The C9orf72 hexanucleotide repeat expansion in FTD and ALS

被引:0
|
作者
Eileen H. Bigio
机构
[1] Northwestern University Feinberg School of Medicine,Department of Pathology and Northwestern University Alzheimer Disease Center
来源
关键词
D O I
暂无
中图分类号
学科分类号
摘要
Two new studies provide strong evidence for the link between mutations in the C9orf72 gene and familial frontotemporal dementia or amyotrophic lateral sclerosis. One of the papers presents some unique associations between clinical features and C9orf72 mutation, and raises questions regarding the specificity of some previously reported pathological findings.
引用
收藏
页码:249 / 250
页数:1
相关论文
共 50 条
  • [41] Biomarker development for C9orf72 repeat expansion in ALS
    Mendez, Emily F.
    Sattler, Rita
    BRAIN RESEARCH, 2015, 1607 : 26 - 35
  • [42] Structural insight into C9orf72 hexanucleotide repeat expansions: Towards new therapeutic targets in FTD-ALS
    Kumar, Vijay
    Kashav, Tara
    Islam, Asimul
    Ahmad, Faizan
    Hassan, Md. Imtaiyaz
    NEUROCHEMISTRY INTERNATIONAL, 2016, 100 : 11 - 20
  • [43] RAN translation in C9orf72 ALS/FTD and other repeat opportunities
    Ranum, L.
    NEUROMUSCULAR DISORDERS, 2023, 33 : S129 - S129
  • [44] The ALS/FTD-related C9orf72 hexanucleotide repeat expansion forms RNA condensates through multimolecular G-quadruplexes
    Raguseo, Federica
    Wang, Yiran
    Li, Jessica
    Howe, Marija Petric
    Balendra, Rubika
    Huyghebaert, Anouk
    Vadukul, Devkee M.
    Tanase, Diana A.
    Maher, Thomas E.
    Malouf, Layla
    Rubio-Sanchez, Roger
    Aprile, Francesco A.
    Elani, Yuval
    Patani, Rickie
    Di Michele, Lorenzo
    Di Antonio, Marco
    NATURE COMMUNICATIONS, 2023, 14 (01)
  • [45] The ALS/FTD-related C9orf72 hexanucleotide repeat expansion forms RNA condensates through multimolecular G-quadruplexes
    Federica Raguseo
    Yiran Wang
    Jessica Li
    Marija Petrić Howe
    Rubika Balendra
    Anouk Huyghebaert
    Devkee M. Vadukul
    Diana A. Tanase
    Thomas E. Maher
    Layla Malouf
    Roger Rubio-Sánchez
    Francesco A. Aprile
    Yuval Elani
    Rickie Patani
    Lorenzo Di Michele
    Marco Di Antonio
    Nature Communications, 14
  • [46] C9orf72 repeat expansions are restricted to the ALS-FTD spectrum
    Ticozzi, Nicola
    Tiloca, Cinzia
    Calini, Daniela
    Gagliardi, Stella
    Altieri, Alessandra
    Colombrita, Claudia
    Cereda, Cristina
    Ratti, Antonia
    Pezzoli, Gianni
    Borroni, Barbara
    Goldwurm, Stefano
    Padovani, Alessandro
    Silani, Vincenzo
    NEUROBIOLOGY OF AGING, 2014, 35 (04) : 936.e13 - 936.e17
  • [47] Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD
    Schmitz, Alexander
    Pinheiro Marques, Joao
    Oertig, Irina
    Maharjan, Niran
    Saxena, Smita
    FRONTIERS IN CELLULAR NEUROSCIENCE, 2021, 15
  • [48] Secondary mania as a possible presentation of a C9orf72 hexanucleotide repeat expansion
    Saridin, Francis N.
    Schouws, Sigfried N. T. M.
    de Jong, Jeroen
    Pijnenburg, Yolande A. L.
    Dols, Annemiek
    BIPOLAR DISORDERS, 2019, 21 (01) : 90 - 92
  • [49] No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients
    Yuta Yoshino
    Yoko Mori
    Shinichiro Ochi
    Shusuke Numata
    Takashi Ishimaru
    Kiyohiro Yamazaki
    Tetsuro Ohmori
    Shu-ichi Ueno
    Journal of Neural Transmission, 2015, 122 : 731 - 732
  • [50] Clinical and Imaging Findings in a Family with Hexanucleotide Repeat Expansion in C9ORF72
    Viitanen, Matti
    Almkvist, Ove
    Tuominen, Hannu
    Karlsson, Goran
    Myllykangas, Liisa
    Poyhonen, Minna
    Rinne, Juha
    DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 2012, 33 : 242 - 243