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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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algorithm basal ganglia basal ganglia,lesion,bilateral chorea chromosomal abnormality developmental retardation dystonia dystonia,cervical gene mutation genetic neurologic disorders genetic testing globus pallidus globus pallidus,lesion of,bilateral Hallervorden Spatz disease iron,brain movement disorder movement disorder,extrapyramidal MRI,abnormal MRI,eye of tiger sign MRI,gradient-echo MRI,paramagnetic effect MRI,susceptibility weighted neurodegeneration with brain iron accumulation neurologic disease,diagnoses of PANK2 mutation Parkinsonism syndrome progressive neurologic disorder review article workup
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