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 50 条
  • [21] Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
    Oh, Ja-Young
    Do, Hyun Jung
    Lee, Seungok
    Jang, Ja-Hyun
    Cho, Eun-Hae
    Jang, Dae-Hyun
    ANNALS OF REHABILITATION MEDICINE-ARM, 2016, 40 (06): : 1129 - 1134
  • [22] Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature
    Khorrami, Mehdi
    Tabatabaiefar, Mohammad Amin
    Khorram, Erfan
    Yaghini, Omid
    Rezaei, Mojgan
    Hejazifar, Arash
    Riahinezhad, Maryam
    Kheirollahi, Majid
    JOURNAL OF HUMAN GENETICS, 2021, 66 (10) : 973 - 981
  • [23] Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature
    Mehdi Khorrami
    Mohammad Amin Tabatabaiefar
    Erfan Khorram
    Omid Yaghini
    Mojgan Rezaei
    Arash Hejazifar
    Maryam Riahinezhad
    Majid Kheirollahi
    Journal of Human Genetics, 2021, 66 : 973 - 981
  • [24] 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
  • [25] Clinical features and genotype in COQ4 associated hereditary spastic paraplegia: a case report and a literature reanalysis
    Yu, Zhe
    Wang, Rongfei
    Xiang, Feng
    Zhang, Xu
    Yu, Shengyuan
    Wang, Xiangqing
    NEUROLOGICAL SCIENCES, 2025, : 2223 - 2228
  • [26] 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
  • [27] 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
  • [28] HEREDITARY SPASTIC PARAPLEGIA ASSOCIATED WITH A KIF1A SILENT MUTATION: A CASE REPORT
    Faridi, Warda
    Faridi, Shanza
    Hollinger, Jared
    MUSCLE & NERVE, 2022, 66 : S44 - S44
  • [29] Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease
    Breza, Marianthi
    Hirst, Jennifer
    Chelban, Viorica
    Banneau, Guillaume
    Tissier, Laurene
    Kol, Bophara
    Bourinaris, Thomas
    Said, Samia A.
    Pereon, Yann
    Heinzmann, Anna
    Debs, Rabab
    Juntas-Morales, Raul
    Martinez, Victoria G.
    Camdessanche, Jean P.
    Scherer-Gagou, Clarisse
    Zola, Jean-Medard
    Athanasiou-Fragkouli, Alkyoni
    Efthymiou, Stephanie
    Vavougios, George
    Velonakis, Georgios
    Stamelou, Maria
    Tzartos, John
    Potagas, Constantin
    Zambelis, Thomas
    Mariotti, Caterina
    Blackstone, Craig
    Vandrovcova, Jana
    Mavridis, Theodoros
    Kartanou, Chrisoula
    Stefanis, Leonidas
    Wood, Nicholas
    Karadima, Georgia
    LeGuern, Eric
    Koutsis, Georgios
    Houlden, Henry
    Stevanin, Giovanni
    MOVEMENT DISORDERS, 2021, 36 (04) : 1034 - 1038
  • [30] SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review
    Spagnoli, Carlotta
    Schiavoni, Silvia
    Rizzi, Susanna
    Salerno, Grazia Gabriella
    Frattini, Daniele
    Koskenvuo, Juha
    Fusco, Carlo
    JOURNAL OF CLINICAL NEUROSCIENCE, 2021, 94 : 281 - 285
12345