title: Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation.
abstract: 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 (123)I-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.
authors.affiliation: Department of Neurology, Kyoto Prefectural University of Medicine, Graduate School of Medicine, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Tokuda
authors.forename: Yu-Ichi
authors.initials: Y
authors.lastname: Noto
authors.forename: Fukiko
authors.initials: F
authors.lastname: Kitani-Morii
authors.forename: Ai
authors.initials: A
authors.lastname: Hamano
authors.forename: Takashi
authors.initials: T
authors.lastname: Kasai
authors.forename: Kensuke
authors.initials: K
authors.lastname: Shiga
authors.forename: Ikuko
authors.initials: I
authors.lastname: Mizuta
authors.forename: Fumitoshi
authors.initials: F
authors.lastname: Niwa
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Toshiki
authors.initials: T
authors.lastname: Mizuno
mesh_terms: D000368:Aged; D001342:Autonomic Nervous System Diseases / Q000150:complications*; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics*; D005091:Exons; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D018993:Myelin P0 Protein