PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

(2018) Liena E. O. Elsayed et al.   BMC Medical Genetics

Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain

(2018) Guang Lin et al.   Cell Metabolism

PLA2G6 -associated neurodegeneration: Lessons from neurophysiological findings

(2018) Cyril Gitiaux et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways

(2018) Elena Sánchez et al.   MOLECULAR NEUROBIOLOGY

Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration

(2018) Yi-Jun Chen et al.   PARKINSONISM & RELATED DISORDERS

Oculogyric crises in PLA2G6 associated neurodegeneration

(2018) Mohammad Rohani et al.   PARKINSONISM & RELATED DISORDERS

Structural and Aggregation Properties of Alpha-Synuclein Linked to Phospholipase A2 Action

(2018) Kerensa Broersen et al.   PROTEIN AND PEPTIDE LETTERS

Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report

(2018) Baotian Wang et al.   Experimental and Therapeutic Medicine

The structure of iPLA2β reveals dimeric active sites and suggests mechanisms of regulation and localization

(2018) Konstantin R. Malley et al.   Nature Communications

Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration

(2018) Konstantin G. Iliadi et al.   Scientific Reports

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

(2018) Rosangela Ferese et al.   Frontiers in Neurology

PLA2G6-related parkinsonism presenting as adolescent behavior

(2018) Walaa Ahmed Kamel et al.   ACTA NEUROLOGICA BELGICA

Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson’s disease

(2018) Ting Shen et al.   Scientific Reports

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

(2018) Alejandra Darling et al.   PARKINSONISM & RELATED DISORDERS

A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy

(2017) Iannello Grazia et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca 2+ signaling

(2017) Mikhail Strokin et al.   NEUROCHEMISTRY INTERNATIONAL

Expanded phenotype and hippocampal involvement in a novel compound heterozygosity of adult PLA2G6 associated neurodegeneration (PARK14)

(2017) Joan Philipp Michelis et al.   PARKINSONISM & RELATED DISORDERS

Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6 -related juvenile Parkinson's disease

(2017) T. Wirth et al.   PARKINSONISM & RELATED DISORDERS

Docosahexaenoic acid (DHA): An essential nutrient and a nutraceutical for brain health and diseases

(2017) Grace Y. Sun et al.   PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS

Oligomeric amyloid-beta induces MAPK-mediated activation of brain cytosolic and calcium-independent phospholipase A2 in a spatial-specific manner

(2017) Juan Pablo Palavicini et al.   Acta Neuropathologica Communications

Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism

(2016) Chikara Yamashita et al.   JOURNAL OF NEURAL TRANSMISSION

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging

(2016) Sen Guo et al.   MOLECULAR NEUROBIOLOGY

PLA2G6mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology

(2016) Christine Klein et al.   MOVEMENT DISORDERS

Child Neurology: Two sisters with dystonia and regression

(2016) Robert B. Blake et al.   NEUROLOGY

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis

(2016) A. Al-Maawali et al.   NEURORADIOLOGY

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

(2016) Saketh Kapoor et al.   PLoS One

Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review

(2016) Haifeng Li et al.   Experimental and Therapeutic Medicine

Loss ofPLA2G6leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction

(2015) Kerri J. Kinghorn et al.   BRAIN

Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases

(2015) Manar Aoun et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

(2015) Mariska Davids et al.   JOURNAL OF MEDICAL GENETICS

Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: Further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration

(2015) Fei Xie et al.   PARKINSONISM & RELATED DISORDERS

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism

(2015) M.C. Malaguti et al.   PARKINSONISM & RELATED DISORDERS

Ophthalmic features ofPLA2G6-related paediatric neurodegeneration with brain iron accumulation

(2014) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing

(2014) Manisha Goyal et al.   INDIAN JOURNAL OF PEDIATRICS

PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

(2014) M.A. Illingworth et al.   MOLECULAR GENETICS AND METABOLISM

Recessive truncatingNALCNmutation in infantile neuroaxonal dystrophy with facial dysmorphism

