Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Volume 25, Issue 1-2 (2024)

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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Volume 25, Issue 1-2 (2024)

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Review

Review Article
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review
Xin Xiao, Min Li, Zhi Ye, Xiaoyan He, Jun Wei & Yunhong Zha
Pages: 1-15
Published online: 23 Jan 2024
AbstractforFUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review | Full Text | References | PDF (638.2 KB) | EPUB
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Clinical

Article
Misdiagnosis of amyotrophic lateral sclerosis in clinical practice in Europe and the USA: a patient chart review and physician survey
Namita A. Goyal, Kerina Bonar, Natasa Savic, Raphaëlle Beau Lejdstrom, Jack Wright, Jennifer Mellor & Christopher McDermott
Pages: 16-25
Published online: 23 Jan 2024
AbstractforMisdiagnosis of amyotrophic lateral sclerosis in clinical practice in Europe and the USA: a patient chart review and physician survey | Full Text | References | PDF (503.9 KB) | EPUB | Supplemental
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Open Access
Article
Harmonized standard operating procedures for administering the ALS functional rating scale-revised
Jeremy M. Shefner, Tommy Bunte, Gale Kittle, Angela Genge & Leonard H van den Berg
Pages: 26-33
Published online: 23 Jan 2024
AbstractforHarmonized standard operating procedures for administering the ALS functional rating scale-revised | Full Text | References | PDF (195 KB) | EPUB
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Open Access
Article
Describing and characterising variability in ALS disease progression
Muzammil Arif Din Abdul Jabbar, Ling Guo, Yang Guo, Zachary Simmons, Erik P. Pioro, Savitha Ramasamy & Crystal Jing Jing Yeo
Pages: 34-45
Published online: 23 Jan 2024
AbstractforDescribing and characterising variability in ALS disease progression | Full Text | References | PDF (3.1 MB) | EPUB | Supplemental
  • 188 Views
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Article
Clinical factors and vascular endothelial growth factor as determinants of disease progression in Indian patients with amyotrophic lateral sclerosis
Aneesha Thomas, Divyani Garg, Achal Kumar Srivastava, Amit Kumar, Awadh Kishor Pandit, Deepti Vibha, Subbiah Vivekanandhan, Garima Shukla & Kameshwar Prasad
Pages: 46-52
Published online: 14 Sep 2023
AbstractforClinical factors and vascular endothelial growth factor as determinants of disease progression in Indian patients with amyotrophic lateral sclerosis | Full Text | References | PDF (193.9 KB) | EPUB
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Article
Familial motor neuron disease: co-occurrence of PLS and ALS (-FTD)
Eva M. J. de Boer, Koen C. Demaegd, Charlotte I. de Bie, Jan H. Veldink, Leonard H. van den Berg & Michael A. van Es
Pages: 53-60
Published online: 07 Sep 2023
AbstractforFamilial motor neuron disease: co-occurrence of PLS and ALS (-FTD) | Full Text | References | PDF (861.2 KB) | EPUB | Supplemental
  • 229 Views
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Article
Non-motor symptoms in amyotrophic lateral sclerosis
Ali Shojaie, Ahmad Al Khleifat, Sarah Opie-Martin, Payam Sarraf & Ammar Al-Chalabi
Pages: 61-66
Published online: 23 Jan 2024
AbstractforNon-motor symptoms in amyotrophic lateral sclerosis | Full Text | References | PDF (504.8 KB) | EPUB
  • 1301 Views
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Open Access
Article
Prognostic value of motor and extramotor involvement in ALS
Vincent Kabir, Fouke Ombelet, Frederik Hobin, Nikita Lamaire, Joke De Vocht & Philip Van Damme
Pages: 67-74
Published online: 23 Jan 2024
AbstractforPrognostic value of motor and extramotor involvement in ALS | Full Text | References | PDF (760.6 KB) | EPUB
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Open Access
Article
Living beyond loss: a qualitative investigation of caregivers’ experiences after the death of their relatives with amyotrophic lateral sclerosis
Eleonora Volpato, Paolo Banfi, Valentina Poletti & Francesco Pagnini
Pages: 75-87
Published online: 06 Sep 2023
AbstractforLiving beyond loss: a qualitative investigation of caregivers’ experiences after the death of their relatives with amyotrophic lateral sclerosis | Full Text | References | PDF (742.6 KB) | EPUB
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Cognition

Article
The Beaumont behavioral intervention in a Chinese amyotrophic lateral sclerosis cohort
Hongning Jia, Zhiguang Li, Huakang Liu, Mengsi Ren, Tingting Liu, Xiaomeng Zhou, Xin Li, Rui Li, Qi Liu, Yaling Liu & Hui Dong
Pages: 88-95
Published online: 23 Jan 2024
AbstractforThe Beaumont behavioral intervention in a Chinese amyotrophic lateral sclerosis cohort | Full Text | References | PDF (314 KB) | EPUB
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Open Access
Article
Development, reliability, validity, and acceptability of the remote administration of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS)
Debbie Gray, Rosemary Lesley, Emily J. Mayberry, Luke Williams, Caroline McHutchison, Judith Newton, Suvankar Pal, Siddharthan Chandran, Sarah E. MacPherson, Sharon Abrahams & MND Consortium
Pages: 96-103
Published online: 23 Jan 2024
AbstractforDevelopment, reliability, validity, and acceptability of the remote administration of the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) | Full Text | References | PDF (698.6 KB) | EPUB
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Open Access

