Predominant parasympathetic involvement in a patient with CMT disease

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Rinsho Shinkeigaku. 2009 Sep;49(9):582-5.

Predominant parasympathetic involvement in a patient with Charcot-Marie-Tooth

disease caused by the MPZ Thr124Met mutation

Nakamura N, Kawamura N, Tateishi T, Doi H, Ohyagi Y, Kira J.

Department of Neurology, Neurological Institute, Graduate School of Medical

Sciences, Kyushu University.

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.