Yield of the PMP22 deletion analysis in patients with compression neuropathies
| Autor: | Ivana Novakovic, Radoje Tubic, Stojan Peric, Milena Jankovic, Aleksandra Kacar, Marija Branković, Ana Marjanovic, Vidosava Rakocevic-Stojanovic, Bogdan Bjelica, Vukan Ivanovic |
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| Rok vydání: | 2020 |
| Předmět: |
Pes cavus
medicine.medical_specialty Neurology Gastroenterology Nerve conduction velocity 03 medical and health sciences 0302 clinical medicine Charcot-Marie-Tooth Disease Internal medicine medicine Humans 030212 general & internal medicine Family history Neuroradiology Arthrogryposis business.industry Nerve Compression Syndromes medicine.disease Muscle atrophy Reflex Neurology (clinical) medicine.symptom Hereditary Sensory and Motor Neuropathy business Polyneuropathy Gene Deletion Myelin Proteins 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neurology. 267:3617-3623 |
| ISSN: | 1432-1459 0340-5354 |
| DOI: | 10.1007/s00415-020-10052-w |
| Popis: | Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare neuromuscular disorder, mostly caused by PMP22 deletion. To determine a yield of the genetic analysis of PMP22 gene deletion in patients with compression neuropathies. We included 112 patients with clinical suspicion of HNPP diagnosis. Nerve conduction studies (NCS) were performed for motor and sensory nerves bilaterally. Number of the PMP22 gene copies was determined using a real-time polymerase chain reaction (RT-PCR). PMP22 deletion was found in 34 (30.3%) patients. Patients with genetically confirmed HNPP had 12 years earlier disease onset compared to other patients with compression neuropathies (p |
| Databáze: | OpenAIRE |
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