NEFL E396K mutation is associated with a novel dominant intermediate Charcot–Marie–Tooth disease phenotype
Autor: | Ana L. Pelayo-Negro, Jon Infante, José Berciano, Albena Jordanova, Elena Gallardo, Antonio G. García, K. Peeters, Els De Vriendt |
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Rok vydání: | 2015 |
Předmět: |
Adult
Male medicine.medical_specialty Pes cavus Spastic gait Neurology Glutamine DNA Mutational Analysis Neural Conduction Action Potentials Atrophy Charcot-Marie-Tooth Disease Neurofilament Proteins medicine Humans Corneal reflex Evoked potential Creatine Kinase Evoked Potentials Family Health biology Lysine Gluteus minimus Anatomy Middle Aged medicine.disease biology.organism_classification Magnetic Resonance Imaging Electrophysiology body regions Somatosensory evoked potential Mutation Female Human medicine Neurology (clinical) Tomography X-Ray Computed Psychology Follow-Up Studies |
Zdroj: | Journal of neurology |
ISSN: | 1432-1459 0340-5354 |
Popis: | The purpose of the study was to describe a pedigree with NEFL E396K mutation associated with a novel dominant intermediate Charcot-Marie-Tooth disease (DI-CMT) phenotype. The pedigree comprised four patients over two generations, aged between 35 and 59 years, who have been serially evaluated since 1993. Their clinical picture was characterized by pes cavus, sensorimotor neuropathy and spastic gait. Both older patients showed ascending leg weakness to involve pelvic musculature. CMT neuropathy score ranged from 14 to 26 (moderate to severe disease). Electrophysiology showed uniform nerve conduction slowing in the intermediate range, both in distal and proximal nerve segments. Multimodal evoked potential and blink reflex studies revealed abnormalities indicative of central sensorimotor pathway dysfunction. On imaging studies of lower-limb musculature, there was massive atrophy of intrinsic foot muscles and to a lesser degree of calves and thighs predominating in muscles innervated by tibial and sciatic nerves. In both patients exhibiting waddling gait, there was atrophy of pelvic muscles mainly involving gluteus medius, gluteus minimus and piriformis. We conclude that NEFL E396K mutation may manifest with a novel DI-CMT phenotype, characterized by simultaneous involvement of the peripheral and central nervous system. |
Databáze: | OpenAIRE |
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