(2013) Çiğdem Köroğlu et al.   JOURNAL OF MEDICAL GENETICS

Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia

(2013) Tuhin Virmani et al.   PARKINSONISM & RELATED DISORDERS

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

(2013) Mustafa A. Salih et al.   PLoS One

Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

(2013) Yuichi Riku et al.   Acta Neuropathologica Communications

Follow-up study of 25 Chinese children withPLA2G6-associated neurodegeneration

(2012) P. Zhang et al.   EUROPEAN JOURNAL OF NEUROLOGY

Imaging striatal dopaminergic function inPhospholipase A2 Group VI-related parkinsonism

(2012) Pankaj Agarwal et al.   MOVEMENT DISORDERS

Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population

(2012) Jin-yong Tian et al.   NEUROSCIENCE LETTERS

Association between PLA2G6 gene polymorphisms and Parkinson's disease in the Chinese Han population

(2012) Zhanyun Lv et al.   PARKINSONISM & RELATED DISORDERS

Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease

(2012) Ya-Xing Gui et al.   PARKINSONISM & RELATED DISORDERS

DHA supplementation: Current implications in pregnancy and childhood

(2012) Lynette K. Rogers et al.   PHARMACOLOGICAL RESEARCH

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease

(2011) Chin-Song Lu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Phospholipase A2 superfamily members play divergent roles after spinal cord injury

(2011) Rubèn López-Vales et al.   FASEB JOURNAL

PLA2G6 variant in Parkinson's disease

(2011) Hiroyuki Tomiyama et al.   JOURNAL OF HUMAN GENETICS

The PLA2G6 gene in early-onset Parkinson's disease

(2011) Kai Michael Kauther et al.   MOVEMENT DISORDERS

Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations

(2011) Susanne A. Schneider et al.   MOVEMENT DISORDERS

PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort

(2011) C.- h. Shi et al.   NEUROLOGY

Novel splice-site mutations and a large intragenic deletion inPLA2G6associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy

(2010) A Tonelli et al.   CLINICAL GENETICS

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis

(2010) Danielle Crompton et al.   MOLECULAR GENETICS AND METABOLISM

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

(2010) Coro Paisán-Ruiz et al.   NEUROBIOLOGY OF AGING

Molecular Inflammatory Mediators in Peripheral Nerve Degeneration and Regeneration

(2010) Carlos Rodrigo Cámara-Lemarroy et al.   NEUROIMMUNOMODULATION

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

(2010) H. Yoshino et al.   NEUROLOGY

Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-Parkinsonism

(2010) Laura A. Engel et al.   PLoS One

PLA2G6mutations and Parkinson's disease

(2009) E. K. Tan et al.   ANNALS OF NEUROLOGY

Lipid Oxidation and Peroxidation in CNS Health and Disease: From Molecular Mechanisms to Therapeutic Opportunities

(2009) Rao Muralikrishna Adibhatla et al.   ANTIOXIDANTS & REDOX SIGNALING

NEURODEGENERATION ASSOCIATED WITH GENETIC DEFECTS IN PHOSPHOLIPASE A2

(2009) M. Sadeh   NEUROLOGY

Disrupted Membrane Homeostasis and Accumulation of Ubiquitinated Proteins in a Mouse Model of Infantile Neuroaxonal Dystrophy Caused by PLA2G6 Mutations

(2008) Ibrahim Malik et al.   AMERICAN JOURNAL OF PATHOLOGY

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

Role of Ca2+-independent phospholipase A2 in cell growth and signaling

(2008) Shelley B. Hooks et al.   BIOCHEMICAL PHARMACOLOGY

Clinical study andPLA2G6mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy

(2008) Y. Wu et al.   EUROPEAN JOURNAL OF NEUROLOGY

R632W mutation inPLA2G6segregates with dystonia-parkinsonism in a consanguineous Iranian family

(2008) F. Sina et al.   EUROPEAN JOURNAL OF NEUROLOGY

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)

(2008) M. A. Kurian et al.   NEUROLOGY