Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population (Q38124286)

29 August 2017

Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population (English)

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neurodegeneration with brain iron accumulation

29 August 2017

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Susanne A Schneider

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29 August 2017

Giovanna Zorzi

series ordinal

2

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29 August 2017

Nardo Nardocci

series ordinal

3

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29 August 2017

language of work or name

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1 October 2013

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Current treatment options in neurology

29 August 2017

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29 August 2017

15

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29 August 2017

5

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29 August 2017

652-667

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https://scigraph.springernature.com/pub.10.1007/s11940-013-0254-5

29 August 2017

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cites work

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

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Iron in chronic brain disorders: imaging and neurotherapeutic implications

21 January 2018

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

21 January 2018

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Neurodegeneration with brain iron accumulation: from genes to pathogenesis

21 January 2018

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Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration

21 January 2018

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Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms

21 January 2018

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Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor

21 January 2018

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Focal hand dystonia in a patient with PANK2 mutation

21 January 2018

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

21 January 2018

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Involvement of globus pallidus and midbrain nuclei in pantothenate kinase-associated neurodegeneration: measurement of T2 and T2* time

21 January 2018

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Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome.

21 January 2018

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

21 January 2018

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Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation.

21 January 2018

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Diffusion tensor MR imaging in children with pantothenate kinase-associated neurodegeneration with brain iron accumulation and their siblings

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

MR relaxometry and 1H MR spectroscopy for the determination of iron and metabolite concentrations in PKAN patients

21 January 2018

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[123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA).

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

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Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

F-box only protein 7 gene in parkinsonian-pyramidal disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Central nervous system dysfunction in a mouse model of FA2H deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

The neurological presentation of ceruloplasmin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Neuroferritinopathy in a French family with late onset dominant dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Iron dysregulation in movement disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Brain iron metabolism and its perturbation in neurological diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Iron overload in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Developmental changes in transferrin and iron uptake by the brain in the rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Iron, neuromelanin and ferritin content in the substantia nigra of normal subjects at different ages: consequences for iron storage and neurodegenerative processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Cellular distribution of transferrin, ferritin, and iron in normal and aged human brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

High-field magnetic resonance imaging of brain iron: birth of a biomarker?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

The effect of age on the non-haemin iron in the human brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Susceptibility contrast in high field MRI of human brain as a function of tissue iron content

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

MRI estimates of brain iron concentration in normal aging: comparison of field-dependent (FDRI) and phase (SWI) methods.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Blood-brain barrier: ageing and microvascular disease--systematic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Ceramide-induced intracellular oxidant formation, iron signaling, and apoptosis in endothelial cells: protective role of endogenous nitric oxide

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Staged bilateral stereotactic pallidothalamotomy for life-threatening dystonia in a child with Hallervorden-Spatz disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Status dystonicus and Hallervorden-Spatz disease: treatment with intrathecal baclofen and pallidotomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Measurement of brain iron distribution in Hallevorden-Spatz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Pallidal stimulation in siblings with pantothenate kinase-associated neurodegeneration: four-year follow-up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Iron chelation and neuroprotection in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Genetic iron chelation protects against proteasome inhibition-induced dopamine neuron degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Neuroimaging features of neurodegeneration with brain iron accumulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11940-013-0254-5

Idiopathic NBIA--clinical spectrum and transcranial sonography findings

21 January 2018

1 reference

12 December 2020

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

1 reference

12 December 2020

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

1 reference

12 December 2020

[Hallervorden-Spatz disease: findings in the nigrostriatal system]

1 reference

12 December 2020

Blood vessels change in the mesencephalon of patients with Parkinson's disease.

1 reference

12 December 2020

Transcranial sonography in pantothenate kinase-associated neurodegeneration

1 reference

12 December 2020

A case of Hallervorden-Spatz disease: progressive and intractable dystonia controlled by bilateral thalamotomy

1 reference

12 December 2020

Histochemical distribution of non-haem iron in the human brain

1 reference

12 December 2020

Stereotactic pallidotomy in a child with Hallervorden-Spatz disease. Case report

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S11940-013-0254-5

Identifiers

DOI

1 reference

29 August 2017

1 reference