A novel mutation of VCP gene is responsible for Autosomal Dominant (AD) Hereditary Spastic paraplegia (HSP) in a family from Southern Italy.

被引:0
|
作者
Straccia, G.
Melone, M. A. B.
机构
[1] Univ Campania Luigi Vanvitelli, Dept Adv Med & Surg Sci, Div Neurol 2, Ctr Rare Dis, Naples, Italy
[2] Univ Campania Luigi Vanvitelli, InterUniv Ctr Res Neurosci, Naples, Italy
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
EPO3247
引用
收藏
页码:1165 / 1165
页数:1
相关论文
共 50 条
  • [21] A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia
    Ki, CS
    Lee, WY
    Han, DH
    Sung, DH
    Lee, KB
    Lee, KA
    Cho, SS
    Cho, SH
    Hwang, H
    Sohn, KM
    Choi, YJ
    Kim, JW
    JOURNAL OF HUMAN GENETICS, 2002, 47 (09) : 473 - 477
  • [22] A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia
    C.-S. Ki
    W. Y. Lee
    D. H. Han
    D. H. Sung
    K.-B. Lee
    K.-A Lee
    S. S. Cho
    S. Cho
    H. Hwang
    K. M. Sohn
    Y. J. Choi
    J.-W. Kim
    Journal of Human Genetics, 2002, 47 : 473 - 477
  • [23] Mutations in a novel GTPase cause autosomal dominant hereditary spastic paraplegia.
    Zhao, X
    Alvarado, D
    Rainier, S
    Lemons, R
    Hedera, P
    Weber, C
    Tukel, T
    Apak, M
    Heiman-Patterson, T
    Ming, L
    Buil, M
    Fink, JK
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 195 - 195
  • [24] Cold temperature improves mobility and survival in Drosophila models of autosomal-dominant hereditary spastic paraplegia (AD-HSP)
    Baxter, Sally L.
    Allard, Denise E.
    Crowl, Christopher
    Sherwood, Nina Tang
    DISEASE MODELS & MECHANISMS, 2014, 7 (08) : 1005 - 1012
  • [25] MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia
    Selcuk, Ece
    Kirimtay, Koray
    Temizci, Benan
    Akarsu, Seyma
    Everest, Elif
    Baslo, Mehmet Baris
    Demirkiran, Meltem
    Yapici, Zuhal
    Karabay, Arzu
    MOLECULAR GENETICS AND GENOMICS, 2022, 297 (04) : 1141 - 1150
  • [26] Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
    Sauter, S
    Miterski, B
    Klimpe, S
    Bönsch, D
    Schöls, L
    Visbeck, A
    Papke, T
    Hopf, HC
    Engel, W
    Deufel, T
    Epplen, JT
    Neesen, J
    HUMAN MUTATION, 2002, 20 (02) : 127 - 132
  • [27] Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
    Kaneko, Satoshi
    Kawarai, Toshitaka
    Yip, Edwin
    Salehi-Rad, Shabnam
    Sato, Christine
    Orlacchio, Antonio
    Bernardi, Giorgio
    Liang, Yan
    Hasegawa, Hiroshi
    Rogaeva, Ekaterina
    St George-Hyslop, Peter
    MOVEMENT DISORDERS, 2006, 21 (09) : 1531 - 1533
  • [28] MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia
    Ece Selçuk
    Koray Kırımtay
    Benan Temizci
    Şeyma Akarsu
    Elif Everest
    Mehmet Barış Baslo
    Meltem Demirkıran
    Zuhal Yapıcı
    Arzu Karabay
    Molecular Genetics and Genomics, 2022, 297 : 1141 - 1150
  • [29] Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation
    Lamartine S. Monteiro, Marta
    Vandernoot, Isabelle
    Desmyter, Laurence
    Wermenbol, Vanessa
    Naeije, Gilles
    Remiche, Gauthier
    CLINICAL GENETICS, 2020, 98 (04) : 416 - 417
  • [30] Linkage analysis in an Italian family affected by autosomal dominant pure hereditary spastic paraplegia
    Caputo, V
    Brancati, F
    Valente, E
    Bertini, E
    Patrono, C
    Santorelli, F
    Salvi, S
    Pizzuti, A
    Dallapiccola, B
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 265 - 265