Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Internal medicine (Tokyo, Japan) - 1 Jan 2015

Tokuda Naoki, Noto Yu-Ichi, Kitani-Morii Fukiko, Hamano Ai, Kasai Takashi, Shiga Kensuke, Mizuta Ikuko, Niwa Fumitoshi, Nakagawa Masanori, Mizuno Toshiki

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Autonomic Nervous System Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Charcot-Marie-Tooth Disease

Share to Hearing Loss, Sensorineural

Share to Mutation

Share to Myelin P0 Protein

Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 26234237
DOI: 10.2169/internalmedicine.54.4259

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation.PMID 26234237Read ↗

[Predominant parasympathetic involvement in a patient with Charcot-Marie-Tooth disease caused by the MPZ Thr124Met mutation].Semantic proximity Read ↗

The Postural Tachycardia Syndrome : a multi-system condition : clinical features, pathophysiology, genetics and novel treatmentSemantic proximity Read ↗

Case of Charcot-Marie-Tooth Type 2C Due to a TRPV4 Gene Mutation With Isolated Sudomotor Autonomic Dysfunction.Semantic proximity Read ↗

Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation.Semantic proximity Read ↗

Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic data.Semantic proximity Read ↗

Heart rate variability and sympathetic skin response for the assessment of autonomic dysfunction in leucine-rich repeat kinase 2 associated Parkinson's disease.Semantic proximity Read ↗

A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder.Semantic proximity Read ↗

Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis.Semantic proximity Read ↗

Autonomic dysfunction in parkinsonian LRRK2 mutation carriers.Semantic proximity Read ↗

GNB3 C825T polymorphism is associated with postural tachycardia syndrome in children.Semantic proximity Read ↗

Altered circadian patterns of diurnal blood pressure in clinical phenotypes of bruxism: A pilot study on autonomic imbalance in healthy young adults.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.