Brain iron accumulation in aging and neurodegenerative disorders

2012 ◽  
Vol 12 (12) ◽  
pp. 1467-1480 ◽  
Author(s):  
Jesper Hagemeier ◽  
Jeroen JG Geurts ◽  
Robert Zivadinov
Keyword(s):  
Neurodegenerative Disorders ◽  
Iron Accumulation ◽  
Brain Iron

Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation

2013 ◽  
Vol 126 (1) ◽  
pp. 151-153 ◽  
Author(s):  
Dorota Dziewulska ◽  
Hiroshi Doi ◽  
Alfonso Fasano ◽  
Roberto Erro ◽  
Farzad Fatehi ◽  
...  
Keyword(s):  
Neurodegenerative Disorders ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Olfactory Impairment

scholarly journals Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition

2019 ◽  
Vol 12 (1) ◽  
pp. 27 ◽  
Author(s):  
Sonia Levi ◽  
Valeria Tiranti
Keyword(s):  
Neurodegenerative Disorders ◽  
Clinical Symptoms ◽  
Experimental Models ◽  
Iron Accumulation ◽  
Iron Deposition ◽  
Brain Iron ◽  
Pathogenetic Mechanism ◽  
Human Phenotype ◽  
Iron Proteins ◽  
Brain Iron Deposition

Neurodegeneration with brain iron accumulation (NBIA) is a set of neurodegenerative disorders, which includes very rare monogenetic diseases. They are heterogeneous in regard to the onset and the clinical symptoms, while the have in common a specific brain iron deposition in the region of the basal ganglia that can be visualized by radiological and histopathological examinations. Nowadays, 15 genes have been identified as causative for NBIA, of which only two code for iron-proteins, while all the other causative genes codify for proteins not involved in iron management. Thus, how iron participates to the pathogenetic mechanism of most NBIA remains unclear, essentially for the lack of experimental models that fully recapitulate the human phenotype. In this review we reported the recent data on new models of these disorders aimed at highlight the still scarce knowledge of the pathogenesis of iron deposition.

scholarly journals Late Onset Neurodegeneration with Brain-Iron Accumulation Presenting as Parkinsonism

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Robert Fekete
Keyword(s):  
Differential Diagnosis ◽  
Neurodegenerative Disorders ◽  
Late Onset ◽  
Iron Accumulation ◽  
Atypical Parkinsonism ◽  
Brain Iron ◽  
Dopamine Transporter Imaging ◽  
Mri Brain ◽  
Abnormal Brain ◽  
Brain Iron Deposition

Neurodegeneration with brain-iron accumulation (NBIA) encompasses a family of neurodegenerative disorders connected by evidence of abnormal brain iron deposition. Advances in imaging and genetic testing expanded the clinical spectrum of these disorders. Here, a case of parkinsonism and dystonia with orofacial stereotypies is presented. While the patient was initially diagnosed with Parkinson’s disease and placed on levodopa therapy, dopamine transporter imaging via (123)I-FP-CIT SPECT (DaTSCAN) was normal. MRI brain showed “eye of the tiger” sign on T2 weighted imaging. NBIA should be considered in the differential diagnosis of atypical parkinsonism.

Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders

2021 ◽  
Author(s):  
Prajnya Ranganath ◽  
Mallikarjun Patil
Keyword(s):  
Magnetic Resonance Imaging ◽  
Basal Ganglia ◽  
Magnetic Resonance ◽  
Neurodegenerative Disorders ◽  
Brain Magnetic Resonance Imaging ◽  
Iron Accumulation ◽  
Resonance Imaging ◽  
Brain Iron ◽  
Mri Brain ◽  
Magnetic Resonance Imaging Mri

AbstractThe “eye-of-the-tiger” sign in brain magnetic resonance imaging (MRI) is typically associated with neurodegeneration with brain iron accumulation disorders, especially pantothenate kinase-associated neurodegeneration. However, very similar neuroimaging findings may be seen in other neurodegenerative disorders involving the basal ganglia. We report here a patient with fucosidosis who had MRI brain findings closely resembling the “eye-of-the-tiger” sign.

