SciELO - Scientific Electronic Library Online

 
vol.74 issue7Endoscopic endonasal management of cerebrospinal fluid rhinorrhea after anterior clinoidectomy for aneurysm surgery: changing the paradigm of complication management author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Abstract

SALOMAO, Rubens Paulo Araújo et al. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. Arq. Neuro-Psiquiatr. [online]. 2016, vol.74, n.7, pp.587-596. ISSN 0004-282X.  http://dx.doi.org/10.1590/0004-282X20160080.

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.

Keywords : neurodegeneration with brain iron accumulation; NBIA; clinical features; brain imaging; genetics.

        · abstract in Portuguese     · text in English     · English ( pdf )