Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia

被引：0
|
作者：
Miao Zhao
Yi-Jun Chen
Meng-Wen Wang
Xiao-Hong Lin
En-Lin Dong
Wan-Jin Chen
Ning Wang
Xiang Lin
机构：
[1] The First Affiliated Hospital of Fujian Medical University,Department of Neurology and Institute of Neurology
[2] Fujian Medical University,Fujian Key Laboratory of Molecular Neurology
来源：
Molecular Diagnosis & Therapy | 2019年 / 23卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：781 / 789
页数：8
相关论文
共 50 条
  • [31] ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family
    Li, Rui
    Liu, Xuan
    Ke, Chenming
    Zeng, Fanli
    Zeng, Qingyi
    Xu, Xiaowei
    Fan, Xiaoqin
    Zhang, Ying
    Hou, Qinghua
    FRONTIERS IN NEUROLOGY, 2024, 15
  • [32] Atlastin mutations are frequent in young onset autosomal dominant spastic paraplegia
    Durr, A
    Camuzat, A
    Tallaksen, C
    Hannequin, D
    Coutinho, P
    Fontaine, B
    Rossi, A
    Gil, R
    Rousselle, C
    Ruberg, M
    Brice, A
    Stevanin, G
    NEUROLOGY, 2004, 62 (07) : A2 - A2
  • [33] Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia
    Reid, E
    Grayson, C
    Rubinsztein, DC
    Rogers, MT
    Rubinsztein, JS
    JOURNAL OF MEDICAL GENETICS, 1999, 36 (10) : 797 - 798
  • [34] Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
    Fonknechten, N
    Mavel, D
    Byrne, P
    Davoine, CS
    Cruaud, C
    Boentsch, D
    Samson, D
    Coutinho, P
    Hutchinson, M
    McMonagle, P
    Burgunder, JM
    Tartaglione, A
    Heinzlef, O
    Feki, I
    Deufel, T
    Parfrey, N
    Brice, A
    Fontaine, B
    Prud'homme, JF
    Weissenbach, J
    Dürr, A
    Hazan, J
    HUMAN MOLECULAR GENETICS, 2000, 9 (04) : 637 - 644
  • [35] Identification of a new form of autosomal dominant hereditary spastic paraplegia (HSP)
    Subramony, S. H.
    Parent, Andrew D.
    Zhang, Jun
    NEUROLOGY, 2008, 70 (11) : A141 - A142
  • [36] Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegia
    Rodrigues, Rita
    Silva, Renata
    Branco, Mariana
    Brandao, Eva
    Alonso, Isabel
    Ruano, Luis
    Loureiro, Jose Leal
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2020, 410
  • [37] A novel, autosomal dominant, complicated spastic paraplegia in adults with genetic anticipation and severe generalized dystonia in childhood
    Gilbert, DL
    Leslie, ND
    Lipps, TD
    Reed, LM
    Kretchmann, RM
    MOVEMENT DISORDERS, 2005, 20 : S30 - S30
  • [38] Extensive genetic heterogeneity in the ''pure'' form of autosomal dominant familial spastic paraplegia (Strumpell's disease)
    Kobayashi, H
    Garcia, CA
    Tay, PN
    Hoffman, EP
    MUSCLE & NERVE, 1996, 19 (11) : 1435 - 1438
  • [39] Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia
    Padmanabha, Hansashree
    Mahale, Rohan
    Christopher, Rita
    Arunachal, Gautham
    Bhat, Maya
    Mondal, Mahammad Samim
    Anjanappa, Ram Murthy
    Mundlamuri, Ravindranadh Chowdhary
    Yadav, Ravi
    Vengalil, Seena
    Mailankody, Pooja
    Mathuranath, Pavagada S.
    Chandra, Sadanandavalli R.
    Nalini, Atchayaram
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2021, 24 (06) : 908 - 916
  • [40] Clinical and genetic research in a large Ukrainian family with autosomal recessive hereditary spastic paraplegia
    Orlacchio, A.
    Stasi, M.
    Stigliano, A.
    Miele, M.
    Gaudiello, F.
    Meyyazhagan, A.
    MOVEMENT DISORDERS, 2022, 37 : S291 - S291
12345