Neurodegeneration with brain iron accumulation type 4 by mutation in the C19orf12 gene: first time found in adolescent of Russian origin

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
E Giagkou ◽  
S Lutz ◽  
U Schara ◽  
K Becker ◽  
C Möller-Hartmann
Keyword(s):  
Iron Accumulation ◽  
Brain Iron ◽  
First Time

Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation

2016 ◽  
Vol 10 (3) ◽  
pp. 178-180
Author(s):  
Menekse Sila Yazar ◽  
Nurhan Fistikci ◽  
Ozlem Devrim Balaban ◽  
Nezih Eradamlar ◽  
Latif Alpkan
Keyword(s):  
Psychotic Disorder ◽  
Iron Accumulation ◽  
Brain Iron

scholarly journals Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

Neurogenetics ◽  
2021 ◽  
Author(s):  
Chiara Cavestro ◽  
Celeste Panteghini ◽  
Chiara Reale ◽  
Alessia Nasca ◽  
Silvia Fenu ◽  
...  
Keyword(s):  
Early Onset ◽  
Cerebellar Atrophy ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Causative Gene ◽  
Coding Regions ◽  
Aberrant Transcript ◽  
Pathogenic Variants ◽  
Intronic Mutation ◽  
Mrna Analysis

AbstractPLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activation of an intronic pseudo-exon. These results expand the genotypic spectrum of PLAN, showing the paramount importance of detecting possible pathogenic variants in deep intronic regions in undiagnosed patients.

scholarly journals Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation

2021 ◽  
Vol 22 (15) ◽  
pp. 8247
Author(s):  
Cheng-Tsung Hsiao ◽  
Thomas F. Tropea ◽  
Ssu-Ju Fu ◽  
Tanya M. Bardakjian ◽  
Pedro Gonzalez-Alegre ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Iron Accumulation ◽  
Molecular Spectra ◽  
Loss Of Function ◽  
Brain Iron ◽  
Gain Of Function ◽  
Progressive Cerebellar Ataxia ◽  
Voltage Dependent ◽  
Window Current

Loss-of-function mutations in the KV4.3 channel-encoding KCND3 gene are linked to neurodegenerative cerebellar ataxia. Patients suffering from neurodegeneration associated with iron deposition may also present with cerebellar ataxia. The mechanism underlying brain iron accumulation remains unclear. Here, we aim to ascertain the potential pathogenic role of KCND3 variant in iron accumulation-related cerebellar ataxia. We presented a patient with slowly progressive cerebellar ataxia, parkinsonism, cognitive impairment, and iron accumulation in the basal ganglia and the cerebellum. Whole exome sequencing analyses identified in the patient a heterozygous KCND3 c.1256G>A (p.R419H) variant predicted to be disease-causing by multiple bioinformatic analyses. In vitro biochemical and immunofluorescence examinations revealed that, compared to the human KV4.3 wild-type channel, the p.R419H variant exhibited normal protein abundance and subcellular localization pattern. Electrophysiological investigation, however, demonstrated that the KV4.3 p.R419H variant was associated with a dominant increase in potassium current amplitudes, as well as notable changes in voltage-dependent gating properties leading to enhanced potassium window current. These observations indicate that, in direct contrast with the loss-of-function KCND3 mutations previously reported in cerebellar ataxia patients, we identified a rare gain-of-function KCND3 variant that may expand the clinical and molecular spectra of neurodegenerative cerebellar disorders associated with brain iron accumulation.

scholarly journals Clinical and genetic delineation of neurodegeneration with brain iron accumulation

2008 ◽  
Vol 46 (2) ◽  
pp. 73-80 ◽  
Author(s):  
A Gregory ◽  
B J Polster ◽  
S J Hayflick
Keyword(s):  
Iron Accumulation ◽  
Brain Iron
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