Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes (Q38161012)

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scientific article published on January 2013

Language	Label	Description	Also known as
English	Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes	scientific article published on January 2013

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

pantothenate kinase-associated neurodegeneration

0 references

PLA2G6-associated neurodegeneration

1 reference

based on heuristic

inferred from title

neurodegeneration

1 reference

based on heuristic

inferred from title

author name string

Manju A Kurian

1

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

Susan J Hayflick

2

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

publication date

1 January 2013

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

International Review of Neurobiology

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

110

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

49-71

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

Mouse models of human INAD by Pla2g6 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Adult onset Hallervorden-Spatz disease with psychotic symptoms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Rare causes of dystonia parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Neurodegeneration associated with genetic defects in phospholipase A(2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Long-term benefit to pallidal deep brain stimulation in a case of dystonia secondary to pantothenate kinase-associated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Hallervorden and history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Hallervorden-Spatz syndrome resembling a typical Tourette syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Iron in the Hallervorden-Spatz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Hallervorden-Spatz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Palilalia and repetitive speech: two case studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Configuration of thiols dictates their ability to promote iron-induced reactive oxygen species generation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Repetitive speech phenomena in Parkinson's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Generalized freezing in Hallervorden-Spatz syndrome: case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6059649

31 August 2018

Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24209433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN)

1 reference

https://pubmed.ncbi.nlm.nih.gov/24209433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cellular responses to excess phospholipid

1 reference

https://pubmed.ncbi.nlm.nih.gov/24209433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hallervorden-Spatz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24209433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/24209433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24209433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Copper, zinc superoxide dismutase enhances DNA damage and mutagenicity induced by cysteine/iron

1 reference

https://pubmed.ncbi.nlm.nih.gov/24209433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Eye of the tiger sign in multiple system atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24209433

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/B978-0-12-410502-7.00003-X

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

PMC publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 August 2017

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