Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia

被引:0
|
作者
Giacomozzi, Sebastiano [1 ]
Bonan, Luigi [1 ]
La Morgia, Chiara [1 ,2 ]
Carbonelli, Michele [1 ]
Santucci, Margherita [1 ]
Isidori, Federica [3 ]
Pippucci, Tommaso [3 ]
Liguori, Rocco [1 ,2 ]
Rizzo, Giovanni [2 ]
机构
[1] Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy
[2] IRCCS Ist Sci Neurol Bologna, Osped Bellaria, UOC Clin Neurol, Bologna, Italy
[3] IRCCS Azienda Osped Univ Bologna, Bologna, Italy
来源
MOVEMENT DISORDERS CLINICAL PRACTICE | 2025年
关键词
HSP; SPG26; dystonia; spastic paraplegia; optic atrophy; SYNTHASE;
D O I
10.1002/mdc3.70062
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 10 条
  • [1] Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26
    Dad, Rubina
    Malik, Uzma
    Javed, Aneela
    Minassian, Berge A.
    Hassan, Muhammad Jawad
    GENE, 2017, 626 : 258 - 263
  • [2] Co-incident primary progressive multiple sclerosis and hereditary spastic paraplegia (SPG4) - a case report
    Boucher, John J.
    Counihan, Timothy J.
    MULTIPLE SCLEROSIS AND RELATED DISORDERS, 2020, 44
  • [3] Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population
    Inamori, Kei-ichiro
    Nakamura, Katsuya
    Shishido, Fumi
    Hsu, Jia-Chen
    Nagafuku, Masakazu
    Nitta, Takahiro
    Ikeda, Junji
    Yoshimura, Hidekane
    Kodaira, Minori
    Tsuchida, Naomi
    Matsumoto, Naomichi
    Uemura, Satoshi
    Ohno, Shiho
    Manabe, Noriyoshi
    Yamaguchi, Yoshiki
    Togayachi, Akira
    Aoki-Kinoshita, Kiyoko F.
    Nishihara, Shoko
    Furukawa, Jun-ichi
    Kaname, Tadashi
    Nakamura, Masahiko
    Shimohata, Takayoshi
    Tadaka, Shu
    Shirota, Matsuyuki
    Kinoshita, Kengo
    Nakamura, Yutaka
    Ohno, Isao
    Sekijima, Yoshiki
    Inokuchi, Jin-ichi
    FRONTIERS IN NEUROSCIENCE, 2024, 18
  • [4] Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
    Bauer, Peter
    Leshinsky-Silver, Esther
    Blumkin, Lubov
    Schlipf, Nina
    Schroeder, Christopher
    Schicks, Julia
    Lev, Dorit
    Riess, Olaf
    Lerman-Sagie, Tally
    Schoels, Ludger
    NEUROGENETICS, 2012, 13 (01) : 73 - 76
  • [5] Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
    Peter Bauer
    Esther Leshinsky-Silver
    Lubov Blumkin
    Nina Schlipf
    Christopher Schröder
    Julia Schicks
    Dorit Lev
    Olaf Riess
    Tally Lerman-Sagie
    Ludger Schöls
    neurogenetics, 2012, 13 : 73 - 76
  • [6] Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis
    Alecu, Julian Emanuel
    Ohmi, Yuhsuke
    Bhuiyan, Robiul H.
    Inamori, Kei-ichiro
    Nitta, Takahiro
    Saffari, Afshin
    Jumo, Hellen
    Ziegler, Marvin
    de Gusmao, Claudio Melo
    Sharma, Nutan
    Ohno, Shiho
    Manabe, Noriyoshi
    Yamaguchi, Yoshiki
    Kambe, Mariko
    Furukawa, Keiko
    Sahin, Mustafa
    Inokuchi, Jin-ichi
    Furakawa, Koichi
    Ebrahimi-Fakhari, Darius
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (09) : 2590 - 2598
  • [7] Early Diagnosis of AP5Z1 /SPG48 Spastic Paraplegia: Case Report and Review of the Literature
    Papoff, Francesca M. A.
    Astrea, Guja
    Mero, Serena
    Chicca, Laura
    Satolli, Sara
    Pasquariello, Rosa
    Battini, Roberta
    Tessa, Alessandra
    Santorelli, Filippo M.
    NEUROPEDIATRICS, 2024, 55 (05) : 341 - 346
  • [8] AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range
    Salayev, Kamran
    Rocca, Clarissa
    Kaiyrzhanov, Rauan
    Guliyeva, Ulviyya
    Guliyeva, Sughra
    Mursalova, Aytan
    Rahman, Fatima
    Anwar, Najwa
    Zafar, Faisal
    Jan, Farida
    Rana, Nuzhat
    Maqbool, Shazia
    Efthymiou, Stephanie
    Houlden, Henry
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (11)
  • [9] Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47
    Wiseman, Jessica P.
    Scarrott, Joseph M.
    Alves-Cruzeiro, Joao
    Saffari, Afshin
    Boger, Cedric
    Karyka, Evangelia
    Dawes, Emily
    Davies, Alexandra K.
    Marchi, Paolo M.
    Graves, Emily
    Fernandes, Fiona
    Yang, Zih-Liang
    Coldicott, Ian
    Hirst, Jennifer
    Webster, Christopher P.
    Highley, J. Robin
    Hackett, Neil
    Angyal, Adrienn
    de Silva, Thushan
    Higginbottom, Adrian
    Shaw, Pamela J.
    Ferraiuolo, Laura
    Ebrahimi-Fakhari, Darius
    Azzouz, Mimoun
    EMBO MOLECULAR MEDICINE, 2024, 16 (11) : 2882 - 2917
  • [10] Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant
    Nakamura, Haruko
    Doi, Hiroshi
    Miyaji, Yosuke
    Wada, Taishi
    Takahashi, Erisa
    Tada, Mikiko
    Fukuda, Hiromi
    Fujita, Atsushi
    Higashiyama, Yuichi
    Nagao, Yuri
    Kimura, Kazue
    Hayashi, Masaharu
    Hoshino, Kyoko
    Matsumoto, Naomichi
    Tanaka, Fumiaki
    BMC NEUROLOGY, 2024, 24 (01)