Neurodegeneration with brain iron accumulation--late onset slowly progressive variant.
نویسندگان
چکیده
Neurodegeneration with Brain Iron Accumulation (NBIA) is a rare type of neuroaxonal dystrophy that can be familial or sporadic, characterized by progressive extrapyramidal degeneration. We report a case of 23 year old male who presented with cervical dystonia, dysarthria and MRI brain suggestive of characteristic "eye-of-the-tiger" appearance in the globus pallidus.
منابع مشابه
Adult-onset neurodegeneration with brain iron accumulation and cortical alpha-synuclein and tau pathology: a distinct clinicopathological entity.
BACKGROUND Neurodegeneration with brain iron accumulation is a rare neurodegenerative disorder characterized by iron deposition in the basal ganglia and neuroaxonal dystrophy. Familial cases with mutations in the pantothenate kinase gene are associated with a specific phenotype. In contrast, sporadic cases are heterogeneous in their clinical presentation. OBJECTIVE To describe an atypical cas...
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Neurodegeneration with brain iron accumulation (NBIA) is a rare set of inherited neurodegenerative disorders with abnormal accumulation of iron in basal ganglia. It is a clinically and genetically heterogeneous disorder that is characterized by movement disorders, dystonia, dysarthria, Parkinsonism, intellectual disability, and spasticity. The age at onset varies from childhood to adulthood and...
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ورودعنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 59 شماره
صفحات -
تاریخ انتشار 2011