Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). (Q41836301)

12 October 2017

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). (English)

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neurodegeneration with brain iron accumulation

12 October 2017

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Kailash Phatechand Bhatia

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Kailash P Bhatia

6

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Joseph Jankovic

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object named as

Joseph Jankovic

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12 October 2017

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John Hardy

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12 October 2017

Susanne A Schneider

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12 October 2017

Petr Dusek

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12 October 2017

Ana Westenberger

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12 October 2017

language of work or name

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1 January 2013

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Current Neuropharmacology

12 October 2017

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12 October 2017

59-79

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

12 October 2017

1 reference

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Neurodegeneration with brain iron accumulation

6 June 2018

1 reference

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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

6 June 2018

1 reference

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Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

6 June 2018

1 reference

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Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

6 June 2018

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Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

6 June 2018

1 reference

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Neuroferritinopathy: a new inborn error of iron metabolism

6 June 2018

1 reference

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Iron overload in human disease

6 June 2018

1 reference

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Iron dysregulation in movement disorders

6 June 2018

1 reference

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Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

6 June 2018

1 reference

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ATP13A2 regulates mitochondrial bioenergetics through macroautophagy

6 June 2018

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Tracking iron in multiple sclerosis: a combined imaging and histopathological study at 7 Tesla.

6 June 2018

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

6 June 2018

1 reference

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Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradation

6 June 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

6 June 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

6 June 2018

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Tetrabenazine for the treatment of chorea and other hyperkinetic movement disorders

6 June 2018

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Pathogenic implications of iron accumulation in multiple sclerosis

6 June 2018

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

6 June 2018

1 reference

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The role of lysosomes in iron metabolism and recycling

6 June 2018

1 reference

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A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

6 June 2018

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6 June 2018

1 reference

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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

6 June 2018

1 reference

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Central nervous system dysfunction in a mouse model of FA2H deficiency

6 June 2018

1 reference

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

6 June 2018

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Iron chelation and neuroprotection in neurodegenerative diseases

6 June 2018

1 reference

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Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy

6 June 2018

1 reference

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

6 June 2018

1 reference

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Sleep in genetically confirmed pantothenate kinase-associated neurodegeneration: a video-polysomnographic study

6 June 2018

1 reference

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Towards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examples

6 June 2018

1 reference

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

6 June 2018

1 reference

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Brain iron metabolism and its perturbation in neurological diseases.

6 June 2018

1 reference

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

6 June 2018

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

6 June 2018

1 reference

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Characterizing iron deposition in Parkinson's disease using susceptibility-weighted imaging: an in vivo MR study.

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases

6 June 2018

1 reference

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

6 June 2018

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

6 June 2018

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

6 June 2018

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Clinical and genetic delineation of neurodegeneration with brain iron accumulation

6 June 2018

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Oligodendrocytes and myelination: the role of iron

6 June 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

6 June 2018

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

6 June 2018

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

6 June 2018

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The neurological presentation of ceruloplasmin gene mutations

6 June 2018

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Characterization of PLA2G6 as a locus for dystonia-parkinsonism

6 June 2018

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

6 June 2018

1 reference

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

6 June 2018

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Transient hypoxia stimulates mitochondrial biogenesis in brain subcortex by a neuronal nitric oxide synthase-dependent mechanism.

6 June 2018

1 reference

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

6 June 2018

1 reference

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Aceruloplasminaemia with progressive atrophy without brain iron overload: treatment with oral chelation

6 June 2018

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

6 June 2018

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Iron in chronic brain disorders: imaging and neurotherapeutic implications

6 June 2018

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ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

6 June 2018

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Copper and iron disorders of the brain

6 June 2018

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Superficial siderosis: a case report and review of the literature

6 June 2018

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Role of HIF-1 in iron regulation: potential therapeutic strategy for neurodegenerative disorders.

6 June 2018

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Neurodegeneration with brain iron accumulation: from genes to pathogenesis

6 June 2018

1 reference

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

6 June 2018

1 reference

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Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

6 June 2018

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: new data, new questions

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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Hallervorden spatz disease: MR and pathological findings of a rare case

6 June 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

6 June 2018

1 reference

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

6 June 2018

1 reference

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

6 June 2018

1 reference

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Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.

6 June 2018

1 reference

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

6 June 2018

1 reference

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Deep brain stimulation in dystonia

6 June 2018

1 reference

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Neuroferritinopathy in a French family with late onset dominant dystonia

6 June 2018

1 reference

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Aceruloplasminemia, an inherited disorder of iron metabolism

6 June 2018

1 reference

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

6 June 2018

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Mitochondria and ceramide: intertwined roles in regulation of apoptosis

6 June 2018

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Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation

6 June 2018

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

6 June 2018

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

6 June 2018

1 reference

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Kufs-disease; a rare cause of early-onset dementia

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Hypoxia alters iron homeostasis and induces ferritin synthesis in oligodendrocytes.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

A case of Kufs disease with abnormal pallidonigral iron deposit.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

An autoradiographic study of the uptake and distribution of iron by the brain of the young rat.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Altered cellular distribution of iron in the central nervous system of myelin deficient rats.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Histochemical distribution of non-haem iron in the human brain

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Familial juvenile Parkinsonism

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Eye movement disorders in ATP13A2 mutation carriers (PARK9).

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Deep brain stimulation for dystonia: patient selection and outcomes.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Measurement of brain iron distribution in Hallevorden-Spatz syndrome.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

MR imaging findings in autosomal recessive hereditary spastic paraplegia.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Regression of symptoms after selective iron chelation therapy in a case of neurodegeneration with brain iron accumulation.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Focal hand dystonia in a patient with PANK2 mutation

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Severe tongue protrusion dystonia: clinical syndromes and possible treatment.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Off-period dystonia in Parkinson's disease but not generalized dystonia is improved by high-frequency stimulation of the subthalamic nucleus.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Deep brain stimulation in the treatment of severe dystonia.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

3 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

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

3 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Redox active iron accumulation in aceruloplasminemia

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3580793

Time-dependent changes in iron levels and associated neuronal loss within the substantia nigra following lesions within the neostriatum/globus pallidus complex

2 December 2018

1 reference

12 December 2020

Pallidal stimulation for pantothenate kinase-associated neurodegeneration dystonia

1 reference

12 December 2020

Idiopathic NBIA--clinical spectrum and transcranial sonography findings

1 reference

12 December 2020

Increased lipid peroxidation in the brains of aceruloplasminemia patients

1 reference

12 December 2020

Brain iron deposition and sequence characteristics in Parkinsonism: comparison of SWI, T₂* maps, T₂-weighted-, and FLAIR-SPACE

1 reference

12 December 2020

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

1 reference

12 December 2020

Bilateral subthalamic nucleus stimulation in the treatment of neurodegeneration with brain iron accumulation type 1

1 reference

12 December 2020

Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden-Spatz syndrome. Case report

1 reference

12 December 2020

Infantile neuroaxonal dystrophy

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

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

Motor pathway excitability in ATP13A2 mutation carriers: a transcranial magnetic stimulation study

1 reference

12 December 2020

A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM)

1 reference

12 December 2020

Hereditary spastic paraplegia associated with dopa-responsive parkinsonism

1 reference

12 December 2020

Studies of human myelin proteins during old age

1 reference

12 December 2020

Pallidal stimulation for dystonia in pantothenate kinase-associated neurodegeneration

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

10.2174/157015913804999469

Identifiers

DOI

1 reference

12 October 2017

1 reference

12 October 2017

1 reference