400
Views
0
CrossRef citations to date
0
Altmetric
Brief Reports

Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome

, , &
Pages 347-350 | Received 03 Oct 2022, Accepted 22 Dec 2022, Published online: 05 Jan 2023

References

  • Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, et al. Hot-spot KIF5A mutations cause familial ALS. Brain. 2018;141:688–97.
  • Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, et al. Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron. 2018;97:1268–83.e6.
  • Zou Z-Y, Che C-H, Feng S-Y, Fang X-Y, Huang H-P, Liu C-Y. Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2021;22:73–9.
  • Chami AA, Beltran S, Corcia P, Andres CR, Laumonnier F, Blasco H, et al. A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2020;21:463–6.
  • Zhan Z, Shu Y, Zhao Y, Peng J, Qin B. A novel nonsense SOD1 mutation (p.Asn140Ter) in a sporadic amyotrophic lateral sclerosis case with rapid progression. Amyotroph Lateral Scler Frontotemporal Degener. 2021;22:583–4.
  • de Boer EMJ, van Rheenen W, Goedee HS, Kamsteeg EJ, Brilstra EH, Veldink JH, et al. Genotype–phenotype correlations of KIF5A stalk domain variants. Amyotroph Lateral Scler Frontotemporal Degener. 2021;22:561–70.
  • Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Keagle PJ, et al. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. Cell Rep. 2022;39:110598.
  • Bendotti C, Bonetto V, Pupillo E, Logroscino G, Al-Chalabi A, Lunetta C, et al. Focus on the heterogeneity of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2020;21:485–95.
  • Mitsumoto H, Garofalo DC, Gilmore M, Andrews L, Santella RM, Andrews H, et al. Case-control study in ALS using the National ALS Registry: lead and agricultural chemicals are potential risk factors. Amyotroph Lateral Scler Frontotemporal Degener. 2022;23:190–202.
  • Barć K, Kuźma-Kozakiewicz M. Gastrostomy and mechanical ventilation in amyotrophic lateral sclerosis: how best to support the decision-making process? Neurol Neurochir Pol. 2020;54:366–77.
  • Cunningham F, Allen JE, Allen J, Alvarez-Jarreta J, Amode MR, Armean IM, et al. Ensembl 2022. Nucleic Acids Res. 2022;50:D988–D95.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.