e-ISSN 1309-2545      ISSN 1301-062X
TR    ENG
 

Download Current Issue.

Volume : 25 Issue : 3 Year : 2019

Current Issue Archive Popular Articles Ahead of Print Submit Your Article Login
Turkish Journal of Neurology Indexed By
 
  Search






A Family with Vocal Cord Paralysis Associated with GDAP1 Mutation in Giresun, Turkey [Turk J Neurol]
Turk J Neurol. 2015; 21(3): 124-126 | DOI: 10.4274/tnd.38358  

A Family with Vocal Cord Paralysis Associated with GDAP1 Mutation in Giresun, Turkey

Nilgün Erten1, Esra Battaloğlu2, Alperen Erdogan2, Erdal Seren3
1Department Of Neurology, Giresun University, Giresun, Turkey
2Department Of Molecular Biology And Genetics, Bogazici University, Istanbul, Turkey
3Department Of Otorhinolaryngology, Giresun University, Giresun, Turkey

A Turkish family living in northern Turkey with hereditary neuropathy is described herein. The current study presents two sisters with severe proximal and distal motor deficits, anatomic deformities, such as pes cavus and claw hand, dependent on wheelchairs, and born to parents with fifth degree consanguinity and who developed vocal cord paralysis in the follow-up. The genetic analysis revealed that the siblings were homozygous for p.Q38X (c.112C>T) mutation in the GDAP1 gene. There are rare reports of vocal cord paresis in patients with hereditary neuropathy that could result in respiratory difficulty in their clinical courses. The aim of the current study was to highlight the importance of genetic studies that would predict the development of vocal cord paralysis, which could reduce the expected life span in patients with hereditary neuropathy commonly encountered in the area due to consanguineous marriage.

Keywords: Vocal cord paralysis, hereditary neuropathy, GDAP1 gene


Nilgün Erten, Esra Battaloğlu, Alperen Erdogan, Erdal Seren. A Family with Vocal Cord Paralysis Associated with GDAP1 Mutation in Giresun, Turkey. Turk J Neurol. 2015; 21(3): 124-126

Corresponding Author: Nilgün Erten, Türkiye


TOOLS
English Full Text
Print
Download citation
RIS
EndNote
BibTex
Medlars
Procite
Reference Manager
Share with email
Share
Send email to author

Similar articles
PubMed
Google Scholar




 
© Copyright 2019 Turkish Journal of Neurology
Home        |        Contact
LookUs & OnlineMakale