T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.

ABSTRACT:

Background

Neurodegeneration with brain iron accumulation (NBIA) defines a group of genetic disorders characterized by brain iron deposition and associated with neuronal death. The known causes of NBIA include pantothenate kinase-associated neurodegeneration (PKAN), neuroferritinopathy, infantile neuroaxonal dystrophy (INAD), and aceruloplasminemia.

Objective

To define the radiologic features of each NBIA subtype.

Methods

Brain MRIs from patients with molecularly confirmed PKAN (26 cases), neuroferritinopathy (21 cases), INAD (four cases), and aceruloplasminemia (10 cases) were analyzed blindly to delineate patterns of iron deposition and neurodegeneration.

Results

In most cases of PKAN, abnormalities were restricted to globus pallidus and substantia nigra, wit

SUBMITTER: McNeill A 

PROVIDER: S-EPMC2706154 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature