Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Volume 23, Issue 1-2 (2022)

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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Volume 23, Issue 1-2 (2022)

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Editorial

The neuroradiology of upper motor neuron degeneration: PLS, HSP, ALS
Stacey Li Hi Shing & Peter Bede
Pages: 1-3
Published online: 13 Dec 2021
First Page PreviewforThe neuroradiology of upper motor neuron degeneration: PLS, HSP, ALS | Full Text | References | PDF (115.7 KB) | EPUB
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Reviews

Review Article
Epidemiological and genetic features of amyotrophic lateral sclerosis in Latin America and the Caribbean: a systematic review
Daniells Erazo, Jaime Luna, Pierre-Marie Preux, Farid Boumediene & Philippe Couratier
Pages: 4-15
Published online: 19 Apr 2021
AbstractforEpidemiological and genetic features of amyotrophic lateral sclerosis in Latin America and the Caribbean: a systematic review | Full Text | References | PDF (1.3 MB) | EPUB | Supplemental
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Article
The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients
Alzira Alves De Siqueira Carvalho, Marco Antônio Troccoli Chieia, Igor Braga Farias, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira De Rezende Pinto & Paulo Victor Sgobbi De Souza
Pages: 16-24
Published online: 05 Nov 2021
AbstractforThe expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients | Full Text | References | PDF (542 KB) | EPUB | Supplemental
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Clinical

Article
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
Francisco J. Navas-Sánchez, Daniel Martín De Blas, Alberto Fernández-Pena, Yasser Alemán-Gómez, Agustín Lage-Castellanos, Luis Marcos-Vidal, Juan A. Guzmán-De-Villoria, Irene Catalina, Laura Lillo, José L. Muñoz-Blanco, Andrés Ordoñez -Ugalde, Beatriz Quintáns, María-Jesús Sobrido, Susanna Carmona, Francisco Grandas & Manuel Desco
Pages: 25-34
Published online: 16 Aug 2021
AbstractforCorticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4) | Full Text | References | PDF (833.5 KB) | EPUB | Supplemental
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Article
Tracheostomy ventilation in motor neurone disease: a snapshot of UK practice
Jonathan Palmer, Ben Messer & Michelle Ramsay
Pages: 35-41
Published online: 08 May 2021
AbstractforTracheostomy ventilation in motor neurone disease: a snapshot of UK practice | Full Text | References | PDF (361.8 KB) | EPUB
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Article
Low plasma hyaluronan is associated with faster functional decline in patients with amyotrophic lateral sclerosis
Cory J. Holdom, Shyuan T. Ngo, Pamela A. McCombe, Robert D. Henderson & Frederik J. Steyn
Pages: 42-48
Published online: 27 Sep 2021
AbstractforLow plasma hyaluronan is associated with faster functional decline in patients with amyotrophic lateral sclerosis | Full Text | References | PDF (639.9 KB) | EPUB
  • 136 Views
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Article
Evidence for generalizability of edaravone efficacy using a novel machine learning risk-based subgroup analysis tool
Benjamin Rix Brooks, Erik P. Pioro, Danielle Beaulieu, Albert A. Taylor, Mark Schactman, Mike Keymer, Wendy Agnese, Johnna Perdrizet, Stephen Apple & David L. Ennist
Pages: 49-57
Published online: 10 Jul 2021
AbstractforEvidence for generalizability of edaravone efficacy using a novel machine learning risk-based subgroup analysis tool | Full Text | References | PDF (900.6 KB) | EPUB
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Open Access
Article
Cardiac troponin T is elevated and increases longitudinally in ALS patients
Ulf Kläppe, Sanharib Chamoun, Qing Shen, Anja Finn, Björn Evertsson, Henrik Zetterberg, Kaj Blennow, Rayomand Press, Kristin Samuelsson, Anna Månberg, Fang Fang & Caroline Ingre
Pages: 58-65
Published online: 21 Jun 2021
AbstractforCardiac troponin T is elevated and increases longitudinally in ALS patients | Full Text | References | PDF (855.6 KB) | EPUB | Supplemental
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Open Access
Medical therapies for amyotrophic lateral sclerosis-related respiratory decline: an appraisal of needs, opportunities and obstacles
Carolyn Young, Susana Pinto, Julian Grosskreutz, Orla Hardiman, Lora L. Clawson, Merit E. Cudkowicz & Jinsy A. Andrews
Pages: 66-75
Published online: 14 Aug 2021
AbstractforMedical therapies for amyotrophic lateral sclerosis-related respiratory decline: an appraisal of needs, opportunities and obstacles | Full Text | References | PDF (753.5 KB) | EPUB
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Article
The patient's perspective of remote respiratory assessments during the COVID-19 pandemic
Rachel Tattersall, Simon Carty, Dara Meldrum, Orla Hardiman & Deirdre Murray
Pages: 76-80
Published online: 07 Jun 2021
AbstractforThe patient's perspective of remote respiratory assessments during the COVID-19 pandemic | Full Text | References | PDF (492.6 KB) | EPUB | Supplemental
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Cognition

