A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
| Autor: | Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Ricardo Oliveira Horta Maciel, Hsin Fen Chien, Rubens Paulo Araújo Salomão, Francisco Cardoso, Clecio Godeiro-Junior, Lívia Almeida Dutra, Hélio A.G. Teive, Maria Thereza Drumond Gama |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology clinical features Neurodegeneration with brain iron accumulation Neuroferritinopathy brain imaging Diabetes mellitus genetics 0302 clinical medicine genetics Aceruloplasminemia Dystonia neurodegeneration with brain iron accumulation Pantothenase NBIA Parkinsonism Neurodegeneration Ceruloplasmin Neurodegenerative Diseases Magnetic Resonance Imaging Neurology Heredodegenerative Disorders Nervous System medicine.medical_specialty Neuroaxonal Dystrophies Neuroimaging neuroimagem lcsh:RC321-571 03 medical and health sciences Basal Ganglia Diseases Parkinsonian Disorders Intellectual Disability Coenzyme A Ligases Neurodegeneração com acúmulo cerebral de ferro medicine Diabetes Mellitus Humans lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Pantothenate Kinase-Associated Neurodegeneration sinais clínicos business.industry Hypogonadism Membrane Proteins Alopecia Arrhythmias Cardiac genética medicine.disease Iron Metabolism Disorders Phospholipases A2 030104 developmental biology Mutation Neurology (clinical) business Neuroscience 030217 neurology & neurosurgery |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Volume: 74, Issue: 7, Pages: 587-596, Published: JUL 2016 Arquivos de Neuro-Psiquiatria v.74 n.7 2016 Arquivos de neuro-psiquiatria Academia Brasileira de Neurologia instacron:ABNEURO Arquivos de Neuro-Psiquiatria, Vol 74, Iss 7, Pp 587-596 (2016) |
| Popis: | Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology. RESUMO A neurodegeneração com acúmulo cerebral de ferro (sigla em inglês NBIA) representa um grupo heterogêneo e complexo de doenças neurodegenerativas hereditárias, caracterizada pelo acúmulo cerebral de ferro, especialmente nos núcleos da base. O quadro clínico das NBIAs em geral inclui distúrbios do movimento, particularmente parkinsonismo e distonia, disfunção cognitiva, sinais piramidais e anormalidades da retina. As formas de NBIA descritas até o momento incluem neurodegeneração associada a pantothenase kinase (PKAN), neurodegeneração associada a phospholipase A2 (PLAN), neuroferritinopatia, aceruloplasminemia, neurodegeneração associada a beta-propeller protein (BPAN), síndrome de Kufor-Rakeb, neurodegeneração associada a mitochondrial membrane protein (MPAN), neurodegeneração associada a “fatty acid hydroxylase” (FAHN), neurodegeneração associada a coenzyme A synthase protein (CoPAN) e síndrome de Woodhouse-Sakati. Esta revisão é uma orientação para o diagnóstico das NBIAs, partindo das características clínicas e achados de neuroimagem, até a etiologia genética. |
| Databáze: | OpenAIRE |
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