4.6 Review

Iranian clinical practice guideline for amyotrophic lateral sclerosis

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Healthcare professionals' involvement in breaking bad news to newly diagnosed patients with motor neurodegenerative conditions: a qualitative study

Eleftherios Anestis et al.

Summary: The study found that non-medical healthcare professionals play an important role in delivering bad news to newly diagnosed patients with motor neurodegenerative conditions in the UK. They are involved in supporting patients, reiterating diagnostic information, and helping patients understand the impact of their condition, ultimately empowering patients to regain control over their health and lives.

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Embedded Psychiatric Services in a Multidisciplinary Amyotrophic Lateral Sclerosis Clinic: An Assessment of Patient Needs and Perceptions

Morgan Hardy et al.

Summary: The study involved embedding psychiatric services within a multidisciplinary clinic to evaluate and treat neuropsychiatric symptoms in ALS patients. Both patients and family members found meeting with a psychiatrist helpful and expressed a desire for continued access to psychiatric care in the future. This highlights the potential benefits of including psychiatrists in the care team for ALS patients.

JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES (2022)

Review Health Care Sciences & Services

Prevalence of Sialorrhea Among Amyotrophic Lateral Sclerosis Patients: A Systematic Review and Meta-Analysis

Yao Wang et al.

Summary: This study conducted a systematic review and meta-analysis of the prevalence of sialorrhea in ALS patients worldwide and found that sialorrhea is a relatively common symptom in ALS patients with a high prevalence. The study suggests that sialorrhea should be evaluated using more complex professional assessment scales to improve quality of life and early prognosis of the disease.

JOURNAL OF PAIN AND SYMPTOM MANAGEMENT (2022)

Article Otorhinolaryngology

A Novel Method for Triggering the Swallowing Reflex in Patients with Amyotrophic Lateral Sclerosis: the Ishizaki Press Method

Naohiko Ishizaki et al.

Summary: This study identified seven specific maxillofacial points triggering the swallowing reflex by finger pressure, with an efficacy of >= 70%. Stimulation at these points induced rapid swallowing reflex in less than 10 seconds, improving the management of dysphagia in patients with amyotrophic lateral sclerosis.

DYSPHAGIA (2022)

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A randomized placebo-controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis

Merit E. Cudkowicz et al.

Summary: This study evaluated the efficacy of mesenchymal stem cells induced to secrete neurotrophic factors in slowing the progression of ALS. The results suggest that this therapy may have a positive effect on patients with less severe disease, but did not reach statistical significance on the primary endpoint.

MUSCLE & NERVE (2022)

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Overcoming therapeutic nihilism. Breaking bad news of amyotrophic lateral sclerosis-a patient-centred perspective in rare diseases

Stanislaw Maksymowicz et al.

Summary: This article discusses the issue of delivering bad news to ALS patients in Poland and finds shortcomings in existing guidelines. Patients also have to deal with therapeutic nihilism and their end-of-life needs not being met. The study suggests using extended breaking bad news protocols and addressing the patients' treatment plan, hope, and psychological support.

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Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis

Simon Witzel et al.

Summary: This study found that long-term intravenous edaravone therapy for patients with ALS was feasible and well tolerated, but did not provide any disease-modifying benefit compared to standard therapy.

JAMA NEUROLOGY (2022)

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A systematic review of non-motor symptom evaluation in clinical trials for amyotrophic lateral sclerosis

Emily Beswick et al.

Summary: Non-motor symptoms like neuropsychiatric, cognitive and behavioral changes, pain, fatigue, and disordered sleep have not been consistently evaluated in ALS clinical trials. When evaluated, these symptoms were mainly assessed using instruments not adapted for individuals with ALS. Future trials should include assessments of non-motor symptoms to explore potential therapeutic benefits.

