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Hereditary Neuropathies: Update 2017
| Content Provider | Scilit |
|---|---|
| Author | Auer-Grumbach, Michaela Senderek, Jan Rudnik-Schöneborn, Sabine |
| Copyright Year | 2017 |
| Description | Hereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are additional entities such as hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMNs), and hereditary sensory and autonomic neuropathies (HSANs). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether close to 100 genes involved. Mutation detection rates vary considerably, reaching up to 80% in demyelinating CMT (CMT1) but are still as low as 10 to 30% in axonal CMT (CMT2), HMN, and HSAN. Based on current information, analysis of only four genes (PMP22, GJB1, MPZ, MFN2) identifies 80 to 90% of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and genetic testing algorithms in the different subgroups of hereditary neuropathies. |
| Related Links | http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0037-1603518.pdf |
| Ending Page | 293 |
| Page Count | 12 |
| Starting Page | 282 |
| ISSN | 0174304X |
| e-ISSN | 14391899 |
| DOI | 10.1055/s-0037-1603518 |
| Journal | Neuropediatrics |
| Issue Number | 04 |
| Volume Number | 48 |
| Language | English |
| Publisher | Georg Thieme Verlag KG |
| Publisher Date | 2017-06-08 |
| Access Restriction | Open |
| Subject Keyword | Journal: Neuropediatrics Charcot–marie–tooth's Disease Hereditary Motor and Sensory Neuropathy Hereditary Neuropathy with Liability To Pressure Palsies Hereditary Motor Neuropathy Distal Spinal Muscular Atrophy Hereditary Sensory and Autonomic Neuropathy Genetic Testing Algorithm Genotype–phenotype Correlation |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology (clinical) Pediatrics, Perinatology and Child Health |
