Neurodegeneration with Brain Iron Accumulation

Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series

(2015) L. H. P. Vroegindeweij et al.   DIABETIC MEDICINE

Extracellular 4′-phosphopantetheine is a source for intracellular coenzyme A synthesis

(2015) Balaji Srinivasan et al.   Nature Chemical Biology

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

(2015) Paolo Santambrogio et al.   NEUROBIOLOGY OF DISEASE

Cortical pencil lining in neuroferritinopathy: A diagnostic clue

(2015) A. Batla et al.   NEUROLOGY

Changes of cerebral white matter in patients suffering from Pantothenate Kinase-Associated Neurodegeneration (PKAN): A diffusion tensor imaging (DTI) study

(2015) P. Stoeter et al.   PARKINSONISM & RELATED DISORDERS

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation

(2015) Monica Gagliardi et al.   PARKINSONISM & RELATED DISORDERS

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis

(2014) Lázaro L. F. Amaral et al.   JOURNAL OF NEUROIMAGING

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation

(2014) Katsuya Nishida et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Grey matter alterations in patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN)

(2014) Rea Rodriguez-Raecke et al.   PARKINSONISM & RELATED DISORDERS

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

(2013) Sabrina Dusi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Susan J. Hayflick et al.   BRAIN

The pallidopyramidal syndromes

(2013) Eleanna Kara et al.   CURRENT OPINION IN NEUROLOGY

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

(2013) Susanne A. Schneider et al.   Current Treatment Options in Neurology

C19orf12 mutation leads to a pallido-pyramidal syndrome

(2013) Michael C. Kruer et al.   GENE

Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation

(2013) Taiji Tsunemi et al.   HUMAN MOLECULAR GENETICS

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation inC19orf12

(2013) Guida Landouré et al.   HUMAN MUTATION

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review

(2013) Li Cao et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Idiopathic Basal Ganglia Calcifications: An Atypical Presentation of PKAN

(2013) Yvonne W. Wu et al.   PEDIATRIC NEUROLOGY

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

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Novel Mutations in FA2H-Associated Neurodegeneration

(2012) Rosemarie Rupps et al.   JOURNAL OF CHILD NEUROLOGY

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

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

Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation

(2012) Eva C. Schulte et al.   MOVEMENT DISORDERS

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

(2012) Rita Horvath et al.   MOVEMENT DISORDERS

PANK2andC19orf12mutations are common causes of neurodegeneration with brain iron accumulation

(2012) Mitra Ansari Dezfouli et al.   MOVEMENT DISORDERS

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

(2012) P. Hogarth et al.   NEUROLOGY

An international registry for neurodegeneration with brain iron accumulation

(2012) Bernadette Kalman et al.   Orphanet Journal of Rare Diseases

Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

(2012) Agata Podhajska et al.   PLoS One

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

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

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

(2012) Celeste Panteghini et al.   Seminars in Pediatric Neurology

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

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

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

(2011) Francisco Grandas 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

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

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

(2010) Douglas B. Kell   ARCHIVES OF TOXICOLOGY

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

(2010) Jiuquan Zhang et al.   BRAIN RESEARCH

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

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

Brain Iron Deposition and Sequence Characteristics in Parkinsonism

(2010) Maija Rossi et al.   INVESTIGATIVE RADIOLOGY

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

Iron chelation and neuroprotection in neurodegenerative diseases

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

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

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

Frontotemporal Dementia-amyotrophic Lateral Sclerosis Complex is Simulated by Neurodegeneration With Brain Iron Accumulation

(2009) Alexander Frizell Santillo et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

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

(2009) Ming-Hong Chang et al.   JOURNAL OF NEURAL TRANSMISSION

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

(2009) Won Tae Yoon et al.   MOVEMENT DISORDERS

Complicated recessive dystonia parkinsonism syndromes

(2009) Susanne A. Schneider 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

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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

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

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

(2008) A. McNeill 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