Article
Italian adaptation of the Beaumont Behavioral Inventory (BBI): psychometric properties and clinical usability
Barbara Iazzolino, Debora Pain, Peotta Laura, Edoardo N. Aiello, Marcello Gallucci, Alice Radici, Francesca Palumbo, Antonio Canosa, Cristina Moglia, Andrea Calvo, Gabriele Mora & Adriano Chiò
Pages: 81-86
Published online: 19 Jul 2021
AbstractforItalian adaptation of the Beaumont Behavioral Inventory (BBI): psychometric properties and clinical usability | Full Text | References | PDF (306.3 KB) | EPUB | Supplemental
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Article
Hyper-religiosity and visual hallucinations in a patient with frontotemporal dementia carrying a double variant in GRN gene
Maurizio Morelli, Andrea Quattrone, Gennarina Arabia, Ida Manna, Antonio Gambardella & Aldo Quattrone
Pages: 87-90
Published online: 26 Aug 2021
AbstractforHyper-religiosity and visual hallucinations in a patient with frontotemporal dementia carrying a double variant in GRN gene | Full Text | References | PDF (1,008.6 KB) | EPUB
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Pathogenesis

Article
Gut microbiome differences between amyotrophic lateral sclerosis patients and spouse controls
Vicki S. Hertzberg, Harinder Singh, Christina N. Fournier, Ahmed Moustafa, Meraida Polak, Claire A. Kuelbs, Manolito G. Torralba, Malú G. Tansey, Karen E. Nelson & Jonathan D. Glass
Pages: 91-99
Published online: 05 Apr 2021
AbstractforGut microbiome differences between amyotrophic lateral sclerosis patients and spouse controls | Full Text | References | PDF (955.3 KB) | EPUB | Supplemental
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Open Access
Article
Human endogenous retrovirus K (HERV-K) env in neuronal extracellular vesicles: a new biomarker of motor neuron disease
Yuan Li, Yong Chen, Nan Zhang & Dongsheng Fan
Pages: 100-107
Published online: 20 Jun 2021
AbstractforHuman endogenous retrovirus K (HERV-K) env in neuronal extracellular vesicles: a new biomarker of motor neuron disease | Full Text | References | PDF (543.2 KB) | EPUB | Supplemental
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Open Access

Trials

Article
Tailoring patients’ enrollment in ALS clinical trials: the effect of disease duration and vital capacity cutoffs
Maria Claudia Torrieri, Umberto Manera, Gabriele Mora, Antonio Canosa, Rosario Vasta, Giuseppe Fuda, Paolina Salamone, Maurizio Grassano, Paolo Cugnasco, Nicola Launaro, Fabiola De Marchi, Alessio Mattei, Letizia Mazzini, Cristina Moglia, Andrea Calvo & Adriano Chiò
Pages: 108-115
Published online: 06 Aug 2021
AbstractforTailoring patients’ enrollment in ALS clinical trials: the effect of disease duration and vital capacity cutoffs | Full Text | References | PDF (916.5 KB) | EPUB | Supplemental
  • 195 Views
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Article
An online non-meditative mindfulness intervention for people with ALS and their caregivers: a randomized controlled trial
Francesco Pagnini, Deborah Phillips, Anne Haulman, Matthew Bankert, Zachary Simmons & Ellen Langer
Pages: 116-127
Published online: 22 May 2021
AbstractforAn online non-meditative mindfulness intervention for people with ALS and their caregivers: a randomized controlled trial | Full Text | References | PDF (291.4 KB) | EPUB
  • 852 Views
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Genetics

