 67 (02) : 350 - 352
  • [8] Progressive frontal lobe impairment in myotonic dystrophy type 1 (DM1) and type 2 (DM2): A longitudinal study
    Meola, G
    Sansone, V
    Gandossini, S
    Milanese, SD
    Cattaneo, E
    Brescia, A
    Cotticelli, B
    Zanetti, O
    Calabria, M
    Cotelli, M
    Binetti, G
    NEUROLOGY, 2005, 64 (06) : A415 - A415
  • [9] Systematic survey of EMG and neurographic findings in myotonic dystrophy Types 1 (DM1) and 2 (DM2)
    Khizanishvili, N.
    Stahl, K.
    Montagnese, F.
    Wenninger, S.
    Antia, A.
    Kvirkvelia, N.
    Schoser, B.
    EUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 689 - 689
  • [10] Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease
    Maurage, CA
    Udd, B
    Ruchoux, MM
    Vermersch, P
    Kalimo, H
    Krahe, R
    Delacourte, A
    Sergeant, N
    NEUROLOGY, 2005, 65 (10) : 1636 - 1638