Amyotrophic lateral sclerosis (ALS) is the most common neurodegenerative disease of the
motor system. Bulbar symptoms such as dysphagia and dysarthria are frequent features of …

Abstract A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is
reported in a family with amyotrophic lateral sclerosis (ALS) and co‐occurrence of …

In ALS, advanced magnetic resonance imaging (MRI) techniques are increasingly used to
investigate the underlying pathology. In this study, the technique of voxel‐based …

Background Abnormal neuronal inclusions composed of the transactivation response DNA-
binding protein 43 (TDP-43) are characteristic neuropathologic lesions in sporadic and …

Abstract Background Becker-Kiener muscular dystrophy (BMD) represents an X-linked
genetic disease associated with myocardial involvement potentially resulting in dilated …

Different motor neuron disorders (MNDs) are mainly defined by the clinical presentation
based on the predominance of upper or lower motor neuron impairment and the course of …

The free radical theory of aging postulates that the production of mitochondrial reactive
oxygen species is the major determinant of aging and lifespan. Its role in aging of the …

Objectives Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed
that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal …

We illustrate a white caucasian patient with a severe sensorimotor neuropathy due to
vitamin B6 hypervitaminosis. The patient used the pendulum to calculate his daily metabolic …

Background 153 mutations in the Cu/Zn superoxide dismutase (SOD1) gene have been
claimed to be associated with amyotrophic lateral sclerosis (ALS) in familial and sporadic …