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Effect of sodium phenylbutyrate/taurursodiol on tracheostomy/ventilation-free survival and hospitalisation in amyotrophic lateral sclerosis: long-term results from the CENTAUR trial

Sabrina Paganoni et al.

Summary: Early use of PB/TURSO can prolong tracheostomy/ventilation-free survival in ALS patients and delay the first hospitalization.

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Higher incidence of cervical spinal cord compression in amyotrophic lateral sclerosis: a single-institute cohort study

Kosuke Matsuzono et al.

Summary: Among ALS, PD, and CIDP patients, the proportion of cervical spondylotic myelopathy (CSM) was highest in ALS patients, with cervical cord conditions significantly more crowded in ALS patients compared to others.

NEUROLOGICAL SCIENCES (2022)

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Awaji criteria for the diagnosis of amyotrophic lateral sclerosis in Hanoi, Vietnam

Tuan Van Nguyen et al.

Summary: The study evaluated the role of electromyography and Awaji criteria for the early diagnosis of ALS, finding that Awaji criteria have higher sensitivity for early diagnosis of ALS.

NEUROLOGICAL SCIENCES (2022)

Article Clinical Neurology

Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis

Stephen A. Goutman et al.

Summary: The diagnosis of amyotrophic lateral sclerosis can be challenging due to its diverse clinical presentation and overlap with other neurological disorders. However, an evolving understanding of the disease and the use of new diagnostic criteria can expedite diagnosis. Additionally, advancements in prognosis and monitoring tools are also being developed.

LANCET NEUROLOGY (2022)

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Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Timothy M. Miller et al.

Summary: This study examined the use of tofersen in patients with SOD1 ALS and found that it can reduce protein concentrations in the cerebrospinal fluid and plasma, but does not improve clinical outcomes and is associated with adverse events. Further investigation is needed to evaluate the effects of early initiation of tofersen.

NEW ENGLAND JOURNAL OF MEDICINE (2022)

Article Medicine, General & Internal

Intravenous edaravone treatment in ALS and survival: An exploratory, retrospective, administrative claims analysis

Benjamin Rix Brooks et al.

Summary: This study evaluated the overall survival of US patients with amyotrophic lateral sclerosis (ALS) treated with intravenous (IV) edaravone compared to those not treated with IV edaravone in a real-world setting. The findings showed that IV edaravone treatment was associated with prolonged overall survival in a large cohort of predominantly riluzole-treated ALS patients in the US.

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Effects of prolonged interruption of rehabilitation routines in amyotrophic lateral sclerosis patients

Filipe Goncalves et al.

Summary: The study indicates that prolonged interruption of rehabilitation during the lockdown may accelerate the functional decline in ALS patients' motor skills, increase fatigue, and negatively impact quality of life, especially in specific domains.

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A case of MuSK antibody-positive myasthenia gravis patient mimicking amyotrophic lateral sclerosis with four videofluoroscopic examinations

Takashi Kasahara et al.

Summary: Patients with MuSK antibody-positive MG may present with bulbar symptoms that can be confused with bulbar-onset ALS. Videofluoroscopic evaluations are helpful in assessing the clinical course of such patients.

ORAL SCIENCE INTERNATIONAL (2022)

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Amyotrophic lateral sclerosis with coexisting cancer: a single-center study

Onur Akan et al.

Summary: This study found that 11.6% of ALS patients were associated with cancer. ALS patients with cancer have lower survival rates, and in most cases, cancer is diagnosed before ALS.

ACTA NEUROLOGICA BELGICA (2021)

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A systematic review of neuropsychiatric and cognitive assessments used in clinical trials for amyotrophic lateral sclerosis

Emily Beswick et al.

Summary: Up to 50% of ALS patients experience cognitive dysfunction, with high rates of depression and anxiety reported. However, past 25 years of clinical trials have largely neglected the importance of neuropsychiatric symptoms and cognitive impairment in ALS. Evaluation of these non-motor features is crucial for understanding the impact of candidate drugs on all symptoms of ALS.

