(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

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

21 January 2018

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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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Iron dysregulation in movement disorders

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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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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Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Superficial siderosis: a case report and review of the literature

21 January 2018

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Iron chelation and neuroprotection in neurodegenerative diseases

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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The neurological presentation of ceruloplasmin gene mutations

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia

21 January 2018

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21 January 2018

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

21 January 2018

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Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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Central nervous system dysfunction in a mouse model of FA2H deficiency

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

21 January 2018

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

21 January 2018

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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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Deep brain stimulation for dystonia: patient selection and outcomes

21 January 2018

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Iron in chronic brain disorders: imaging and neurotherapeutic implications

21 January 2018

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Measurement of brain iron distribution in Hallevorden-Spatz syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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Redox active iron accumulation in aceruloplasminemia

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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12 December 2020

Increased lipid peroxidation in the brains of aceruloplasminemia patients

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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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

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12 December 2020

Transcranial sonography in pantothenate kinase-associated neurodegeneration

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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

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12 December 2020

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

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12 December 2020

Familial juvenile Parkinsonism

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12 December 2020

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

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12 December 2020

10.1007/S00702-012-0922-8

Identifiers

DOI

1 reference

28 August 2017

1 reference