Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). (Q38065116)

28 August 2017

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title

Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA). (English)

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neurodegeneration with brain iron accumulation

28 August 2017

main subject

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Kailash Phatechand Bhatia

object named as

Kailash P Bhatia

series ordinal

2

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author name string

Susanne A Schneider

series ordinal

1

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28 August 2017

publication date

2 December 2012

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Journal of Neural Transmission

28 August 2017

published in

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28 August 2017

volume

120

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28 August 2017

issue

4

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28 August 2017

page(s)

695-703

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

28 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Neuroferritinopathy in a French family with late onset dominant dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Neuronal ceroid-lipofuscinosis: preferential metabolic alterations in thalamus and posterior association cortex demonstrated by PET.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Accumulation of oxidative DNA damage in brain mitochondria in mouse model of hereditary ferritinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Two forms of iron as an intrinsic contrast agent in the basal ganglia of PKAN patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Iron dysregulation in movement disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Adult onset Hallervorden-Spatz disease with neurofibrillary pathology. A discrete clinicopathological entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Iron overload in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Neurodegeneration with brain iron accumulation, type 1 is characterized by alpha-, beta-, and gamma-synuclein neuropathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Neurodegeneration with brain iron accumulation: from genes to pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Extensive brain pathology in a patient with aceruloplasminemia with a prolonged duration of illness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Neuroferritinopathy: a new inborn error of iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

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/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Deep brain stimulation in dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Superficial siderosis: a case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Iron chelation and neuroprotection in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

The neurological presentation of ceruloplasmin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

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/S00702-012-0922-8

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/S00702-012-0922-8

Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Pallidal deep brain stimulation in patients with cranial-cervical dystonia (Meige syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

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/S00702-012-0922-8

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/S00702-012-0922-8

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/S00702-012-0922-8

Central nervous system dysfunction in a mouse model of FA2H deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Widespread expression of alpha-synuclein and tau immunoreactivity in Hallervorden-Spatz syndrome with protracted clinical course

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Deep brain stimulation for dystonia: patient selection and outcomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Iron in chronic brain disorders: imaging and neurotherapeutic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Measurement of brain iron distribution in Hallevorden-Spatz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

Increased iron in the dentate nucleus of patients with Friedrich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

Redox active iron accumulation in aceruloplasminemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

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/S00702-012-0922-8

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S00702-012-0922-8

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

21 January 2018

1 reference

12 December 2020

Increased lipid peroxidation in the brains of aceruloplasminemia patients

1 reference

12 December 2020

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

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

Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries

1 reference

12 December 2020

Transcranial sonography in pantothenate kinase-associated neurodegeneration

1 reference

12 December 2020

Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies

1 reference

12 December 2020

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

1 reference

12 December 2020

Familial juvenile Parkinsonism

1 reference

12 December 2020

Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias

1 reference

12 December 2020

10.1007/S00702-012-0922-8

Identifiers

DOI

1 reference

28 August 2017

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