NDLI: Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Please wait, while we are loading the content...

Low-molecular-weight heparin or dual antiplatelet therapy is more effective than aspirin alone in preventing early neurological deterioration and improving the 6-month outcome in ischemic stroke patients.

The effects of galantamine treatment on attention and its relationship with cognition and activities of daily living in patients with mild to moderate Alzheimer's disease.

A low baseline glomerular filtration rate predicts poor clinical outcome at 3 months after acute ischemic stroke.

Low-density-lipoprotein particle size predicts a poor outcome in patients with atherothrombotic stroke.

Paraneoplastic limbic encephalitis in a male with squamous cell carcinoma of the lung.

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.

Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region.

Erratum: Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease

Erratum: Hyperhomocysteinemia and Neurologic Disorders: a Review

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episode Syndrome Presenting with Prolonged Visual Aura

Evaluation of Novel Platelet Polymorphisms in Stroke. Dichotomic Effect of rs5443 in GNB3

Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Paraneoplastic Limbic Encephalitis in a Male with Squamous Cell Carcinoma of the Lung

Low-Density-Lipoprotein Particle Size Predicts a Poor Outcome in Patients with Atherothrombotic Stroke

The Effects of Galantamine Treatment on Attention and Its Relationship with Cognition and Activities of Daily Living in Patients with Mild to Moderate Alzheimer's Disease

Low-Molecular-Weight Heparin or Dual Antiplatelet Therapy Is More Effective Than Aspirin Alone in Preventing Early Neurological Deterioration and Improving the 6-Month Outcome in Ischemic Stroke Patients

Improved Serum Leptin and Ghrelin Following Bariatric Surgery Predict Better Postoperative Cognitive Function

Whole-Brain Diffusion-Tensor Changes in Parkinsonian Patients with Impulse Control Disorders

Suicidality and Its Risk Factors in Korean People with Epilepsy: A MEPSY Study

Efficacy of and Patient Compliance with a Ketogenic Diet in Adults with Intractable Epilepsy: A Meta-Analysis

Cognitive Function in Childhood Epilepsy: Importance of Attention Deficit Hyperactivity Disorder

Oral Disease-Modifying Therapies for Multiple Sclerosis

Endovascular Therapy for Ischemic Stroke

Year: 2014 Volume: 10

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Choi, Ye Ji Hyun, Young Se Nam, Soo Hyun Koo, Heasoo Hong, Young Bin Chung, Ki Wha Choi, Byung Ok
Description	Responsible library: WPRO
Abstract	BACKGROUND: Mutations in the gene encoding periaxin (PRX) are known to cause autosomal recessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean patients with these mutations. CASE REPORT: We examined a Korean DSN patient with an early-onset, slowly progressive, demyelinating neuropathy with prominent sensory involvement. Whole-exome sequencing and subsequent capillary sequencing revealed novel compound heterozygous nonsense mutations (p.R392X and p.R679X) in PRX. One mutation was transmitted from each of the patient's parents. No unaffected family member had both mutations, and the mutations were not found in healthy controls. CONCLUSIONS: We believe that these novel compound heterozygous nonsense mutations are the underlying cause of DSN. The clinical, electrophysiologic, and pathologic phenotypes in this family were similar to those described previously for patients with PRX mutations. We have identified the first PRX mutation in a Korean patient with DSN.
File Format	HTM / HTML
ISSN	17386586
e-ISSN	20055013
Journal	Journal of Clinical Neurology
Issue Number	1
Volume Number	11
Language	English
Publisher	Korean Neurological Association
Publisher Date	2015-01-01
Publisher Place	Korea (South)
Access Restriction	Open
Subject Keyword	Discipline Neurology Capillaries Charcot-marie-tooth Disease Codon, Nonsense Hereditary Sensory And Motor Neuropathy Peripheral Nerves Phenotype
Content Type	Text
Resource Type	Case study Article
Subject	Neurology Neurology (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized by a Mild Phenotype

Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy

Genetics of Charcot-Marie-Tooth Disease

Nouveautés dans les maladies de Charcot-Marie-Tooth et les neuropathies sensitives et dysautonomiques héréditaires.

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Similar Documents

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized by a Mild Phenotype

Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy

Genetics of Charcot-Marie-Tooth Disease

Nouveautés dans les maladies de Charcot-Marie-Tooth et les neuropathies sensitives et dysautonomiques héréditaires.

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family