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

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  • Nakamura Norimichi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Kawamura Nobutoshi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Tateishi Takahisa
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Doi Hikaru
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Ohyagi Yasumasa
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
  • Kira Jun-ichi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University

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Other Title
  • 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
  • 症例報告 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
  • ショウレイ ホウコク フクコウカン シンケイ ショウガイ オ シュチョウ ト シタ MPZ イデンシ ヘンイ Thr124Met ニ ヨル Charcot Marie Toothビョウ ノ 1レイ

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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.<br>

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 49 (9), 582-585, 2009

    Societas Neurologica Japonica

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