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Neurodegeneration with brain iron accumulation: diagnosis and management
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review article
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Europe PubMed Central
title
Neurodegeneration with brain iron accumulation: diagnosis and management
(English)
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PubMed
main subject
brain
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neurodegeneration with brain iron accumulation
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author name string
Penelope Hogarth
series ordinal
1
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Crossref
language of work or name
English
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publication date
January 2015
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published in
Journal of movement disorders
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PubMed
volume
8
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PubMed
issue
1
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PubMed
page(s)
1-13
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PubMed
cites work
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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
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C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
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Eye-of-the-Tiger sign is not Pathognomonic of Pantothenate Kinase-Associated Neurodegeneration in Adult Cases
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Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
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Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
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Docosahexaenoic acid (DHA) incorporation into the brain from plasma, as an in vivo biomarker of brain DHA metabolism and neurotransmission
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Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial
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29 September 2017
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration
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29 September 2017
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
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Imaging decreased brain docosahexaenoic acid metabolism and signaling in iPLA(2)β (VIA)-deficient mice
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PubMed Central
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29 September 2017
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations
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29 September 2017
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
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Fatty acid 2-hydroxylase regulates cAMP-induced cell cycle exit in D6P2T schwannoma cells
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Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia
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29 September 2017
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29 September 2017
Characterization of PLA2G6 as a locus for dystonia-parkinsonism
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PubMed Central
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29 September 2017
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.
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29 September 2017
Three siblings with Woodhouse-Sakati syndrome in an Indian family
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29 September 2017
Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration
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29 September 2017
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
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PubMed Central
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29 September 2017
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)
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29 September 2017
Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.
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29 September 2017
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
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29 September 2017
Hallervorden and history
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PubMed Central
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29 September 2017
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
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29 September 2017
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
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29 September 2017
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration
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2 June 2018
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2 June 2018
Aceruloplasminemia, an inherited disorder of iron metabolism
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2 June 2018
Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.
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27 November 2018
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation
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PubMed Central
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27 November 2018
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation
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PubMed Central
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27 November 2018
Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration
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PubMed Central
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27 November 2018
MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).
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PubMed Central
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27 November 2018
Declining use of the Hallervorden-Spatz disease eponym in the last two decades.
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PubMed Central
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27 November 2018
Missense PANK2 mutation without "eye of the tiger" sign: MR findings in a large group of patients with pantothenate kinase-associated neurodegeneration (PKAN).
1 reference
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27 November 2018
As iron goes, so goes disease?
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298713
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27 November 2018
The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298713
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27 November 2018
Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation.
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27 November 2018
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4298713
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27 November 2018
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
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PubMed Central
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27 November 2018
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
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27 November 2018
Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
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27 November 2018
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27 November 2018
Status dystonicus: Predictors of outcome and progression patterns of underlying disease
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12 December 2020
based on heuristic
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Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
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12 December 2020
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Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation
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https://pubmed.ncbi.nlm.nih.gov/25614780
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12 December 2020
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A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy
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https://pubmed.ncbi.nlm.nih.gov/25614780
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Eye of the tiger sign in multiple system atrophy
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25614780
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/25614780
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12 December 2020
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Identifiers
DOI
10.14802/JMD.14034
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1368769
OpenCitations bibliographic resource ID
1368769
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1368769
PMCID
4298713
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1368769
PubMed ID
25614780
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1368769
ResearchGate publication ID
271220843
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