Blink reflex role in algorithmic genetic testing of inherited polyneuropathies

Autor: Wei Wang, Jayawant N. Mandrekar, Christopher J. Klein, William J. Litchy, Peter J. Dyck
Rok vydání: 2016
Předmět:
Adult
Male
0301 basic medicine
medicine.medical_specialty
Adolescent
Physiology
Primary demyelination
Neural Conduction
Cohort Studies
Polyneuropathies
Young Adult
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Physical medicine and rehabilitation
Physiology (medical)
medicine
Humans
Genetic Testing
Corneal reflex
Latency (engineering)
Demyelinating polyneuropathy
Child
Inherited polyneuropathy
Aged
Genetic testing
Blinking
medicine.diagnostic_test
Electromyography
business.industry
Nuclear Proteins
Middle Aged
030104 developmental biology
Child
Preschool
Mutation
Reflex
Regression Analysis
Female
Neurology (clinical)
Genetic diagnosis
business
Myelin P0 Protein
Neuroscience
Algorithms
Myelin Proteins
030217 neurology & neurosurgery
Transcription Factors
Zdroj: Muscle & Nerve. 55:316-322
ISSN: 0148-639X
DOI: 10.1002/mus.25250
Popis: 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 55: 316-322, 2017.
Databáze: OpenAIRE
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