Mapping ALSFRS-R and ALSUI to EQ-5D in Patients with Motor Neuron Disease

Background

The Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) is the preferred measure of health outcome in clinical trials in motor neuron disease (MND). It, however, does not provide a preference-based health utility score required for estimating quality-adjusted life-years in economic evaluations for health technology assessments.

Vitamin D deficiency and its supplementation in patients with amyotrophic lateral sclerosis

We studied 25-hydroxyvitamin D (vitamin D) levels in patients with amyotrophic lateral sclerosis (ALS) and the effect of vitamin D supplementation. Vitamin D levels were checked in 37 consecutive patients with ALS. Demographic data, vitamin D supplementation, change in Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) score, and side effects from vitamin D were noted over a 9 month follow-up period. ALSFRS-R scores were compared between patients who took vitamin D and those who did not. The median age was 55 years and median time since symptom onset was 61 months. The mean vitamin D level was 22.3 ng/mL (normal range, 30–80 ng/mL). Eighty-one percent of patients had a vitamin D level lower than 30 ng/mL and 43% had a vitamin D level lower than 20 ng/mL. Twenty patients took 2000 international units of vitamin D daily. After adjustment for age and baseline vitamin D levels in a linear regression model, the ALSFRS-R score decline was smaller in patients taking vitamin D at 9 months (p = 0.02) but was not significantly different at 3 or 6 months. Median vitamin D levels rose from 18.5 to 31.0 ng/mL at 6 months in the group taking vitamin D. No side effects secondary to vitamin D supplementation were reported. Vitamin D supplementation at 2000 international units daily was safe over a period of 9 months and may have a beneficial effect on ALSFRS-R scores. Further studies are warranted to determine whether there is a benefit in vitamin D supplementation for all ALS patients.     

The terminal latency of the phrenic nerve correlates with respiratory symptoms in amyotrophic lateral sclerosis

Objective

The aim of the study was to investigate the electrophysiological parameters in phrenic nerve conduction studies (NCS) that sensitively reflect latent respiratory insufficiency present in amyotrophic lateral sclerosis (ALS).

Amyotrophic Lateral Sclerosis: An Update for 2018

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting motor neurons and other neuronal cells, leading to severe disability and eventually death from ventilatory failure. It has a prevalence of 5 in 100,000, with an incidence of 1.7 per 100,000, reflecting short average survival. The pathogenesis is incompletely understood, but defects of RNA processing and protein clearance may be fundamental. Repeat expansions in the chromosome 9 open reading frame 72 gene (C9orf72) are the most common known genetic cause of ALS and are seen in approximately 40% of patients with a family history and approximately 10% of those without. No environmental risk factors are proved to be causative, but many have been proposed, including military service. The diagnosis of ALS rests on a history of painless progressive weakness coupled with examination findings of upper and lower motor dysfunction. No diagnostic test is yet available, but electromyography and genetic tests can support the diagnosis. Care for patients is best provided by a multidisciplinary team, and most interventions are directed at managing symptoms. Two medications with modest benefits have Food and Drug Administration approval for the treatment of ALS: riluzole, a glutamate receptor antagonist, and, new in 2017, edaravone, a free radical scavenger. Many other encouraging treatment strategies are being explored in clinical trials for ALS; herein we review stem cell and antisense oligonucleotide gene therapies.     

Fasciculation intensity and disease progression in amyotrophic lateral sclerosis

Objective

To investigate the association between the frequency and intensity of fasciculations with clinical measures of disease progression in amyotrophic lateral sclerosis (ALS).

Motor Unit Number Index (MUNIX) detects motor neuron loss in pre-symptomatic muscles in Amyotrophic Lateral Sclerosis

Objective

Motor Unit Number Index (MUNIX) is a quantitative neurophysiological measure that provides an index of the number of lower motor neurons supplying a muscle. It reflects the loss of motor neurons in patients with Amyotrophic Lateral Sclerosis (ALS). However, it is unclear whether MUNIX also detects motor unit loss in strong, non-wasted muscles.

Attenuated error-related potentials in amyotrophic lateral sclerosis with executive dysfunctions

Objective

Executive dysfunctions affect up to 50% of the patients with amyotrophic lateral sclerosis (ALS). Executive dysfunctions have been identified as negative prognostic factor and can affect quality of life in patients and their caregivers. Assessment of executive dysfunction may be impeded by the patients’ motor impairments. Event-related potentials (ERP) have been proposed as a tool to overcome these assessment difficulties. The error(-related) negativity (N_e/ERN) is an ERP which can be recorded with minimal motor requirements for the patient.

Measuring function in advanced ALS: validation of ALSFRS-EX extension items

Background:  With the aid of assistive technology, some patients with amyotrophic lateral sclerosis (ALS) are able to live for several years past the lowest measurable level of function on the Amyotrophic Lateral Sclerosis Functional Rating Scale – Revised (ALSFRS-R), a widely used end-point in ALS assessment. There is a research need to monitor patient function at the end of life, particularly in the face of severe impairment or 'locked in syndrome'.
Methods:  We used an online community for people with ALS (PALS) (PatientsLikeMe) to construct and pilot a number of new items to add to the ALSFRS-R scale to improve its sensitivity at lower levels of physical function in patients with advanced ALS.
Results:  Ten new scale items were generated by a survey of PALS with advanced disease. These were added to the existing ALSFRS-R and data was received from 326 PALS as baseline with 271 PALS (83%) completing a 1-week test-retest and 218 PALS (67%), completing a 3-month retest.
Conclusions:  Three new items were selected which conformed to the existing factor structure of the ALFRS-R. These relate to the ability to use fingers to manipulate devices, ability to show emotional expression in the face, and ability to get around inside the home. Real-world validation is the next step to assess the utility of the ALFRS-EX.