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Long-term survival of participants in the CENTAUR trial of sodium phenylbutyrate-taurursodiol in amyotrophic lateral sclerosis

Sabrina Paganoni et al.

Summary: In the CENTAUR trial for ALS, orally administered PB-TURSO significantly slowed functional decline and a long-term survival analysis showed that participants receiving PB-TURSO treatment had a median survival 6.5 months longer than those on placebo. These results suggest that PB-TURSO has both functional and survival benefits in ALS.

MUSCLE & NERVE (2021)

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Which are the factors influencing NIV adaptation and tolerance in ALS patients?

Massimo Russo et al.

Summary: ALS patients undergoing NIV treatment are affected by respiratory status, behavioral and cognitive impairments which are important factors influencing the adaptation time. Excessive salivation and neurobehavioral disorders are negative predictors of NIV adaptation.

NEUROLOGICAL SCIENCES (2021)

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FUS mutation is probably the most common pathogenic gene for JALS, especially sporadic JALS

L. Chen

Summary: In recent years, there has been an increase in reported cases of Juvenile amyotrophic lateral sclerosis (JALS) with Fused in sarcoma (FUS) gene mutations, particularly in sporadic cases. The majority of FUS mutations in JALS occur in the nuclear localization signal (NLS) region, highlighting a potential new focus for diagnosis and treatment research.

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Systematic Review of Therapeutic Physical Exercise in Patients with Amyotrophic Lateral Sclerosis over Time

Laura Ortega-Hombrados et al.

Summary: The study found that therapeutic physical exercise can significantly improve the functional abilities of patients with amyotrophic lateral sclerosis (ALS) and help slow down the degeneration of muscles. Participants showed significant improvements in subjective perception and functional capacities in the short, medium and long terms.

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Diagnostic Utility of Gold Coast Criteria in Amyotrophic Lateral Sclerosis

Andrew Hannaford et al.

Summary: The study found that the Gold Coast criteria had high sensitivity in the diagnosis of ALS, with consistent accuracy across different subgroups based on disease origin, duration, and functional impairments. In atypical ALS phenotypes, the Gold Coast criteria showed higher sensitivity and specificity.

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A further Rasch analysis of the Fear-Avoidance Beliefs Questionnaire in adults with chronic low back pain suggests the revision of its rating scale

Franco Franchignoni et al.

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EUROPEAN JOURNAL OF PHYSICAL AND REHABILITATION MEDICINE (2021)

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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen et al.

Summary: A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) identified 15 risk loci with distinct genetic architectures and neuron-specific biology. The study emphasized the urgent need for disease-modifying therapies for ALS. High cholesterol levels were suggested to have a causal role in the onset of ALS, among other environmental and lifestyle risk factors.

NATURE GENETICS (2021)

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Assessment of feasibility and utility of universal referral to specialty palliative care in a multidisciplinary amyotrophic lateral sclerosis clinic: A cohort study

Julia Hafer et al.

Summary: This study explores the feasibility and utility of embedding a palliative care physician in an ALS clinic. Within the study period, 75% of patients with ALS were seen by the palliative care physician, with discussions on advance care planning and goals of care. The most common topics discussed were code status and meaning/values.

MUSCLE & NERVE (2021)

Article Clinical Neurology

Persian adaptation of Edinburgh Cognitive and Behavioural Screen (ECAS)

Helia Mojtabavi et al.

Summary: The Persian version of ECAS shows high internal consistency and strong correlation with MoCA and ALS-FRS, effectively distinguishing between patients and healthy individuals.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2021)

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The Safety and Efficacy of Stem Cell Therapy as an Emerging Therapy for ALS: A Systematic Review of Controlled Clinical Trials

Ammar Aljabri et al.

Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with no cure currently available. Stem cell transplantation shows potential in treating ALS, but more properly conducted clinical trials are needed to evaluate its safety and efficacy.

