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Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
See this aricle in Pubmed

Article Abstract
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* 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.
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basal ganglia
basal ganglia,lesion,bilateral
chromosomal abnormality
developmental retardation
gene mutation
genetic neurologic disorders
genetic testing
globus pallidus
globus pallidus,lesion of,bilateral
Hallervorden Spatz disease
movement disorder
movement disorder,extrapyramidal
MRI,eye of tiger sign
MRI,paramagnetic effect
MRI,susceptibility weighted
neurodegeneration with brain iron accumulation
neurologic disease,diagnoses of
PANK2 mutation
Parkinsonism syndrome
progressive neurologic disorder
review article

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