Epidemiology

Article
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study
Corrado Cabona, Pilar Maria Ferraro, Carlo Scialò, Monica Bandettini Di Poggio, Giovanni Novi, Chiara Gemelli, Manuela Vignolo, Fabrizio Rao, Marina Capovilla, Maura Marogna, Paola Mandich, Paola Origone, Angelo Schenone & Claudia Caponnetto
Pages: 104-111
Published online: 23 Jan 2024
AbstractforClinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study | Full Text | References | PDF (265.3 KB) | EPUB
  • 156 Views
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Article
Racial disparities in ALS diagnostic delay: a single center’s experience and review of potential contributing factors
Shanshan Chen, Demetrius Carter, Paula Burke Brockenbrough, Stephen Cox & Kelly Gwathmey
Pages: 112-118
Published online: 23 Jan 2024
AbstractforRacial disparities in ALS diagnostic delay: a single center’s experience and review of potential contributing factors | Full Text | References | PDF (147.5 KB) | EPUB
  • 164 Views
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Article
LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America
Beatriz Vélez-GóMEZ, Abayuba Perna, Cristina Vazquez, Carlos Ketzoian, Patricia Lillo, Gladys Godoy-Reyes, David Sáez, Tatiana Zaldivar Vaillant, Joel Víctor Gutiérrez Gil, Gloria Esther Lara-Fernández, Mónica Povedano, Mark Heverin, Robert McFarlane, Giancarlo Logroscino & Orla Hardiman
Pages: 119-127
Published online: 23 Jan 2024
AbstractforLAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America | Full Text | References | PDF (738 KB) | EPUB
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Article
Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population
I. Kacem, I. Sghaier, S. Peverelli, Y. Abida, H. Ben Brahim, A. Ratti, A. Nasri, N. Ticozzi, V. Silani & R. Gouider
Pages: 128-134
Published online: 23 Jan 2024
AbstractforOptineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population | Full Text | References | PDF (693.9 KB) | EPUB | Supplemental
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Biomarkers

Article
Integrated analysis of transcriptomic and proteomic alterations in mouse models of ALS/FTD identify early metabolic adaptions with similarities to mitochondrial dysfunction disorders
Anna Matveeva, Orla Watters, Ani Rukhadze, Niraj Khemka, Debora Gentile, Ivan Fernandez Perez, Irene Llorente-Folch, Cliona Farrell, Elide Lo Cacciato, Joshua Jackson, Antonia Piazzesi, Lena Wischhof, Ina Woods, Luise Halang, Marion Hogg, Amaya Garcia Muñoz, Eugène T. Dillon, David Matallanas, Ingrid Arijs, Diether Lambrechts, Daniele Bano, Niamh M. C. Connolly & Jochen H. M. Prehn
Pages: 135-149
Published online: 23 Jan 2024
AbstractforIntegrated analysis of transcriptomic and proteomic alterations in mouse models of ALS/FTD identify early metabolic adaptions with similarities to mitochondrial dysfunction disorders | Full Text | References | PDF (2.6 MB) | EPUB | Supplemental
  • 1889 Views
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Open Access
Article
Neurodegenerative biomarkers outperform neuroinflammatory biomarkers in amyotrophic lateral sclerosis
Ulf Kläppe, Stefan Sennfält, Anikó Lovik, Anja Finn, Ulrika Bofaisal, Henrik Zetterberg, Kaj Blennow, Fredrik Piehl, Ivan Kmezic, Rayomand Press, Kristin Samuelsson, Anna Månberg, Fang Fang & Caroline Ingre
Pages: 150-161
Published online: 23 Jan 2024
AbstractforNeurodegenerative biomarkers outperform neuroinflammatory biomarkers in amyotrophic lateral sclerosis | Full Text | References | PDF (1.2 MB) | EPUB | Supplemental
  • 1864 Views
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Open Access
Article
Relationship between quantitative strength and functional outcomes in the phase 2 FORTITUDE-ALS trial
Jeremy M. Shefner, Bill Jacobsen, Stuart Kupfer, Fady I. Malik, Lisa Meng, Jenny Wei, Andrew A Wolff & Stacy A. Rudnicki
Pages: 162-169
Published online: 29 Aug 2023
AbstractforRelationship between quantitative strength and functional outcomes in the phase 2 FORTITUDE-ALS trial | Full Text | References | PDF (1 MB) | EPUB
  • 963 Views
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Open Access
Article
Plasma neurofilament light levels show elevation two years prior to diagnosis of amyotrophic lateral sclerosis in the UK Biobank
Erin N. Smith, Jonghun Lee, Daria Prilutsky, Stephen Zicha, Zemin Wang, Steve Han & Neta Zach
Pages: 170-176
Published online: 23 Jan 2024
AbstractforPlasma neurofilament light levels show elevation two years prior to diagnosis of amyotrophic lateral sclerosis in the UK Biobank | Full Text | References | PDF (802.6 KB) | EPUB | Supplemental
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Genomics