FRONTIERS IN NEUROLOGY (2021)

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Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum

Anna Bartoletti-Stella et al.

Summary: Research suggests that genetic abnormalities in major ALS genes primarily affect patients with a family history of pure ALS, while rare ALS/FTD gene variants are more common in patients with a family history of other neurodegenerative diseases. These two genetic components may help guide genetic screening protocols.

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Francesc Graus et al.

Summary: The updated diagnostic criteria for PNS proposed by a panel of experts involve the classification of high-risk, intermediate-risk, and low-risk phenotypes, as well as the introduction of a new classification of evidence for PNS.

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Looking backward to move forward: a meta-analysis of stem cell therapy in amyotrophic lateral sclerosis

Cynthia Morata-Tarifa et al.

Summary: A meta-analysis was conducted to evaluate the outcomes of stem cell therapy trials for ALS, indicating a transient positive effect on clinical progression with mesenchymal stem cell intrathecal injection, but a worsening of respiratory function. Further research is needed to determine optimal cell products and administration routes for improved outcomes.

NPJ REGENERATIVE MEDICINE (2021)

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Behavioural changes predict poorer survival in amyotrophic lateral sclerosis

Chilan Nguyen et al.

Summary: The presence of behavioral and cognitive impairments in ALS patients is associated with poor survival outcomes. The MiND-B and ACE inventories are simple and efficient clinical tools that can aid in the prognostication of this patient population in multidisciplinary ALS clinics.

BRAIN AND COGNITION (2021)

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Gold Coast diagnostic criteria increase sensitivity in amyotrophic lateral sclerosis

Kirsten Pugdahl et al.

Summary: The study found that the "Gold Coast" diagnostic criteria for ALS had higher sensitivity compared to previous criteria, primarily due to considering PMA as a form of ALS. This simpler criteria can be used in clinical practice and may be included in clinical trials.

CLINICAL NEUROPHYSIOLOGY (2021)

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A paraneoplastic syndrome misdiagnosed as ALS: What are the red flags? A case report and review of the literature

Assaf Tolkovsky et al.

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Gold Coast diagnostic criteria: Implications for ALS diagnosis and clinical trial enrollment

Steve Vucic et al.

Summary: The diagnostic criteria for ALS have been simplified with the Gold Coast criteria, which have increased sensitivity, maintained accuracy, and differentiated atypical phenotypes. It is proposed that these criteria should be incorporated into routine practice and clinical trial settings.

MUSCLE & NERVE (2021)

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Lung volume recruitment improves volitional airway clearance in amyotrophic lateral sclerosis

Stuart Cleary et al.

Summary: This study evaluated the effects of lung volume recruitment treatment (LVR) on volitional airway clearance and protection behaviors in people with ALS. LVR treatment significantly increased maximum expiratory rates during all tested behaviors, with effects lasting up to 30 minutes post-treatment. The findings have implications for patient care, offering control over ALS symptoms and improved respiratory care in low-resource settings.

MUSCLE & NERVE (2021)

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The Gold Coast criteria increases the diagnostic sensitivity for amyotrophic lateral sclerosis in a Chinese population

Dongchao Shen et al.

Summary: The study showed that the Gold Coast criteria had greater diagnostic sensitivity for ALS than the rEEC and Awaji criteria in a Chinese population. The sensitivity remained robust across subgroups, especially in limb-onset ALS patients, indicating its potential for use in clinical practice and future therapeutic trials.

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Sensitivity of Awaji Criteria and Revised El Escorial Criteria in the Diagnosis of Amyotrophic Lateral Sclerosis (ALS) at First Visit in a Tunisian Cohort

Bademain Jean Fabrice Ido et al.

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Decision-making for tracheostomy in amyotrophic lateral sclerosis (ALS): a retrospective study

Piero Ceriana et al.

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Ability of pulmonary function decline to predict death in amyotrophic lateral sclerosis patients

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