A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080.

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.

Publication types

  • Review

MeSH terms

  • Alopecia / diagnostic imaging
  • Alopecia / genetics
  • Arrhythmias, Cardiac / diagnostic imaging
  • Arrhythmias, Cardiac / genetics
  • Basal Ganglia Diseases / diagnostic imaging
  • Basal Ganglia Diseases / genetics
  • Ceruloplasmin / deficiency
  • Ceruloplasmin / genetics
  • Coenzyme A Ligases / genetics
  • Diabetes Mellitus / diagnostic imaging
  • Diabetes Mellitus / genetics
  • Heredodegenerative Disorders, Nervous System / diagnostic imaging
  • Heredodegenerative Disorders, Nervous System / genetics
  • Humans
  • Hypogonadism / diagnostic imaging
  • Hypogonadism / genetics
  • Intellectual Disability / diagnostic imaging
  • Intellectual Disability / genetics
  • Iron Metabolism Disorders / diagnostic imaging*
  • Iron Metabolism Disorders / genetics*
  • Magnetic Resonance Imaging / methods
  • Membrane Proteins / genetics
  • Mutation*
  • Neuroaxonal Dystrophies / diagnostic imaging*
  • Neuroaxonal Dystrophies / genetics*
  • Neurodegenerative Diseases / diagnostic imaging
  • Neurodegenerative Diseases / genetics
  • Neuroimaging / methods*
  • Pantothenate Kinase-Associated Neurodegeneration / diagnostic imaging
  • Pantothenate Kinase-Associated Neurodegeneration / genetics
  • Parkinsonian Disorders / diagnostic imaging
  • Parkinsonian Disorders / genetics
  • Phospholipases A2 / genetics

Substances

  • Membrane Proteins
  • Ceruloplasmin
  • Phospholipases A2
  • Coenzyme A Ligases

Supplementary concepts

  • Familial apoceruloplasmin deficiency
  • Fatty Acid Hydroxylase-Associated Neurodegeneration
  • Kufor-Rakeb syndrome
  • Neurodegeneration with brain iron accumulation (NBIA)
  • Neuroferritinopathy
  • Woodhouse Sakati syndrome