Neuromuscular synapse elimination, Wallerian degeneration and peripheral neuropathies are not normally considered as related phenomena. However, recent studies of mutant and transgenic mice, particularly the Wld(S) mutant-in which orthograde degeneration is delayed following axotomy-suggest that re-evaluation of possible links between natural, traumatic and pathogenic regression of synapses may...

OBJECTIVE Charcot-Marie-Tooth type 2P (CMT2P) has been associated with frameshift mutations in the RING domain of LRSAM1 (an E3 ligase). This study describes families with a novel missense mutation of LRSAM1 gene and explores pathogenic mechanisms of CMT2P. METHODS Patients with CMT2P were characterized clinically, electrophysiologically, and genetically. A neuronal model with the LRSAM1 muta...

The wobbler mouse is an animal model for human motor neuron disease, such as amyotrophic lateral sclerosis (ALS). The spontaneous, recessive wobbler mutation causes degeneration of upper and lower motor neurons leading to progressive muscle weakness with striking similarities to the ALS pathology. The wobbler mutation is a point mutation affecting Vps54, a component of the Golgi-associated retr...

background: parkinson’s disease (pd) is a common neurodegenerative disease resulting from the degeneration of dopaminergic (da) neurons in the substantia nigra pars compacta (snc). increasing evidence demonstrated that mice treated intranasally with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (mptp) suffered impairments in motor functions associated with disruption of da neurons in snc conceiv...

Neuromuscular junctions (NMJs) are specialized synapses between the axon of lower motor neuron and muscle facilitating engagement contraction. In disorders, such as amyotrophic lateral sclerosis (ALS) spinal muscular atrophy (SMA), NMJs degenerate, resulting in progressive paralysis. The underlying mechanism NMJ degeneration is unknown, largely due to lack translatable research models. This stu...

Motor neuron disease (MND) is a rare group of disorders characterized by degeneration motor neurons (MNs). The most common form MND, amyotrophic lateral sclerosis (ALS), an incurable with variable rate progression. search robust biomarkers able to discriminate among different ALS forms paramount properly stratify patients, and identify those who could likely benefit from experimental therapies....

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the selective death of motor neurons in the motor cortex, brainstem, and spinal cord. A large number of rodent models are available that show motor neuron death and a progressive motor phenotype that is more or less reminiscent of what occurs in patients. These rodent models contain genes with spontaneous or in...