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The favorable response to treatment with IV immunoglobulins and the presence of IgM antibodies to the glycolipid GM1 are indications that inflammation underlies multifocal motor neuropathy (MMN) pathogenesis. We investigated the association of MMN with human leukocyte antigen (HLA) class I and II antigens.

In the Netherlands, the proportion of patients with amyotrophic lateral sclerosis (ALS) who choose the option of euthanasia or physician-assisted suicide (PAS) is relatively high (20%). The objective of this study was to determine which factors influence end-of-life practices in ALS and whether rates are changing over time.

To investigate the frequency of autosomal recessive parapleginmutations in patients with sporadic adult-onset upper motor neuron (UMN) syndromes.

To investigate the association between cigarette smoking, level of education, occupation, and the occurrence of sporadic amyotrophic lateral sclerosis (ALS).

To examine the effect of multidisciplinary ALS care on the quality-of-life (QoL) in patients with ALS and their caregivers.

ALS is believed to be multifactorial in origin with modifying genes affecting its clinical expression. Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive disorder of motor neurons, caused by mutations of the survival motor neuron (SMN) gene. The SMNgene exists in two highly homologous variants: SMN1, the causative gene responsible for the production of the majority of functional SMN protein, and SMN2, responsible for the production of less protein but sufficient for modifying the SMA phenotype.

To assess whether lifetime physical activity during work and leisure time is associated with an increased risk of developing ALS and to determine the association between physical activity and duration or age at onset of disease.

Sequence alterations in the promoter region of the vascular endothelial growth factor (VEGF) gene have been implicated in increasing the risk of developing ALS. VEGF promoter haplotypes were determined in 373 patients with sporadic ALS and 615 matched healthy controls in The Netherlands. No significant association between the previously reported at-risk haplotypes and ALS was found. Pooling our results with the previously studied population still showed a significant association with the AAG haplotype.

Riluzole exerts a dose-dependent effect on survival of patients with ALS and, although serum levels show a high interindividual variability, is usually prescribed in a fixed dose. In this study, riluzole serum levels and area under the curve per kilogram of body weight (AUC/kg) of 169 patients with ALS showed a high interindividual variability. Patients with high serum levels and AUC/kg more often had diarrhea but less often had fasciculations and muscle stiffness. It may therefore be advantageous to raise the riluzole dose in patients with low riluzole serum concentrations without the risk of serious side effects.