Hereditary neuropathy with liability to pressure palsies
| العنوان: | Hereditary neuropathy with liability to pressure palsies |
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| المؤلفون: | Davide Pareyson, Yusuf A. Rajabally, Farzad Fatehi, Shahram Attarian |
| المصدر: | Journal of Neurology. 267:2198-2206 |
| بيانات النشر: | Springer Science and Business Media LLC, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, Conduction abnormalities, Neurology, Nerve biopsy, medicine.diagnostic_test, business.industry, Peripheral myelin, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Medicine, 030212 general & internal medicine, Neurology (clinical), Young adult, business, Hereditary motor and sensory neuropathy, Pathological, 030217 neurology & neurosurgery, Neuroradiology |
| الوصف: | Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or young adulthood, focal conduction abnormalities at entrapment sites on nerve conduction studies, and sausage-like swellings (tomacula) of the myelin sheaths by nerve biopsy. It is characterized genetically by the deletion of the chromosome 17p11.2-p12 region including the peripheral myelin protein-22 gene in the overwhelming majority of cases. HNPP may be frequently underdiagnosed or misdiagnosed owing to the heterogeneity of clinical and electrophysiological appearance. The main objective of this review is to describe clinical manifestations, paraclinical features such as electrodiagnostic, pathological, radiological and genetics findings, and possible treatments. |
| تدمد: | 1432-1459 0340-5354 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::a846b4eee4e6635f842a7ea420566675Test https://doi.org/10.1007/s00415-019-09319-8Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........a846b4eee4e6635f842a7ea420566675 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14321459 03405354 |
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