Neurodegeneration with brain iron accumulation

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Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous group of hereditary (predominantly autosomal recessive) progressive disorders of the CNS with a common feature of iron accumulation in basal ganglia and characteristic MRI image. By now, nine genes responsible for different NBIA are known, and some of these genes cause the development of several allelic phenotypes. In the review, current data on NBIA clinical and molecular genetic aspects, particularly on recently discovered forms and atypical clinical variants, are summarized.

About the authors

Galina E. Rudenskaya

Research Centre for Medical Genetics

Author for correspondence.
Email: rudenskaya@med-gen.ru
Russian Federation, Moscow

E. Yu. Zakharova

Research Centre for Medical Genetics

Email: rudenskaya@med-gen.ru
Russian Federation, Moscow

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