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Chapter 16 - Syndromes of Neurodegeneration with Brain Iron Accumulation

from Section II - A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Susanne A. Schneider ,
Carmen Espinós  and
Belén Pérez-Dueñas
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

The syndromes of neurodegeneration with brain iron accumulation (NBIA) are a group of disorders defined by progressive hypo- and/or hyperkinetic movement disorders and excessive iron deposition in the brain [1]. Iron predominantly accumulates in (and around) the basal ganglia, mainly the globus pallidus, and can be detected as hypointensity on T2-weighted images due to shortening effects on relaxation time. Brain pathology demonstrates degeneration of neurons and astrocytes. Eosinophilic, roundish swellings containing degenerate organelles (i.e. spheroid bodies) are also common in many subtypes of NBIA. Several genes associated with NBIA disorders have been identified (including PANK2, PLA2G6, WDR45, C19orf12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17).

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 215 - 229
Publisher: Cambridge University Press
Print publication year: 2020

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