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

Lysosomal dysfunction in Parkinson disease

(2012) Benjamin Dehay et al.   Autophagy

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

(2012) Monika Dezortova et al.   Contrast Media & Molecular Imaging

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novelFA2Hmutation

(2012) A. Tonelli et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2012) Marija Usenovic et al.   HUMAN MOLECULAR GENETICS

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

(2012) A. Campanella et al.   HUMAN MOLECULAR GENETICS

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

(2012) Dario Brunetti et al.   HUMAN MOLECULAR GENETICS

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

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

(2012) M. Deschauer et al.   JOURNAL OF NEUROLOGY

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

(2012) Rita Horvath et al.   MOVEMENT DISORDERS

Iron dysregulation in movement disorders

(2012) Petr Dusek et al.   NEUROBIOLOGY OF DISEASE

Neuroferritinopathy: a new inborn error of iron metabolism

(2012) Michael J. Keogh et al.   NEUROGENETICS

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

(2012) Michael C. Kruer et al.   NEUROSCIENCE LETTERS

Iron Overload in Human Disease

(2012) Robert E. Fleming et al.   NEW ENGLAND JOURNAL OF MEDICINE

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

(2011) Monika B. Hartig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

(2011) Hélène Catoire et al.   ANNALS OF NEUROLOGY

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

(2011) M. C. Kruer et al.   BRAIN

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

(2011) CATERINA GARONE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2011) Tyler Mark Pierson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA)

(2011) Jan Liman et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Central nervous system dysfunction in a mouse model of Fa2h deficiency

(2011) Kathleen A. Potter et al.   GLIA

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

(2011) Jin-Sung Park et al.   HUMAN MUTATION

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

(2011) Kazuma Kaneko et al.   HUMAN PATHOLOGY

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

(2011) Chloe Miu Mak et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

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

(2011) Rafael Fermin Delgado et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

Transcranial sonography in pantothenate kinase-associated neurodegeneration

(2011) Vladimir S. Kostić et al.   JOURNAL OF NEUROLOGY

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

(2011) Phyllis Dan et al.   Lipids in Health and Disease

ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation

(2011) Hsin Fen Chien et al.   MOVEMENT DISORDERS

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

(2011) Francisco Grandas et al.   MOVEMENT DISORDERS

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

(2011) Susanne A. Schneider et al.   MOVEMENT DISORDERS

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

(2011) Fabiana H.G. Farias et al.   NEUROBIOLOGY OF DISEASE

The “Eye-of-the-Tiger” Sign may be Absent in the Early Stages of Classic Pantothenate Kinase Associated Neurodegeneration

(2011) L. Chiapparini et al.   NEUROPEDIATRICS

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

(2011) Anne Wöhlke et al.   PLoS Genetics

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

(2010) A. S. Al-Din et al.   ACTA NEUROLOGICA SCANDINAVICA

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

(2010) Susanne A. Schneider et al.   ANNALS OF NEUROLOGY

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

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Recessively Inherited Parkinsonism

(2010) Norbert Brüggemann et al.   ARCHIVES OF NEUROLOGY

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

(2010) L. Timmermann et al.   BRAIN

Deep brain stimulation for dystonia: patient selection and outcomes

(2010) J. D. Speelman et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2010) Katherine J. Dick et al.   HUMAN MUTATION

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

(2010) Joo-Hyun Seo et al.   Journal of Clinical Neurology

Measurement of brain iron distribution in Hallevorden-Spatz syndrome

(2010) Jerzy Szumowski et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

Iron chelation and neuroprotection in neurodegenerative diseases

(2010) Xuping Li et al.   JOURNAL OF NEURAL TRANSMISSION

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

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

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

(2010) Maria I. Behrens et al.   MOVEMENT DISORDERS

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

(2010) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Indian-subcontinent NBIA: Unusual phenotypes, novelPANK2mutations, and undetermined genetic forms

(2010) Annu Aggarwal et al.   MOVEMENT DISORDERS

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

(2010) William G. Ondo et al.   MOVEMENT DISORDERS

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

(2010) Coro Paisán-Ruiz et al.   NEUROBIOLOGY OF AGING

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

(2010) Xiaoling Deng et al.   NEUROSCIENCE LETTERS

Diffusion Tensor MR Imaging in Children with Pantothenate Kinase−Associated Neurodegeneration with Brain Iron Accumulation and Their Siblings

(2009) R. Awasthi et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

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

(2009) Ana G. Barbeito et al.   JOURNAL OF NEUROCHEMISTRY

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

(2009) S A Schneider et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and 99mTc-ECD brain perfusion SPECT findings

(2009) Hiroshi Doi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2009) Akatsuki Kubota et al.   MOVEMENT DISORDERS

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

(2009) Wen Zhu et al.   NEUROBIOLOGY OF DISEASE

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disrupted Membrane Homeostasis and Accumulation of Ubiquitinated Proteins in a Mouse Model of Infantile Neuroaxonal Dystrophy Caused by PLA2G6 Mutations

(2008) Ibrahim Malik et al.   AMERICAN JOURNAL OF PATHOLOGY

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

(2008) Coro Paisan-Ruiz et al.   ANNALS OF NEUROLOGY

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

(2008) D. Devos et al.   BRAIN

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

(2008) Mohamad A. Mikati et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The Neurological Presentation of Ceruloplasmin Gene Mutations

(2008) Alisdair McNeill et al.   EUROPEAN NEUROLOGY

Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration

(2008) I. Zoller et al.   JOURNAL OF NEUROSCIENCE

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

(2008) A. McNeill et al.   NEUROLOGY

Neurodegeneration associated with genetic defects in phospholipase A2

(2008) A. Gregory et al.   NEUROLOGY

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

(2008) M. A. Kurian et al.   NEUROLOGY

Redox active iron accumulation in aceruloplasminemia

(2008) Luis F. Gonzalez-Cuyar et al.   NEUROPATHOLOGY