Spinocerebellar ataxia type 1 (SCA1) is characterized by adult-onset cerebellar degeneration with attendant loss of motor coordination. Bulbar function is eventually impaired and patients typically die from an inability to clear the airway. We investigated whether motor neuron degeneration is at the root of bulbar dysfunction by studying SCA1 knock-in (Atxn1154Q/+ ) mice. Spinal cord and brains...

Motor neuron disease (MND) is a fatal neurodegenerative disorder caused by progressive and selective degeneration of motor neurons (MNs). Because of the versatile nature, stem cells have the potential to repair or replace the degenerated cells. In this review, we discussed stem cell based therapies including the use of embryonic stem cells (ESCs), neural stem cells (NSCs), induced pluripotent s...

Larval motor neurons remodel during Drosophila neuro-muscular junction dismantling at metamorphosis. In this study, we describe the motor neuron retraction as opposed to degeneration based on the early disappearance of β-Spectrin and the continuing presence of Tubulin. By blocking cell dynamics with a dominant-negative form of Dynamin, we show that phagocytes have a key role in this process. Im...

genes that control motor neuron induction, subtype identity, and target specificity. Mice were mutagenized with ENU and outcrossed to an HB9-GFP transgenic reporter line that expresses GFP in spinal motor neurons and their axons. Litters were analyzed by fluorescence microscopy for recessive mutations that affect motor neuron induction and motor axon projection pattern. We have screened 137 F1 ...

genes that control motor neuron induction, subtype identity, and target specificity. Mice were mutagenized with ENU and outcrossed to an HB9-GFP transgenic reporter line that expresses GFP in spinal motor neurons and their axons. Litters were analyzed by fluorescence microscopy for recessive mutations that affect motor neuron induction and motor axon projection pattern. We have screened 137 F1 ...

Syringomyelia is a progressive neurological disorder in which fluid-filled cyst known as syrinx forms within the spinal cord. The case of 20-year adult presented with lower limb stiffness and difficulty walking for last 3 years. For 1 year, he also developed upper limbs. Upon examination, had spastic gait no ataxia. There was muscle wasting both limbs, fasciculation. Tone increased reduced powe...

Kennedy's disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological ...

Spast ic i ty is def ined as a movement disorder characterised by a velocity-dependent increase in tonic stretch reflexes. Children with spastic CP have a neuromuscular mobility impairment stemming from an upper motor neuron lesion in the brain over the areas in the motor cortex or the corticospinal tract, which descends in the spinal cord, in the lateral columns and carries signals for volunta...

Motor neuron disease (MND) is a neurodegenerative condition long thought to be associated only with motor weakness. Recent work now shows that cognitive difficulties are present in up to half of the patients with this disorder. About 5-10% of patients with MND have a frank dementia that resembles frontotemporal lobar degeneration (FTLD). Imaging studies show quantitative abnormalities that rese...

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder of the motor neurons in the motor cortex, brainstem and spinal cord. A combination of upper and lower motor neuron dysfunction comprises the clinical ALS phenotype. Although the ALS phenotype was first observed by Charcot over 100 years ago, the site of ALS onset and the pathophysiological mechanisms underly...