Advanced search
Publication Cover
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 23, 2022 - Issue 7-8
Submit an article Journal homepage
179
Views
1
CrossRef citations to date
0
Altmetric
Brief Reports

Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity

Imen Kacem1 Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia;2 Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia;3 Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia
,
Ikram Sghaier1 Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia;3 Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia
,
Nicola Ticozzi4 Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy;5 Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Milan, Italy
,
Saloua Mrabet1 Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia;2 Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia;3 Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, TunisiaORCID Iconhttps://orcid.org/0000-0003-2718-1828
ORCID Icon,
Silvia Paverelli4 Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy
,
Amina Nasri1 Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia;2 Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia;3 Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia
,
Antonia Ratti4 Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy;6 Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Segrate, Milan, Italy
,
Mouna Ben Djebara1 Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia;2 Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia;3 Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia
,
Amina Gargouri-Berrachid1 Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia;2 Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia;3 Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, Tunisia
,
Vincenzo Silani4 Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy;5 Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Milan, Italy;7 Aldo Ravelli” Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, Milan, ItalyORCID Iconhttps://orcid.org/0000-0002-7698-3854
ORCID Icon &
Riadh Gouider1 Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia;2 Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia;3 Clinical Investigation Center (CIC) "Neurosciences and Mental Health", Razi Universitary Hospital, Tunis, TunisiaCorrespondence[email protected]
 show all
Pages 623-626 | Received 07 Mar 2022, Accepted 30 May 2022, Published online: 05 Jul 2022

References

  • Erkkinen MG, Kim M-O, Geschwind MD. Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases. Cold Spring Harb Perspect Biol. 2018;10:a033118.
  • Jo M, Lee S, Jeon Y-M, Kim S, Kwon Y, Kim H-J. The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies. Exp Mol Med. 2020;52:1652–62.
  • Huang W, Zhou Y, Tu L, Ba Z, Huang J, Huang N, et al. TDP-43: From Alzheimer’s Disease to Limbic-Predominant Age-Related TDP-43 Encephalopathy. Front Mol Neurosci 2020;13:26.
  • Budini M, Buratti E, Morselli E, Criollo A. Autophagy and Its Impact on Neurodegenerative Diseases: New Roles for TDP-43 and C9orf72. Front Mol Neurosci. 2017;10:170.
  • Ben‐Omran T, Al Ghanim K, Yavarna T, El Akoum M, Samara M, Chandra P, et al. Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar. Mol Genet Genomic Med. 2020;8:e1051.
  • Ben Halim N, Ben Alaya Bouafif N, Romdhane L, Kefi Ben Atig R, Chouchane I, Bouyacoub Y, et al. Consanguinity, endogamy, and genetic disorders in Tunisia. J Community Genet. 2013;4:273–84.
  • Corrado L, Pensato V, Croce R, Di Pierro A, Mellone S, Dalla Bella E, et al. The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS? Amyotroph Lateral Scler Frontotemporal Degener. 2020;21:273–9.
  • Quadri M, Cossu G, Saddi V, Simons EJ, Murgia D, Melis M, et al. Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia. Neurogenetics 2011;12:203–9.
  • Charoniti E, Papastefanopoulou V, Florou-Hatziyiannidou C, Koros C, Stanitsa E, Papatriantafyllou JD, et al. TARDBP p.I383V, a recurrent alteration in Greek FTD patients. J Neurol Sci. 2021;428:117566.

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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.