On the differential diagnosis of neuropathy in neurogenetic disorders-Reference-Cited by-同舟云学术

On the differential diagnosis of neuropathy in neurogenetic disorders

Published:2020-09-01 Issue:3 Volume:32 Page:243-261
ISSN:1863-5490
Container-title:Medizinische Genetik
language:en
Short-container-title:

Author:

Cirak Sebahattin¹²,Daimagüler Hülya-Sevcan³,Moawia Abubakar¹,Koy Anne¹²,Yis Uluc³

Affiliation:

1. Department of Pediatrics, Faculty of Medicine and University Hospital Cologne , University of Cologne , Cologne , Germany

2. Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne , University of Cologne , Cologne , Germany

3. Division of Pediatrics Neurology, Department of Pediatrics, Faculty of Medicine , Dokuz Eylul University , Izmir , Turkey

Abstract

Abstract Neuropathy might be the presenting or accompanying sign in many neurogenetic and metabolic disorders apart from the classical-peripheral neuropathies or motor-neuron diseases. This causes a diagnostic challenge which is of particular relevance since a number of the underlying diseases could be treated. Thus, we attempt to give a clinical overview on the most common genetic diseases with clinically manifesting neuropathy.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

https://www.degruyter.com/document/doi/10.1515/medgen-2020-2040/pdf

Reference113 articles.

1. Bassuk AG, Wallace RH, Buhr A et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008;83:572–81.

2. Delle Vedove A, Storbeck M, Heller R et al. Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. Am J Hum Genet. 2016;99:1406–8.

3. Fazeli W, Karakaya M, Herkenrath P et al. Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis. Mol Cell Pediatr. 2016;3:22.

4. Naumann M, Peikert K, Gunther R et al. Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis. Ann Clin Transl Neurol. 2019;6:2384–94.

5. Paketci C, Karakaya M, Edem P et al. Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies. Rev Neurol (Paris). 2020.

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