Here, we report loss-of-function mutations in AARS in two siblings with progressive microcephaly with hypomyelination, intractable epilepsy, and spasticity.
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyelination and progressive atrophy of the basal ganglia and cerebellum due to a genetic mutation of the TUBB4A gene.
Our report highlights ACP5-associated disease as a cause of childhood-onset autoimmune cytopenia, particularly combined with growth retardation and/or spasticity.
Potent suppression of stretch reflex activity after systemic or spinal delivery of tizanidine in rats with spinal ischemia-induced chronic spastic paraplegia.
Controllable factors included spasticity (HR=1.11;95%CI=1.04-1.20), incomplete healing before discharge (HR=5.42;95% CI=3.95-7.44), serum albumin level ≤3 g/dL (HR=1.27;95%CI=1.13-1.43), pressure ulcer stage 4 (HR=1.90;95%CI=1.41-2.54), non -muscle-based procedure (HR=3.82;95%CI=2.54-5.76), and length of hospitalization >21 days (HR=2.94;95%CI=1.60-5.40).
Behavioral studies demonstrated slowed movement without muscle weakness in ALS2(-/-) mice, consistent with upper motor neuron defects that lead to spasticity in humans.