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PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings

Overview of attention for article published in European Journal of Paediatric Neurology, September 2018
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Title
PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings
Published in
European Journal of Paediatric Neurology, September 2018
DOI 10.1016/j.ejpn.2018.05.005
Pubmed ID
Authors

Cyril Gitiaux, Anna Kaminska, Nathalie Boddaert, Giulia Barcia, Sophie Guéden, Sylvie Nguyen The Tich, Pascale De Lonlay, Susana Quijano-Roy, Marie Hully, Yann Péréon, Isabelle Desguerre

Abstract

Phospholipase A2 associated neurodegeneration (PLAN) is a heterogeneous autosomal recessive disorder caused by mutations in the ubiquitously expressed PLA2G6 gene. It is responsible for delayed brain iron accumulation and induces progressive psychomotor regression. We report the concomitant clinical, radiological and neurophysiological findings in PLAN patients in an attempt to determine the contribution of each test to guide diagnosis. Concomitant clinical, radiological, electroencephalographic (EEG) and electrodiagnostic testing (EDX) findings in a series of 8 consecutive genetically confirmed PLAN patients were collected. All patients presented marked motor axonal loss, with decreased or absent distal compound muscle action potentials, acute and chronic denervation at needle electromyography, in contrast with preservation of sensory conduction. EEG showed high-amplitude fast activity in all patients aged above 15 months. Two patients showing severe neonatal hypotonia displayed atypical hypsarhythmia and epileptic spasms. Iron deposition in globus pallidus was observed in only two patients aged above 6 years. Peripheral involvement is an early feature in PLAN recognizable by EDX at an earlier stage than typical iron accumulation in the brain. Furthermore, the association of West syndrome and axonal motor neuropathy may represent positive clues in favor of PLAN. This results emphasize the interest of early and repeated EDX.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 20%
Other 2 13%
Student > Master 2 13%
Student > Ph. D. Student 1 7%
Lecturer 1 7%
Other 2 13%
Unknown 4 27%
Readers by discipline Count As %
Medicine and Dentistry 4 27%
Nursing and Health Professions 1 7%
Biochemistry, Genetics and Molecular Biology 1 7%
Arts and Humanities 1 7%
Neuroscience 1 7%
Other 1 7%
Unknown 6 40%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 June 2018.
All research outputs
#11,581,874
of 13,034,624 outputs
Outputs from European Journal of Paediatric Neurology
#566
of 697 outputs
Outputs of similar age
#235,303
of 271,406 outputs
Outputs of similar age from European Journal of Paediatric Neurology
#27
of 30 outputs
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