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Diagnostic utility of neurofilament markers for MND is limited in restricted disease phenotype and for differentiation from compressive myeloradiculopathies
Misdiagnosis is frequent in early motor neuron disease (MND), typically compressive radiculopathy, or in patients with restricted MND phenotype. In...
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Statistical analysis plan for the motor neuron disease systematic multi-arm adaptive randomised trial (MND-SMART)
BackgroundMND-SMART is a platform, multi-arm, multi-stage, multi-centre, randomised controlled trial recruiting people with motor neuron disease....
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AI-assisted automatic MRI-based tongue volume evaluation in motor neuron disease (MND)
PurposeMotor neuron disease (MND) causes damage to the upper and lower motor neurons including the motor cranial nerves, the latter resulting in...
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Heterogeneity of behavioural and language deficits in FTD–MND
ObjectiveTo comprehensively examine the clinical presentation of patients diagnosed with frontotemporal dementia–motor neuron disease (FTD–MND)...
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Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8mnd mice
BackgroundCLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor...
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Diagnostic value of neurofilaments in differentiating motor neuron disease from multifocal motor neuropathy
ObjectiveTo evaluate the performance of serum neurofilament light chain (NfL) and cerebrospinal fluid (CSF) phosphorylated neurofilament heavy chain...
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Factors impacting trial participation in people with motor neuron disease
Motor neuron disease (MND) is a rapidly progressive neurodegenerative disorder with limited treatment options. Historically, neurological trials have...
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Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease
Biallelic pathogenic repeat expansions in RFC1 were recently identified as molecular origin of cerebellar ataxia, neuropathy, vestibular areflexia...
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Increased incidence of motor neuron disease in Sweden: a population-based study during 2002–2021
BackgroundMotor neuron diseases (MND), with amyotrophic lateral sclerosis constituting most cases, are rare conditions of unknown etiology. There...
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End of life decision making when home mechanical ventilation is used to sustain breathing in Motor Neurone Disease: patient and family perspectives
BackgroundMotor Neurone Disease (MND) leads to muscle weakening, affecting movement, speech, and breathing. Home mechanical ventilation, particularly...
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Quality of life, cognitive and behavioural impairment in people with motor neuron disease: a systematic review
PurposeMotor neuron disease (MND) is a neurodegenerative disease, progressively impacting function and self-perceived quality of life (QoL). Up to...
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Psychosocial interventions for people with amyotrophic lateral sclerosis and motor neuron disease and their caregivers: a sco** review
BackgroundAs amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) is a fatal progressive neurodegenerative disorder, patients experience...
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Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland
BackgroundUsing the Clinical Audit Research and Evaluation of Motor Neuron Disease (CARE-MND) database and the Scottish Regenerative Neurology Tissue...
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The relationship between dehydration and etiologic subtypes of major neurocognitive disorder in older patients
PurposeStudies investigating associations between etiologic subtypes of major neurocognitive disorder (MND) and dehydration frequency are lacking....
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A systematic review and narrative analysis of digital speech biomarkers in Motor Neuron Disease
Motor Neuron Disease (MND) is a progressive and largely fatal neurodegeneritve disorder with a lifetime risk of approximately 1 in 300. At diagnosis,...
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Using an expanded algorithm to estimate prevalence of amyotrophic lateral sclerosis in U.S. and UK
BackgroundThere is an increasing need to better understand the burden of amyotrophic lateral sclerosis (ALS) using real-world data (RWD). However,...
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Exploratory study to evaluate the acceptability of a wearable accelerometer to assess motor progression in motor neuron disease
Motor neuron disease (MND) is a rapidly progressive condition traditionally assessed using a questionnaire to evaluate physical function, the revised...
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Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland
BackgroundWe investigated the phenotypes and genotypes of a cohort of ‘long-surviving’ individuals with motor neuron disease (MND) to identify...
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Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease
BackgroundActigraphy has been proposed as a measure for tracking functional decline and disease progression in patients with Motor Neuron Disease...
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A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol
BackgroundMotor neuron disease (MND) is a rapidly progressive, fatal neurodegenerative disease that predominantly affects motor neurons from the...
