Polyglucosan bodies in intramuscular nerve branches are a poor predictor ofGBE1mutation and adult polyglucosan body disease
| Autor: | Michelle N. Wurst, Bradley C. Long, Jeremy P. Segal, Sabah Kadri, Peter Pytel, Larissa V. Furtado |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Physiology medicine.disease_cause Compound heterozygosity 03 medical and health sciences Cellular and Molecular Neuroscience chemistry.chemical_compound 0302 clinical medicine Peripheral nerve Physiology (medical) medicine Missense mutation Mutation Muscle biopsy medicine.diagnostic_test Glycogen business.industry Adult polyglucosan body disease Clinical disease 030104 developmental biology chemistry Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Muscle & Nerve. 53:473-475 |
| ISSN: | 0148-639X |
| DOI: | 10.1002/mus.25017 |
| Popis: | INTRODUCTION Adult polyglucosan body disease (APBD) is associated with formation of polyglucosan bodies in peripheral nerve branches. Some muscle biopsies show these inclusions in intramuscular nerve branches. It has not been established whether the presence of multiple polyglucosan bodies in intramuscular peripheral nerve branches could or should suggest testing for APBD. METHODS Fifteen muscle biopsies from adults between the ages of 36 and 84 years, all showing polyglucosan bodies in intramuscular peripheral nerve twigs, were tested by sequencing of the GBE1 gene. RESULTS In 4 patients, testing identified heterozygous missense mutations not previously described. No homozygous or compound heterozygous mutations were identified. CONCLUSIONS The presence of polyglucosan bodies in intramuscular nerve twigs by itself, even if they are multiple, is not an indication of APBD. Further testing may only be indicated in patients with clinical disease manifestations. |
| Databáze: | OpenAIRE |
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