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

Phospholipase A2, reactive oxygen species, and lipid peroxidation in CNS pathologies

(2011) Rao Muralikrishna Adibhatla et al.   BMB Reports

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

(2011) M. C. Kruer et al.   BRAIN

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

(2011) H Eiberg et al.   CLINICAL GENETICS

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

Idiopathic NBIA - clinical spectrum and transcranial sonography findings

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

Central nervous system dysfunction in a mouse model of Fa2h deficiency

(2011) Kathleen A. Potter et al.   GLIA

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

(2011) Arnulf H. Koeppen   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

The Neuropathology of Late-Onset Friedreich’s Ataxia

(2010) Arnulf H. Koeppen et al.   CEREBELLUM

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

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

Measurement of brain iron distribution in Hallevorden-Spatz syndrome

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

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

Eye movement disorders inATP13A2mutation carriers (PARK9)

(2010) Björn Machner 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

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

(2010) Maura Poli et al.   NEUROBIOLOGY OF DISEASE

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

(2010) Xiaoling Deng et al.   NEUROSCIENCE LETTERS

Catalytic Function of PLA2G6 Is Impaired by Mutations Associated with Infantile Neuroaxonal Dystrophy but Not Dystonia-Parkinsonism

(2010) Laura A. Engel et al.   PLoS One

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

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

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

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

MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia

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

Lipid Oxidation and Peroxidation in CNS Health and Disease: From Molecular Mechanisms to Therapeutic Opportunities

(2009) Rao Muralikrishna Adibhatla et al.   ANTIOXIDANTS & REDOX SIGNALING

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

(2009) Maria Bozi et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model

(2009) Z. Wu et al.   HUMAN MOLECULAR GENETICS

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

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

SPG11 spastic paraplegia

(2009) Mathieu Anheim et al.   JOURNAL OF NEUROLOGY

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

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

(2009) Won Tae Yoon et al.   MOVEMENT DISORDERS

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

(2009) V. Mylius et al.   NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY

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

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

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

(2008) Jose Bras et al.   FEBS Journal

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

Focal hand dystonia in a patient withPANK2mutation

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