Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation

被引：10

作者：

Tokuda, Naoki ^{[1
]}

Noto, Yu-ichi ^{[1
]}

Kitani-Morii, Fukiko ^{[1
]}

Hamano, Ai ^{[1
]}

Kasai, Takashi ^{[1
]}

Shiga, Kensuke ^{[2
]}

Mizuta, Ikuko ^{[1
]}

Niwa, Fumitoshi ^{[3
]}

Nakagawa, Masanori ^{[3
]}

Mizuno, Toshiki ^{[1
]}

机构：

[1] Kyoto Prefectural Univ Med, Grad Sch Med, Dept Neurol, Kyoto 602, Japan

[2] Kyoto Prefectural Univ Med, Grad Sch Med, Dept Med Educ & Primary Care, Kyoto 602, Japan

[3] Kyoto Prefectural Univ Med, Grad Sch Med, Med Ctr N, Kyoto 602, Japan

来源：

INTERNAL MEDICINE | 2015年 / 54卷 / 15期

关键词：

Charcot-Marie-Tooth disease type 2J; MPZ Thr124Met mutation; autonomic dysfunction; Adie's pupil; myelin protein zero; PROTEIN ZERO GENE; MOTOR;

D O I：

10.2169/internalmedicine.54.4259

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We herein report the case of a 69-year-old woman with Charcot-Marie-Tooth Disease type 2J (CMT2J) who presented with Adie's pupil, deafness, and urinary disturbance in addition to motor symptoms. On autonomic investigation, the coefficient of variation of the R-R intervals was decreased, and a urodynamic analysis showed a hypotonic bladder. A heart rate variability analysis revealed a decreased high frequency component and low frequency/high frequency ratio. Orthostatic hypotension was not present, and the sympathetic skin response and cardiac scintigraphy using I-123-metaiodobenzylguanidine were normal. A gene analysis showed a known heterozygous mutation associated with CMT2J in myelin protein zero exon 3, resulting in the substitution of threonine to methionine at position 124. Our case suggests that mainly the parasympathetic autonomic function is disturbed in CMT2J.

引用

页码：1919 / 1922

页数：4

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