Neurogenic and myogenic contributions to hereditary motor neuron disease.
Spinal muscular atrophy and spinal and bulbar muscular atrophy are characterized by lower motor neuron loss and muscle atrophy. Although it is accepted that motor neuron loss is a primary event in disease pathogenesis, inherent defects in muscle may also contribute to the disease progression and severity. In this review, we discuss the relative contributions of primary pathological processes in the motor axons, neuromuscular junctions and muscle to disease manifestations. Characterizing these contributions helps us to better understand the disease mechanisms and to better target therapeutic intervention.
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Katherine V
KV
Bricceno
Kenneth H
KH
Fischbeck
Barrington G
BG
Burnett
D018450:Disease Progression; D006801:Humans; D016472:Motor Neuron Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D009046:Motor Neurons / Q000473:pathology; D024510:Muscle Development / Q000502:physiology*; D009133:Muscular Atrophy / Q000473:pathology; D055495:Neurogenesis / Q000502:physiology*; D012720:Severity of Illness Index