Four animal models with mutations in the glycine receptor's gene support the importance of this subunit in the pathogenesis of hyperekplexia. Three of these are lines of mutant mice with a recessively inherited startle syndrome. In the “spasmodic” mouse, a missense mutation in the α1subunit...
A diagnosis of myelopathy was established based on the presence of hyperreflexia, including a positive Hoffmann sign, upper extremity sensory disturbance and obvious MRI-documented cervical spinal cord compression. Sensory and motor nerve conduction velocities in the peripheral nerves were within normal ...
Of the 12 patients, 9 (75%) regained satisfactory bladder control within 6 to 12 months after ventral root microanastomosis. In these 9 patients, urodynamic studies revealed a change from detrusor hyperreflexia with DESD and high detrusor pressure to almost normal storage and synergic voiding ...