The Clinical And Molecular Spectrum Of ZFYVE26-Associated Hereditary Spastic Paraplegia (SPG15)

被引：0
|
作者：
Saffari, Afshin [1 ]
Jordan, Catherine [1 ]
Mo, Alisa [1 ]
Zhang, Bo [1 ]
Sahin, Mustafa [1 ]
Blackstone, Craig [2 ]
Yang, Edward [1 ]
Ebrahimi-Fakhari, Darius [1 ]
机构：
[1] Boston Childrens Hosp, Boston, MA USA
[2] Massachusetts Gen Hosp, Boston, MA USA
来源：
NEUROLOGY | 2023年 / 100卷 / 17期
关键词：
D O I：
10.1212/WNL.0000000000201952
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P13-11.005
引用
收藏
页数：4
相关论文
共 50 条
  • [21] Identification of the SPG15 (Spastizin) gene, responsible for an autosomal recessive complicated spastic paraplegia
    Hanein, S.
    Martin, E.
    Boukhris, A.
    Byrne, P.
    Goizet, C.
    Hamri, A.
    Benomar, A.
    Lossos, A.
    Denora, P.
    Hutchinson, M.
    Santorelli, F. M.
    Mhiri, C.
    Brice, A.
    Stevanin, G.
    EUROPEAN JOURNAL OF NEUROLOGY, 2008, 15 : 177 - 177
  • [22] An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG11, SPG7 and SPG15
    Vander Stichele, G.
    Durr, A.
    Yoon, G.
    Schuele, R.
    Blackstone, C.
    Esposito, G.
    Buffel, C.
    Oliveira, I.
    Freitag, C.
    van Rooijen, S.
    Hoffmann, S.
    Thielemans, L.
    Cowling, B.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S158 - S158
  • [23] ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis
    Vantaggiato, Chiara
    Panzeri, Elena
    Castelli, Marianna
    Citterio, Andrea
    Arnoldi, Alessia
    Santorelli, Filippo Maria
    Liguori, Rocco
    Scarlato, Marina
    Musumeci, Olimpia
    Toscano, Antonio
    Clementi, Emilio
    Bassi, Maria Teresa
    AUTOPHAGY, 2019, 15 (01) : 34 - 57
  • [24] Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia
    Giacomozzi, Sebastiano
    Bonan, Luigi
    La Morgia, Chiara
    Carbonelli, Michele
    Santucci, Margherita
    Isidori, Federica
    Pippucci, Tommaso
    Liguori, Rocco
    Rizzo, Giovanni
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2025,
  • [25] An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15
    Geert Vander Stichele
    Alexandra Durr
    Grace Yoon
    Rebecca Schüle
    Craig Blackstone
    Giovanni Esposito
    Connor Buffel
    Inês Oliveira
    Christian Freitag
    Stephane van Rooijen
    Stéphanie Hoffmann
    Leen Thielemans
    Belinda S. Cowling
    BMC Neurology, 22
  • [26] 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
  • [27] Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case series
    Brooks, Alexandra K.
    Quiroz, Vicente
    Schierbaum, Luca
    Tam, Amy
    Alecu, Julian E.
    Ebrahimi-Fakhari, Darius
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2025, 12 (03): : 648 - 652
  • [28] Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families
    Pashaei, Mahdieh
    Davarzani, Atefeh
    Hajati, Reza
    Zamani, Babak
    Nafissi, Shahriar
    Larti, Farzaneh
    Nilipour, Yalda
    Rohani, Mohammad
    Alavi, Afagh
    JOURNAL OF NEUROGENETICS, 2021, 35 (02) : 84 - 94
  • [29] Clinical analysis in patients with SPG11 hereditary spastic paraplegia
    Kang, You-Ri
    Nam, Tai-Seung
    Kim, Jae-Myung
    Kang, Kyung Wook
    Choi, Seong-Min
    Lee, Seung-Han
    Kim, Byeong C.
    Kim, Myeong-Kyu
    FRONTIERS IN NEUROLOGY, 2023, 14
  • [30] A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene
    Ozdemir, Taha Resid
    Gencpinar, Pinar
    Arican, Pinar
    Oztekin, Ozgur
    Dundar, Nihal Olgac
    Ozyilmaz, Berk
    INTERNATIONAL JOURNAL OF NEUROSCIENCE, 2019, 129 (12) : 1198 - 1202
12345