Back to Search
Start Over
[Genetics of neuropathies].
- Source :
-
Der Nervenarzt [Nervenarzt] 2013 Feb; Vol. 84 (2), pp. 157-65. - Publication Year :
- 2013
-
Abstract
- Hereditary neuropathies belong to the most common neurogenetic disorders. They appear mostly as sensory and motor neuropathies but there are also pure sensory, pure motor as well as sensory and autonomic hereditary neuropathies. In clinical practice, knowledge of hereditary neuropathies is important in order to recognize them among polyneuropathies and achieve a successful genetic diagnosis. The molecular genetics of hereditary neuropathies are very heterogeneous with currently more than 40 known disease-causing genes. The 4 most common genes account for almost 90% of the genetically diagnosed hereditary neuropathies. In this review article we provide an overview of the currently known genes and propose a rational genetic work-up protocol of the most common genes.
- Subjects :
- Algorithms
Charcot-Marie-Tooth Disease classification
Charcot-Marie-Tooth Disease diagnosis
Charcot-Marie-Tooth Disease epidemiology
Charcot-Marie-Tooth Disease genetics
Cross-Sectional Studies
Disability Evaluation
Genetic Testing
Hereditary Sensory and Autonomic Neuropathies classification
Hereditary Sensory and Motor Neuropathy classification
Hereditary Sensory and Motor Neuropathy diagnosis
Hereditary Sensory and Motor Neuropathy epidemiology
Hereditary Sensory and Motor Neuropathy genetics
Humans
Nervous System Diseases classification
Nervous System Diseases diagnosis
Nervous System Diseases epidemiology
Neurologic Examination
Polyneuropathies classification
Polyneuropathies diagnosis
Polyneuropathies epidemiology
Polyneuropathies genetics
Prognosis
Nervous System Diseases genetics
Subjects
Details
- Language :
- German
- ISSN :
- 1433-0407
- Volume :
- 84
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Der Nervenarzt
- Publication Type :
- Academic Journal
- Accession number :
- 23325310
- Full Text :
- https://doi.org/10.1007/s00115-012-3640-4