Pathophysiology and Treatment of Neurodegeneration With Brain Iron Accumulation in the Pediatric Population

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

(2013) Susan J. Hayflick et al.   BRAIN

Clinical features of neurodegeneration with brain iron accumulation due to aC19orf12gene mutation

(2013) Jennifer G. Goldman et al.   MOVEMENT DISORDERS

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease

(2013) Hao Deng et al.   JAMA Neurology

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

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

New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

(2012) P. Hogarth et al.   NEUROLOGY

Iron Overload in Human Disease

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

Involvement of Globus Pallidus and Midbrain Nuclei in Pantothenate Kinase-Associated Neurodegeneration

(2012) R. Fermin-Delgado et al.   Clinical Neuroradiology

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

Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

(2011) M.C. Kruer et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

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

Idiopathic NBIA - clinical spectrum and transcranial sonography findings

(2011) N. Brüggemann et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

A pilot trial of deferiprone for neurodegeneration with brain iron accumulation

(2011) G. Abbruzzese et al.   HAEMATOLOGICA

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

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

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

Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial

(2011) Giovanna Zorzi et al.   MOVEMENT DISORDERS

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

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

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

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

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

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

(2010) L. Timmermann et al.   BRAIN

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

Brain iron metabolism and its perturbation in neurological diseases

(2010) Robert R. Crichton et al.   JOURNAL OF NEURAL TRANSMISSION

Iron chelation and neuroprotection in neurodegenerative diseases

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

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

(2010) Miriam Adamovicová et al.   MOVEMENT DISORDERS

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

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

Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration

(2010) A. Rana et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

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

(2009) Won Tae Yoon et al.   MOVEMENT DISORDERS

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

(2009) Wen Zhu et al.   NEUROBIOLOGY OF DISEASE

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

(2009) Adolf Pfefferbaum et al.   NEUROIMAGE

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

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

(2008) B YAO et al.   NEUROIMAGE

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

Focal hand dystonia in a patient withPANK2mutation

(2007) Sun J. Chung et al.   MOVEMENT DISORDERS

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

(2007) Andrew J. Farrall et al.   NEUROBIOLOGY OF AGING