Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?
نویسندگان
چکیده
منابع مشابه
Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the phenotypic characterization of the dystonia has been lost. In evaluating patients with NBIAs in our centers, we have observed that action-indu...
متن کاملneurodegeneration with brain iron accumulation: an overview
how to cite this article: tonekaboni sh, mollamohammadi m. neurodegeneration with brain iron accumulation: an overview. iran j child neurol. 2014 autumn;8(4): 1-8. abstract objective 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...
متن کاملAn overview of Neurodegeneration with brain iron accumulation (NBIA) syndromes and the disease status in Iranian population: review article
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...
متن کاملNeurodegeneration with brain iron accumulation.
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive extrapyramidal disorders with radiographic evidence of focal iron accumulation in the brain, usually in the basal ganglia. Patients previously diagnosed with Hallervorden-Spatz syndrome fall into this category. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive...
متن کاملNeurodegeneration with Brain Iron Accumulation: An Overview
OBJECTIVE 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 auto...
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ژورنال
عنوان ژورنال: Movement Disorders
سال: 2013
ISSN: 0885-3185
DOI: 10.1002/mds.25490