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      Neurodegeneration with Brain Iron Accumulation: An Overview

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          Abstract

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          Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorder with deposition of iron in the brain (mainly Basal Ganglia) leading to a progressive Parkinsonism, spasticity, dystonia, retinal degeneration, optic atrophy often accompanied by psychiatric manifestations and cognitive decline. 8 of the 10 genetically defined NBIA types are inherited as autosomal recessive and the remaining two by autosomal dominant and X-linked dominant manner. Brain MRI findings are almost specific and show abnormal brain iron deposition in basal ganglia some other related anatomical locations. In some types of NBIA cerebellar atrophy is the major finding in MRI.

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          Clinical and genetic delineation of neurodegeneration with brain iron accumulation.

          S. Hayflick, Walter Gregory, Brenda J Polster (2009)
          Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive neurodegenerative disorders characterised by high brain iron and the presence of axonal spheroids, usually limited to the central nervous system. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive inborn error of coenzyme A metabolism called pantothenate kinase associated neurodegeneration (PKAN). More recently, it was found that mutations in the PLA2G6 gene cause both infantile neuroaxonal dystrophy (INAD) and, more rarely, an atypical neuroaxonal dystrophy that overlaps clinically with other forms of NBIA. High brain iron is also present in a portion of these cases. Clinical assessment, neuroimaging, and molecular genetic testing all play a role in guiding the diagnostic evaluation and treatment of NBIA.
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            Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

            Monika B. Hartig, Arcangela Iuso, Tobias Haack … (2011)
            The disease classification neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive neurodegenerative disorders characterized by brain iron deposits in the basal ganglia. For about half of the cases, the molecular basis is currently unknown. We used homozygosity mapping followed by candidate gene sequencing to identify a homozygous 11 bp deletion in the orphan gene C19orf12. Mutation screening of 23 ideopathic NBIA index cases revealed two mutated alleles in 18 of them, and one loss-of-function mutation is the most prevalent. We also identified compound heterozygous missense mutations in a case initially diagnosed with Parkinson disease at age 49. Psychiatric signs, optic atrophy, and motor axonal neuropathy were common findings. Compared to the most prevalent NBIA subtype, pantothenate kinase associated neurodegeneration (PKAN), individuals with two C19orf12 mutations were older at age of onset and the disease progressed more slowly. A polyclonal antibody against the predicted membrane spanning protein showed a mitochondrial localization. A histopathological examination in a single autopsy case detected Lewy bodies, tangles, spheroids, and tau pathology. The mitochondrial localization together with the immunohistopathological findings suggests a pathomechanistic overlap with common forms of neurodegenerative disorders. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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              T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.

              Christian E Zimmerman, Walter Gregory, D. Birchall … (2008)
              Neurodegeneration with brain iron accumulation (NBIA) defines a group of genetic disorders characterized by brain iron deposition and associated with neuronal death. The known causes of NBIA include pantothenate kinase-associated neurodegeneration (PKAN), neuroferritinopathy, infantile neuroaxonal dystrophy (INAD), and aceruloplasminemia. To define the radiologic features of each NBIA subtype. Brain MRIs from patients with molecularly confirmed PKAN (26 cases), neuroferritinopathy (21 cases), INAD (four cases), and aceruloplasminemia (10 cases) were analyzed blindly to delineate patterns of iron deposition and neurodegeneration. In most cases of PKAN, abnormalities were restricted to globus pallidus and substantia nigra, with 100% having an eye of the tiger sign. In a minority of PKAN cases there was hypointensity of the dentate nuclei (1/5 on T2* sequences, 2/26 on fast spin echo [FSE]). In INAD, globus pallidus and substantia nigra were involved on T2* and FSE scans, with dentate involvement only seen on T2*. By contrast, neuroferritinopathy had consistent involvement of the dentate nuclei, globus pallidus, and putamen, with confluent areas of hyperintensity due to probable cavitation, involving the pallida and putamen in 52%, and a subset having lesions in caudate nuclei and thalami. More uniform involvement of all basal ganglia and the thalami was typical in aceruloplasminemia, but without cavitation. In the majority of cases, different subtypes of neurodegeneration associated with brain iron accumulation can be reliably distinguished with T2* and T2 fast spin echo brain MRI, leading to accurate clinical and subsequent molecular diagnosis.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Iran J Child Neurol
                Journal ID (iso-abbrev): Iran J Child Neurol
                Journal ID (publisher-id): IJCN
                Title: Iranian Journal of Child Neurology
                Publisher: Shahid Beheshti University of Medical Sciences (Tehran, Iran )
                ISSN (Print): 1735-4668
                ISSN (Electronic): 2008-0700
                Publication date (Print): Autumn 2014
                Volume: 8
                Issue: 4
                Pages: 1-8
                Affiliations
                [1 ]Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran
                [2 ]Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran
                [3 ]Pediatric Neurology Department, Hazrat Fatemeh Masoumeh Hospital, Qom University of Medical Sciences, Qom, Iran
                Author notes
                Corresponding Author; Tonekaboni S.H. MD, Shariati Ave, Pediatric Neurology Dep., Mofid Children Hospital, Tehran, Iran, Tel: +98 21 22909559, Fax:+ 98 21 22919303, Email: shtonekaboni@yahoo.com
                Article
                Publisher ID: ijcn-8-001
                PMC ID: 4307362
                PubMed ID: 25657764
                SO-VID: 6e26268c-87e0-4f44-ac4a-e53ec0d3ca67
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License, ( http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 1 November 2014
                Date revision received : 10 November 2014
                Date accepted : 15 November 2014
                Categories
                Subject: Review Article

                Keywords: pantothenate kinase associated neurodegeneration,neurodegeneration with brain iron accumulation,hallervorden- spatz syndrome,neuroaxonal dystrophy
                Data availability:
                Keywords: pantothenate kinase associated neurodegeneration, neurodegeneration with brain iron accumulation, hallervorden- spatz syndrome, neuroaxonal dystrophy

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