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PLA2G6-associated neurodegeneration in four different populations-case series and literature review.
Hanna Al-Shaikh R, Milanowski LM, Holla VV, Kurihara K, Yadav R, Kamble N, Muthusamy B, Bellad A, Koziorowski D, Szlufik S, Hoffman-Zacharska D, Fujioka S, Tsuboi Y, Ross OA, Wierenga K, Uitti RJ, Wszolek Z, Pal PK. Hanna Al-Shaikh R, et al. Parkinsonism Relat Disord. 2022 Aug;101:66-74. doi: 10.1016/j.parkreldis.2022.06.016. Epub 2022 Jun 30. Parkinsonism Relat Disord. 2022. PMID: 35803092 Review.
BACKGROUND: PLA2G6-Associated Neurodegeneration, PLAN, is subdivided into: Infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, and adult-onset dystonia parkinsonism [1]. ...
BACKGROUND: PLA2G6-Associated Neurodegeneration, PLAN, is subdivided into: Infantile neuroaxonal dystrophy, atypical ne …
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.
Iodice A, Spagnoli C, Salerno GG, Frattini D, Bertani G, Bergonzini P, Pisani F, Fusco C. Iodice A, et al. Brain Dev. 2017 Feb;39(2):93-100. doi: 10.1016/j.braindev.2016.08.012. Epub 2016 Nov 21. Brain Dev. 2017. PMID: 27884548 Review.
Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parki …
Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated …
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR. Dehnavi AZ, et al. Orphanet J Rare Dis. 2023 Jul 5;18(1):177. doi: 10.1186/s13023-023-02780-9. Orphanet J Rare Dis. 2023. PMID: 37403138 Free PMC article.
The role of the PLA2G6 gene in neurodegenerative diseases.
Deng X, Yuan L, Jankovic J, Deng H. Deng X, et al. Ageing Res Rev. 2023 Aug;89:101957. doi: 10.1016/j.arr.2023.101957. Epub 2023 May 24. Ageing Res Rev. 2023. PMID: 37236368 Review.
PLA2G6-associated neurodegeneration (PLAN) represents a continuum of clinically and genetically heterogeneous neurodegenerative disorders with overlapping features. ...
PLA2G6-associated neurodegeneration (PLAN) represents a continuum of clinically and genetically heterogeneous neurodege …
Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.
Kurian MA, Hayflick SJ. Kurian MA, et al. Int Rev Neurobiol. 2013;110:49-71. doi: 10.1016/B978-0-12-410502-7.00003-X. Int Rev Neurobiol. 2013. PMID: 24209433 Free PMC article. Review.
A number of childhood NBIA syndromes are described, of which two of the major subtypes are pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN). PKAN and PLAN are autosomal recessive NBIA disorders due to muta …
A number of childhood NBIA syndromes are described, of which two of the major subtypes are pantothenate kinase-associated neurodegeneration …
Vitamin E prevents lipid peroxidation and iron accumulation in PLA2G6-Associated Neurodegeneration.
Villalón-García I, Álvarez-Córdoba M, Povea-Cabello S, Talaverón-Rey M, Villanueva-Paz M, Luzón-Hidalgo R, Suárez-Rivero JM, Suárez-Carrillo A, Munuera-Cabeza M, Salas JJ, Falcón-Moya R, Rodríguez-Moreno A, Armengol JA, Sánchez-Alcázar JA. Villalón-García I, et al. Neurobiol Dis. 2022 Apr;165:105649. doi: 10.1016/j.nbd.2022.105649. Epub 2022 Feb 2. Neurobiol Dis. 2022. PMID: 35122944 Free article.
BACKGROUND: PLA2G6-Associated Neurodegeneration (PLAN) is a rare neurodegenerative disease with autosomal recessive inheritance, which belongs to the NBIA (Neurodegeneration with Brain Iron Accumulation) group. ...
BACKGROUND: PLA2G6-Associated Neurodegeneration (PLAN) is a rare neurodegenerative disease with autosomal recessive inh …
Neuroaxonal dystrophy in PLA2G6 knockout mice.
Sumi-Akamaru H, Beck G, Kato S, Mochizuki H. Sumi-Akamaru H, et al. Neuropathology. 2015 Jun;35(3):289-302. doi: 10.1111/neup.12202. Epub 2015 May 6. Neuropathology. 2015. PMID: 25950622 Review.
In the nervous system, iPLA2 beta is essential for remodeling membrane phospholipids in axons and synapses. Mutated PLA2G6 causes PLA2G6-associated neurodegeneration (PLAN) including infantile neuroaxonal dystrophy (INAD) and adult-onset dystonia-parkinsonism …
In the nervous system, iPLA2 beta is essential for remodeling membrane phospholipids in axons and synapses. Mutated PLA2G6 causes PLA2G6 …
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B. Darling A, et al. Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 30340910
INTRODUCTION: PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features. ...
INTRODUCTION: PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping cli …
PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.
Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I. Gitiaux C, et al. Eur J Paediatr Neurol. 2018 Sep;22(5):854-861. doi: 10.1016/j.ejpn.2018.05.005. Epub 2018 May 22. Eur J Paediatr Neurol. 2018. PMID: 29859652
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N. Romani M, et al. Eur J Neurol. 2015 Jan;22(1):178-86. doi: 10.1111/ene.12552. Epub 2014 Aug 27. Eur J Neurol. 2015. PMID: 25164370
BACKGROUND AND PURPOSE: Mutations in the PLA2G6 gene are causative of PLA2G6-associated neurodegeneration (PLAN), a spectrum of neurodegenerative conditions including infantile, childhood and adult onset forms. ...
BACKGROUND AND PURPOSE: Mutations in the PLA2G6 gene are causative of PLA2G6-associated neurodegeneration (PLAN), a spe …
41 results