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 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.

journal_name

Arq Neuropsiquiatr

authors

Salomão RP,Pedroso JL,Gama MT,Dutra LA,Maciel RH,Godeiro-Junior C,Chien HF,Teive HA,Cardoso F,Barsottini OG

doi

10.1590/0004-282X20160080

subject

Has Abstract

pub_date

2016-07-01 00:00:00

pages

587-96

issue

7

eissn

0004-282X

issn

1678-4227

pii

S0004-282X2016000700587

journal_volume

74

pub_type

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