Two unusual cases of PLA2G6-associated neurodegeneration from India

Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been...

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Autores principales: Kulkarni, Shilpa D., Garg, Meenal, Sayed, Rafat, Patil, Varsha A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782527/
https://www.ncbi.nlm.nih.gov/pubmed/27011642
http://dx.doi.org/10.4103/0972-2327.168641
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author Kulkarni, Shilpa D.
Garg, Meenal
Sayed, Rafat
Patil, Varsha A.
author_facet Kulkarni, Shilpa D.
Garg, Meenal
Sayed, Rafat
Patil, Varsha A.
author_sort Kulkarni, Shilpa D.
collection PubMed
description Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically confirmed patients seen at a tertiary care pediatric hospital. Both these patients presented with infantile onset of neuroregression. We believe that INAD is underrecognized and underreported from India.
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spelling pubmed-47825272016-03-23 Two unusual cases of PLA2G6-associated neurodegeneration from India Kulkarni, Shilpa D. Garg, Meenal Sayed, Rafat Patil, Varsha A. Ann Indian Acad Neurol Short Communication Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically confirmed patients seen at a tertiary care pediatric hospital. Both these patients presented with infantile onset of neuroregression. We believe that INAD is underrecognized and underreported from India. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4782527/ /pubmed/27011642 http://dx.doi.org/10.4103/0972-2327.168641 Text en Copyright: © 2016 Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Short Communication
Kulkarni, Shilpa D.
Garg, Meenal
Sayed, Rafat
Patil, Varsha A.
Two unusual cases of PLA2G6-associated neurodegeneration from India
title Two unusual cases of PLA2G6-associated neurodegeneration from India
title_full Two unusual cases of PLA2G6-associated neurodegeneration from India
title_fullStr Two unusual cases of PLA2G6-associated neurodegeneration from India
title_full_unstemmed Two unusual cases of PLA2G6-associated neurodegeneration from India
title_short Two unusual cases of PLA2G6-associated neurodegeneration from India
title_sort two unusual cases of pla2g6-associated neurodegeneration from india
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782527/
https://www.ncbi.nlm.nih.gov/pubmed/27011642
http://dx.doi.org/10.4103/0972-2327.168641
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