Predominant parasympathetic involvement in a patient with Charcot-Marie-Tooth disease caused by the MPZ Thr124Met mutation

Norimichi Nakamura, Nobutoshi Kawamura, Takahisa Tateishi, Hikaru Doi, Yasumasa Ohyagi, Jun Ichi Kira

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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 Valsalva's 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.

Original languageEnglish
Pages (from-to)582-585
Number of pages4
JournalClinical Neurology
Volume49
Issue number9
DOIs
Publication statusPublished - Sep 2009

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

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