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Neurodegeneration with brain iron accumulation

Batla, A; Gaddipati, C; (2019) Neurodegeneration with brain iron accumulation. Annals of Indian Academy of Neurology , 22 (3) pp. 267-276. 10.4103/aian.AIAN_481_18.

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Abstract

The term NBIA encompasses a heterogeneous group of inherited disorders characterized clinically by progressive extra pyramidal syndrome and pathologically by excessive iron deposition in brain, primarily affecting the basal ganglia (globus pallidus mainly).The hallmark of this syndrome is the age specific phenotypic presentation and intraphenotypic heterogeneity. NBIAs at present include ten subtypes with genes identified in nine subtypes. They form an important differential diagnosis for the phenotype of global developmental delay in infancy/childhood to dystonia-parkinsonism or isolated parkinsonism at all ages and also for the isolated craniocervical dystonia of adult onset. There needs to be a high index of clinical suspicion for this syndrome and the evaluation includes MRI brain T2∗ weighted imaging which reveal symmetrical iron deposition in bilateral globus pallidi and other basal ganglia. The T2 ∗ imaging pattern of iron deposition varies amongst the different subtypes and the combination of clinical phenotype and MRI signature makes it easier to confidently make a diagnosis of NBIA and to recommend genetic testing. The treatment to date is mostly symptomatic with targeted therapies on the horizon.

Type: Article
Title: Neurodegeneration with brain iron accumulation
DOI: 10.4103/aian.AIAN_481_18
Publisher version: https://doi.org/10.4103/aian.AIAN_481_18
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: NBIA, global developmental delay, dystonia parkinsonism, parkinsonism
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > ION Central Administration
URI: https://discovery.ucl.ac.uk/id/eprint/10078736
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