Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease for which effective therapeutic interventions and an understanding of underlying disease mechanism are lacking. A variety of biochemical pathways are believed to contribute to the pathophysiology of ALS that are common to both sporadic and familial forms of the disease. Evidence from both human and animal studies indicates tha...

Spinal muscular atrophy (SMA) is a lethal human disease characterized by motor neuron dysfunction and muscle deterioration due to depletion of the ubiquitous survival motor neuron (SMN) protein. Drosophila SMN mutants have reduced muscle size and defective locomotion, motor rhythm, and motor neuron neurotransmission. Unexpectedly, restoration of SMN in either muscles or motor neurons did not al...

BACKGROUND AND PURPOSE Diagnostic confidence in motor neuron disease may be improved by the use of advanced MR imaging techniques. Our aim was to assess the accuracy (sensitivity/specificity) and agreement of combined (1)H-MR spectroscopy (proton MR spectroscopy) and diffusion tensor imaging (DTI) at 3T in patients with suspected motor neuron disease regarding detection of upper motor neuron (U...

Conduction in the central motor pathways of the brain and spinal cord was studied in 12 patients with motor neuron disease. Six healthy volunteers served as controls. Transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris was used to determine motor latencies to the biceps brachii, thenar eminence and tibialis anterior muscles. Prominent, and ofte...

objective we describe three patients with very severe spinal muscular atrophy (sma) presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. in all infants, electrodiagnostic studies were compatible with a neurogenic pattern. in genetic studies, all cases had homozygous deletions of exons 7 and 8 of survival motor neuron (smn) a...

In motor neuron disease, the focus of therapy is to prevent or slow neuronal degeneration with neuroprotective pharmacological agents; early diagnosis and treatment are thus essential. Incorporation of needle electromyographic evidence of lower motor neuron degeneration into diagnostic criteria has undoubtedly advanced diagnosis, but even earlier diagnosis might be possible by including tests o...

Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the extremity muscles with CAG triplet repeat expansion in androgen receptor gene. Hirayama (HD) juvenile onset asymmetric amyotrophy hand most common males Asia. We report a patient atypical Kennedy presenting typical HD.

Thermal thresholds were determined in 40 patients with motor neuron disease and in 40 age- and sex-matched healthy subjects. The thermal thresholds were estimated on the skin of wrist and ankle using an automated microprocessor controlled system and the "two alternative forced-choice method" of psycholphysical analysis. Abnormalities of thermal thresholds (greater than or equal to 99th percenti...

Thirty five individual macro EMG motor unit potentials in 13 patients with motor neuron disease were recorded every 15 minutes during a 2 hour period. No significant change in amplitude or area was seen in 15 control units in nine patients or in 20 units in 11 patients receiving RX77368 0.2-0.3 mg/kg. The findings provide no evidence for an action of this long acting TRH analogue on the periphe...