Article
A novel splice site FUS mutation in a familial ALS case: effects on protein expression
Antonio Canosa, Annarosa Lomartire, Giovanni De Marco, Maurizio Grassano, Maura Brunetti, Umberto Manera, Rosario Vasta, Paolina Salamone, Giuseppe Fuda, Luca Sbaiz, Salvatore Gallone, Cristina Moglia, Andrea Calvo & Adriano Chiò
Pages: 128-136
Published online: 21 Apr 2021
AbstractforA novel splice site FUS mutation in a familial ALS case: effects on protein expression | Full Text | References | PDF (1.6 MB) | EPUB | Supplemental
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Short Reports

Sandhoff disease in the elderly: a case study
Leidy García Morales, Reinaldo Gaspar Mustelier Bécquer, Laura Pérez Joglar & Tatiana Zaldívar Vaillant
Pages: 137-138
Published online: 02 Mar 2021
AbstractforSandhoff disease in the elderly: a case study | Full Text | References | PDF (424.7 KB) | EPUB
  • 270 Views
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Early juvenile reading epilepsy and later frontotemporal dementia (FTD): expanding the clinical phenotype of C9ORF72 mutation?
Marta Melis, Giovanni Defazio, Elisa Casaglia, Valerio Melas & Gianluca Floris
Pages: 139-142
Published online: 05 Apr 2021
AbstractforEarly juvenile reading epilepsy and later frontotemporal dementia (FTD): expanding the clinical phenotype of C9ORF72 mutation? | Full Text | References | PDF (887 KB) | EPUB | Supplemental
  • 200 Views
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Slow progression of amyotrophic lateral sclerosis in a Chinese patient carrying SOD1 p.S135T mutation
Hanhui Fu, Kang Zhang, Xunzhe Yang, Libo Li & Liying Cui
Pages: 143-145
Published online: 16 Apr 2021
AbstractforSlow progression of amyotrophic lateral sclerosis in a Chinese patient carrying SOD1 p.S135T mutation | Full Text | References | PDF (514 KB) | EPUB
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Amyotrophic lateral sclerosis caregiver burden and patients’ quality of life during COVID-19 pandemic
Silvia Giusiano, Laura Peotta, Barbara Iazzolino, Enza Mastro, Martina Arcari, Francesca Palumbo, Maria Claudia Torrieri, Alessandro Bombaci, Maurizio Grassano, Sara Cabras, Francesca Di Pede, Filippo DeMattei, Enrico Matteoni, Luca Solero, Margherita Daviddi, Paolina Salamone, Giuseppe Fuda, Umberto Manera, Antonio Canosa, Adriano Chiò, Andrea Calvo, Cristina Moglia & Rosario Vasta
Pages: 146-148
Published online: 16 Apr 2021
AbstractforAmyotrophic lateral sclerosis caregiver burden and patients’ quality of life during COVID-19 pandemic | Full Text | References | PDF (384.8 KB) | EPUB | Supplemental
  • 669 Views
  • 9 CrossRef citations
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An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report
Ji He, Weiyi Yu, Xiaoxuan Liu & Dongsheng Fan
Pages: 149-153
Published online: 07 Oct 2021
AbstractforAn identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report | Full Text | References | PDF (355.5 KB) | EPUB
  • 271 Views
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Letter

Letter
Inosine supplements only reach the CNS in molybdenum deficient humans and may cause astrocyte degeneration and bulbar–respiratory disease
Bourke Christopher A.
Pages: 154-156
Published online: 10 Jul 2021
First Page PreviewforInosine supplements only reach the CNS in molybdenum deficient humans and may cause astrocyte degeneration and bulbar–respiratory disease | Full Text | References | PDF (168.2 KB) | EPUB
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ALS Untangled

Article
ALSUntangled #61: melatonin
THE ALSUNTANGLED GROUP
Pages: 157-160
Published online: 18 May 2021
AbstractforALSUntangled #61: melatonin | Full Text | References | PDF (127.3 KB) | EPUB
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