(Q37949887)

English

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

scientific article published on 26 October 2011

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scholarly article

1 reference

Europe PubMed Central

25 August 2017

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

1 reference

Europe PubMed Central

25 August 2017

neurodegeneration with brain iron accumulation

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Kailash Phatechand Bhatia

3

object named as

Kailash P Bhatia

1 reference

Europe PubMed Central

25 August 2017

John Anthony Hardy

2

object named as

John Hardy

1 reference

Europe PubMed Central

25 August 2017

author name string

Susanne A Schneider

1

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Europe PubMed Central

25 August 2017

language of work or name

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publication date

26 October 2011

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Europe PubMed Central

25 August 2017

Movement Disorders

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Europe PubMed Central

25 August 2017

27

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Europe PubMed Central

25 August 2017

42-53

1 reference

Europe PubMed Central

25 August 2017

1

1 reference

Europe PubMed Central

25 August 2017

Friedreich's ataxia: pathology, pathogenesis, and molecular genetics

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

The neuropathology of late-onset Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Julius Hallervorden's wartime activities: implications for science under dictatorship

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Iron in chronic brain disorders: imaging and neurotherapeutic implications

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Neurodegeneration with brain iron accumulation: from genes to pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Severe tongue protrusion dystonia: clinical syndromes and possible treatment.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

A patient with pantothenate kinase-associated neurodegeneration and supranuclear gaze palsy.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Focal hand dystonia in a patient with PANK2 mutation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Measurement of brain iron distribution in Hallevorden-Spatz syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Low-frequency rTMS of the premotor cortex reduces complex movement patterns in a patient with pantothenate kinase-associated neurodegenerative disease (PKAN).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Phospholipase A(2), reactive oxygen species, and lipid peroxidation in CNS pathologies

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Lipid oxidation and peroxidation in CNS health and disease: from molecular mechanisms to therapeutic opportunities

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Eye movement disorders in ATP13A2 mutation carriers (PARK9).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

MR imaging findings in autosomal recessive hereditary spastic paraplegia.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Central nervous system dysfunction in a mouse model of FA2H deficiency

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

The neurological presentation of ceruloplasmin gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Neuroferritinopathy in a French family with late onset dominant dystonia

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Superficial siderosis: a case report and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Eye of the tiger-like MRI in parkinsonian variant of multiple system atrophy

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Proton magnetic resonance spectroscopy in Steele-Richardson-Olszewski syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

The eye of the tiger sign in cortical-basal ganglionic degeneration.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Frontotemporal dementia-amyotrophic lateral sclerosis complex is simulated by neurodegeneration with brain iron accumulation.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Signal changes on MRI and increases in reactive microgliosis, astrogliosis, and iron in the putamen of two patients with multiple system atrophy

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https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Mitochondria and ceramide: intertwined roles in regulation of apoptosis

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 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://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Copper and iron disorders of the brain

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

1 reference

https://api.crossref.org/works/10.1002%2FMDS.23971

21 January 2018

Identifiers

10.1002/MDS.23971

1 reference

Europe PubMed Central

25 August 2017

1 reference

Europe PubMed Central

25 August 2017

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