A novel frameshift DDHD1 mutation in a patient with hereditary spastic paraplegia type 28: Case report and review of the literature

被引：1
|
作者：
Pinheiro, Rita Goncalo [1 ,7 ]
Rato, Miguel Leal [2 ,3 ]
Silva, Claudia Santos [2 ,4 ]
Soares, Marta P. [5 ]
Carvalho, Vanessa [2 ,6 ]
Guedes, Leonor Correia [2 ,6 ]
机构：
[1] Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, Amadora, Portugal
[2] Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurociencias & Saude Mental, Serv Neurol, Lisbon, Portugal
[3] Univ Lisbon, Inst Farmacol & Neurociencias, Fac Med, Lisbon, Portugal
[4] Univ Lisbon, Inst Fisiol, Fac Med, Lisbon, Portugal
[5] Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Pediat, Serv Genet Med, Lisbon, Portugal
[6] Univ Lisbon, Fac Med, Ctr Estudos Egas Moniz, Lisbon, Portugal
[7] Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, IC19, P-2720276 Amadora, Portugal
来源：
PARKINSONISM & RELATED DISORDERS | 2024年 / 118卷
关键词：
Hereditary spastic paraplegia; DDHD1; HSP28; PARAPARESIS; DDHD1; FORM;
D O I：
10.1016/j.parkreldis.2023.105931
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页数：4
相关论文
共 50 条
  • [11] Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review
    Zhang, Chao
    Zhu, Xiaowei
    Zhu, Zeyu
    Ni, Ruilong
    Liu, Taotao
    Zheng, Haoran
    Liu, Shihua
    Cao, Li
    Zhong, Ping
    Tian, Wotu
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [12] Hereditary spastic paraplegia with sensory neuropathy: case report and review of the literature
    Marks, HG
    Miller, F
    Curtis, M
    ANNALS OF NEUROLOGY, 1999, 46 (03) : 549 - 549
  • [13] A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia
    Hansen, Jakob
    Svenstrup, Kirsten
    Ang, Debbie
    Nielsen, Marit N.
    Christensen, Jane H.
    Gregersen, Niels
    Nielsen, Jorgen E.
    Georgopoulos, Costa
    Bross, Peter
    JOURNAL OF NEUROLOGY, 2007, 254 (07) : 897 - 900
  • [14] A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia
    J. Hansen
    K. Svenstrup
    D. Ang
    M. N. Nielsen
    J. H. Christensen
    N. Gregersen
    J. E. Nielsen
    C. Georgopoulos
    P. Bross
    Journal of Neurology, 2007, 254 : 897 - 900
  • [15] Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26
    Lai, Ze-hua
    Liu, Xiao-ying
    Song, Yuan-yue
    Zhou, Hai-yan
    Zeng, Li-li
    FRONTIERS IN NEUROLOGY, 2023, 14
  • [16] Novel SPAST Deletion Mutation in an American Family with Hereditary Spastic Paraplegia: A Case Report
    Bhopatkar, Sydney B.
    Huang, Juebin
    JOURNAL OF INVESTIGATIVE MEDICINE, 2024, 72 (06)
  • [17] Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report
    Bhopatkar, Sydney B.
    Huang, Juebin
    JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS, 2025, 13
  • [18] Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
    Rocco Liguori
    Maria Pia Giannoccaro
    Alessia Arnoldi
    Andrea Citterio
    Caterina Tonon
    Raffaele Lodi
    Nereo Bresolin
    Maria Teresa Bassi
    Journal of Neurology, 2014, 261 : 1789 - 1793
  • [19] A NOVEL HFE FRAMESHIFT MUTATION IN A PATIENT WITH HEREDITARY HEMOCHROMATOSIS TYPE 1
    Majore, Silvia
    Radio, Francesca Clementina
    Trasarti, Stefania
    Valiante, Michele
    De Bernardo, Carmelilia
    Grammatico, Paola
    AMERICAN JOURNAL OF HEMATOLOGY, 2013, 88 (05) : E209 - E209
  • [20] Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
    Liguori, Rocco
    Giannoccaro, Maria Pia
    Arnoldi, Alessia
    Citterio, Andrea
    Tonon, Caterina
    Lodi, Raffaele
    Bresolin, Nereo
    Bassi, Maria Teresa
    JOURNAL OF NEUROLOGY, 2014, 261 (09) : 1789 - 1793
12345