A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism

被引：0
|
作者：
Yueting Chen
Peng Liu
Fei Xie
Bo Wang
Zhiru Lin
Wei Luo
机构：
[1] Zhejiang University School of Medicine,Department of Neurology, The Second Affiliated Hospital
[2] Zhejiang University School of Medicine,Department of Neurology, Sir Run Run Shaw Hospital
来源：
Neurological Sciences | 2022年 / 43卷
关键词：
De novo; Parkinsonism; Early-onset Alzheimer’s disease; PET/MRI;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1405 / 1409
页数：4
相关论文
共 50 条
  • [41] Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants
    Previtali, Roberto
    Leidi, Alessia
    Basso, Martina
    Izzo, Giana
    Stignani, Cecilia
    Spaccini, Luigina
    Iascone, Maria
    Veggiotti, Pierangelo
    Bova, Stefania Maria
    FRONTIERS IN NEUROLOGY, 2023, 14
  • [42] Early-onset parkinsonism induced by pallidal deep brain stimulation in cervical dystonia
    Ba, Fang
    Scott, Ingrid
    Camicioli, Richard
    Martin, W. R. Wayne
    Sankar, Tejas
    PARKINSONISM & RELATED DISORDERS, 2016, 29 : 140 - 142
  • [43] A Novel Presenilin-1 Mutation (Leu226Val) In Early Onset Alzheimer's Disease With Parkinsonism
    Zilioli, Alessandro
    Misirocchi, Francesco
    Pancaldi, Beatrice
    Mutti, Carlotta
    Ganazzoli, Chiara
    Florindo, Irene
    Spallazzi, Marco
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2024, 51 (05) : 703 - 706
  • [44] Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation
    Bhattacharjee, Shakya
    Noushad, Muhammad
    Sadler, Martin
    NEUROLOGY INDIA, 2021, 69 (04) : 1051 - 1052
  • [45] PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability
    Bagyinszky, Eva
    Kim, Minju
    Park, Young Ho
    An, Seong Soo A.
    Kim, Sangyun
    Liampas, Ioannis
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (01)
  • [46] Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease
    Bagaria, Jaya
    Moon, Yeonsil
    Bagyinszky, Eva
    Shim, Kyu Hwan
    An, Seong Soo A.
    Kim, SangYun
    Han, Seol Heui
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [47] Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant
    Yip, Silas
    Calli, Kristina
    Qiao, Ying
    Trost, Brett
    Scherer, Stephen W.
    Lewis, M. E. Suzanne
    GENES, 2023, 14 (12)
  • [48] Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer’s disease: clinical characteristics and genetic identification
    Hee-Jin Kim
    Hyun Young Kim
    Chang-Seok Ki
    Seung Hyun Kim
    Neurological Sciences, 2010, 31 : 781 - 783
  • [49] Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification
    Kim, Hee-Jin
    Kim, Hyun Young
    Ki, Chang-Seok
    Kim, Seung Hyun
    NEUROLOGICAL SCIENCES, 2010, 31 (06) : 781 - 783
  • [50] PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
    Fevga, Christina
    Tesson, Christelle
    Mascaro, Ana Carreras
    Courtin, Thomas
    van Coller, Riaan
    Sakka, Salma
    Ferraro, Federico
    Farhat, Nouha
    Bardien, Soraya
    Damak, Mariem
    Carr, Jonathan
    Ferrien, Melanie
    Boumeester, Valerie
    Hundscheid, Jasmijn
    Grillenzoni, Nicola
    Kessissoglou, Irini A.
    Kuipers, Demy J. S.
    Quadri, Marialuisa
    Corvol, Jean-Christophe
    Mhiri, Chokri
    Hassan, Bassem A.
    Breedveld, Guido J.
    Lesage, Suzanne
    Mandemakers, Wim
    Brice, Alexis
    Bonifati, Vincenzo
    BRAIN, 2022, : 1496 - 1510
12345