单位：[1]Department of Neurology, Mayo Clinic, 200 First Street, SW, Rochester, Minnesota, 55905 USA[2]Department of Neurology, China-Japan Friendship Hospital, Beijing, China[3]Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA[4]Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA[5]Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA
Introduction: In severely affected inherited polyneuropathy patients, primary demyelination can be difficult to determine by routine extremity limb nerve conduction studies (NCS). Blink reflexes may help classify severe polyneuropathies as either axonal or demyelinating. However, blink reflex studies have not been studied systematically in any genetically confirmed cohort. Methods: Patients with a genetic diagnosis who had undergone blink reflex testing and extremity NCS were identified retrospectively. Blink reflex R1 latency, extremity NCS, and severity were compared. Results: We identified 26 demyelinating and 23 axonal, genetically confirmed cases, including 20 with PMP22 duplications. In 12 (25%), the ulnar CMAP amplitude was 0.5 mV making electrophysiological classification difficult. However, the R1-latency cutoff of >13 ms (demyelinating) robustly classified all patients regardless of severity. Conclusions: We show that blink reflex studies are reliable for identification of inherited demyelinating polyneuropathy regardless of severity and can facilitate algorithmic decisions in genetic testing. Muscle Nerve55: 316-322, 2017
第一作者单位：[1]Department of Neurology, Mayo Clinic, 200 First Street, SW, Rochester, Minnesota, 55905 USA[2]Department of Neurology, China-Japan Friendship Hospital, Beijing, China
通讯作者：
通讯机构：[1]Department of Neurology, Mayo Clinic, 200 First Street, SW, Rochester, Minnesota, 55905 USA[4]Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA[5]Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA
推荐引用方式(GB/T 7714)：
Wang Wei,Litchy William J.,Mandrekar Jay,et al.Blink reflex role in algorithmic genetic testing of inherited polyneuropathies[J].MUSCLE & NERVE.2017,55(3):316-322.doi:10.1002/mus.25250.
APA：
Wang, Wei,Litchy, William J.,Mandrekar, Jay,Dyck, Peter J.&Klein, Christopher J..(2017).Blink reflex role in algorithmic genetic testing of inherited polyneuropathies.MUSCLE & NERVE,55,(3)
MLA：
Wang, Wei,et al."Blink reflex role in algorithmic genetic testing of inherited polyneuropathies".MUSCLE & NERVE 55..3(2017):316-322
