Blink reflex role in algorithmic genetic testing of inherited polyneuropathies

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2 Citations (Scopus)

Abstract

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 Nerve, 2016

Original languageEnglish (US)
JournalMuscle and Nerve
DOIs
StateAccepted/In press - 2016

Fingerprint

Blinking
Polyneuropathies
Genetic Testing
Neural Conduction
Extremities
Demyelinating Diseases
Muscles

Keywords

  • Blink reflex
  • Charcot-Marie-Tooth disease
  • Demyelinating polyneuropathy
  • Genetic testing
  • Inherited polyneuropathy
  • PMP22

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Cite this

@article{3bafe507213a4ee39427940036da4dac,
title = "Blink reflex role in algorithmic genetic testing of inherited polyneuropathies",
abstract = "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 Nerve, 2016",
keywords = "Blink reflex, Charcot-Marie-Tooth disease, Demyelinating polyneuropathy, Genetic testing, Inherited polyneuropathy, PMP22",
author = "Wei Wang and Litchy, {William J} and Jayawant Mandrekar and Dyck, {Peter J} and Klein, {Christopher Jon}",
year = "2016",
doi = "10.1002/mus.25250",
language = "English (US)",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",

}

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T1 - Blink reflex role in algorithmic genetic testing of inherited polyneuropathies

AU - Wang, Wei

AU - Litchy, William J

AU - Mandrekar, Jayawant

AU - Dyck, Peter J

AU - Klein, Christopher Jon

PY - 2016

Y1 - 2016

N2 - 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 Nerve, 2016

AB - 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 Nerve, 2016

KW - Blink reflex

KW - Charcot-Marie-Tooth disease

KW - Demyelinating polyneuropathy

KW - Genetic testing

KW - Inherited polyneuropathy

KW - PMP22

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