2016
DOI: 10.1590/0004-282x20160080
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A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

Abstract: 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 associat… Show more

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Cited by 47 publications
(46 citation statements)
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“…It is considered one of the neurodegeneration with brain iron accumulation disorders [4]. Our patient presented with classical features of the disease including neurological, endocrinal, and ectodermal symptoms [3].…”
Section: Discussionmentioning
confidence: 99%
“…It is considered one of the neurodegeneration with brain iron accumulation disorders [4]. Our patient presented with classical features of the disease including neurological, endocrinal, and ectodermal symptoms [3].…”
Section: Discussionmentioning
confidence: 99%
“…NBIA is a heterogeneous and complex group of inherited neurodegenerative diseases with pathological features of iron overload in the globus pallidus and other brain regions . Clinical features include parkinsonism and severe dystonia, gait abnormalities, cognitive disorders, pyramidal signs, and retinal abnormalities . So far, mutations in 10 genes have been identified including ferritin light chain (FTL) and ceruloplasmin (CP).…”
Section: Brain Iron Misregulation Is a Common Pathway In Neurodegenermentioning
confidence: 99%
“…Clinical features include parkinsonism and severe dystonia, gait abnormalities, cognitive disorders, pyramidal signs, and retinal abnormalities . So far, mutations in 10 genes have been identified including ferritin light chain (FTL) and ceruloplasmin (CP). Abnormalities in iron metabolism, mainly in neurons or astrocytes, have been demonstrated as a direct cause for neuroferritinopathy (NFP) and aceruloplasminaemia (CPM), which are induced by a mutation in FTL and CP, respectively .…”
Section: Brain Iron Misregulation Is a Common Pathway In Neurodegenermentioning
confidence: 99%
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“…In view of the complexities of the various clinical syndromes and patent overlapping between then, to reach a specific diagnosis is particularly challenging. In the article by Salomão et al 8 , in this issue, the authors provide a comprehensive review of the NBIA spectrum along with detailed clinical and radiological features that help to distinguish among the various types. Genetic tests, when available, should aid in the diagnosis.…”
mentioning
confidence: 99%