河村 信利

Combined central and peripheral demyelinationの新規標的：neurofascin

Combined central and peripheral demyelination (CCPD) is a rare clinical entity characterized by inflammatory demyelination in both the central and peripheral nervous system. A recently conducted nation-wide survey revealed that clinical features of CCPD are atypical for multiple sclerosis, including an absence of oligoclonal immunoglobulin G bands in most CCPD cases. We found that autoantibody responses of CCPD target the nodes and paranodes of Ranvier in the brain and peripheral nerve tissues. We identified anti-neurofascin antibody in the serum from these CCPD patients. CCPD patients showed a significantly higher positive rate of anti-neurofascin antibody than the other limited form of inflammatory demyelinating diseases. Autoantibody responses targeting neurofascins, which are common proteins to the central and peripheral nervous system may play a pivotal role in combined demyelination in CCPD.

副交感神経障害を主徴としたMPZ遺伝子変異Thr124MetによるCharcot-Marie-Tooth病の1例

Erectile dysfunction, dysuria, photophobia, and chronic cough developed insidiously in a 49-year-old man from his third decade. Severe difficulty of urination resulted in intermittent catheterization. He had six family members who had suffered similar autonomic symptoms with or without motor deficits. He presented asymmetrical tonic pupils, a neurogenic bladder, and mild sensory impairment in the distal parts of the bilateral lower limbs without orthostatic hypotension and motor deficits. Nerve conduction studies revealed mild axonal changes with slightly reduced conduction velocities in the lower limbs. His left pupil over-responded to instillation with 0.125% pilocarpine. Functional bladder tests showed an atonic bladder, suggesting postganglionic parasympathetic involvement. Autonomic evaluation for sympathetic components including head-up tilt, beat to beat responses to Valsalvas maneuver, cardiac MIBG imaging, plasma catecholamine levels and sweat tests were all normal. A genetic test disclosed a heterozygous mutation of myelin protein zero (MPZ); p.Thr124Met. Selectively distributed dysautonomia in this pedigree may indicate parasympathetic postganglionic components including the ganglion as the primary target of this mutated MPZ in the autonomic nervous system.