Article
Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders
Cathrine Goberg Olsen, Øyvind Løvold Busk, Øystein Lunde Holla, Kristian Tveten, Trygve Holmøy, Ole-Bjørn Tysnes & Helle Høyer
Pages: 177-187
Published online: 23 Jan 2024
AbstractforGenetic overlap between ALS and other neurodegenerative or neuromuscular disorders | Full Text | References | PDF (988.7 KB) | EPUB | Supplemental
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Open Access
Article
Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion
Iris F. Van Wijk, Ruben P.A. Van Eijk, Loes Van Boxmeer, Henk-Jan Westeneng, Michael A. Van Es, Wouter Van Rheenen, Leonard H. Van Den Berg, Marinus J.C. Eijkemans & Jan H. Veldink
Pages: 188-196
Published online: 23 Jan 2024
AbstractforAssessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion | Full Text | References | PDF (1.8 MB) | EPUB | Supplemental
  • 3190 Views
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Open Access
Article
Genetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study
Zhiguang Li, Mei Tian, Hongning Jia, Xin Li, Qi Liu, Xiaomeng Zhou, Rui Li, Hui Dong & Yaling Liu
Pages: 197-206
Published online: 09 Sep 2023
AbstractforGenetic variation in targets of lipid-lowering drugs and amyotrophic lateral sclerosis risk: a Mendelian randomization study | Full Text | References | PDF (1.4 MB) | EPUB | Supplemental
  • 2014 Views
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Open Access

Brief Report

Brief Report
Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis
Silvia Peverelli, Alberto Brusati, Valeria Casiraghi, Marta Nice Sorce, Sabrina Invernizzi, Serena Santangelo, Claudia Morelli, Federico Verde, Vincenzo Silani, Nicola Ticozzi & Antonia Ratti
Pages: 207-210
Published online: 23 Jan 2024
AbstractforAnalysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis | Full Text | References | PDF (1.5 MB) | EPUB | Supplemental
  • 184 Views
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Brief Report
A brief report on juvenile amyotrophic lateral sclerosis cases in the United States National ALS Registry: 2010–2018
Jaime Raymond, Jasmine Berry, Edward J. Kasarskis, Theodore Larson, D. Kevin Horton & Paul Mehta
Pages: 211-213
Published online: 23 Jan 2024
AbstractforA brief report on juvenile amyotrophic lateral sclerosis cases in the United States National ALS Registry: 2010–2018 | Full Text | References | PDF (243.1 KB) | EPUB
  • 1099 Views
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Open Access

Letter to the Editor

Do we really need to calculate a minimal important difference for ALSFRS-R?: A letter in response to ‘Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R’ published in Vol. 24(3–4), pp. 311–316
Juan Francisco Vázquez-Costa
Pages: 214-215
Published online: 30 Aug 2023
CitationforDo we really need to calculate a minimal important difference for ALSFRS-R?: A letter in response to ‘Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R’ published in Vol. 24(3–4), pp. 311–316 | Full Text | References | PDF (221.5 KB) | EPUB
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Reply

Reply
The importance of understanding minimal important difference for ALSFRS-R: A reply to ‘Do we really need to calculate a minimal important difference for ALSFRS-R?’
Christina N. Fournier & Jonathan D. Glass
Pages: 216-217
Published online: 20 Sep 2023
CitationforThe importance of understanding minimal important difference for ALSFRS-R: A reply to ‘Do we really need to calculate a minimal important difference for ALSFRS-R?’ | Full Text | References | PDF (109.6 KB) | EPUB
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ALS Untangled

Case Report
ALSUntangled #71: Nuedexta
Yuyao Sun, Michael Benatar, Javier Mascías Cadavid, Dave Ennist, Paul Wicks, Kim Staats, Morgan Beauchamp, Sartaj Jhooty, Gary Pattee, Andrew Brown, Tulio Bertorini, Paul Barkhaus, Mark Bromberg, Greg Carter, Richard Bedlack & Xiaoyan Li
Pages: 218-222
Published online: 26 Jul 2023
AbstractforALSUntangled #71: Nuedexta | Full Text | References | PDF (352.3 KB) | EPUB
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Open Access

Correction

Correction
Correction
Page: 223
Published online: 20 Oct 2023
CitationforCorrection | Full Text | PDF (94.6 KB) | EPUB
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Free Access

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