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Neurodegeneration With Brain Iron Accumulation ( NBIA ) Syndromes Presenting With Late‐Onset Craniocervical Dystonia: An Illustrative Case Series
Author(s) -
Brugger Florian,
Kägi Georg,
Pandolfo Massimo,
Mencacci Niccolò E.,
Batla Amit,
Wiethoff Sarah,
Bhatia Kailash P.
Publication year - 2016
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12393
Subject(s) - dystonia , neurodegeneration , neuroscience , age of onset , movement disorders , medicine , disease , differential diagnosis , pediatrics , psychology , pathology
View Supplementary Video 1 Neurodegeneration with brain iron accumulation ( NBIA ) mostly has its disease onset in childhood, adolescence, or early adulthood and usually presents with predominant bulbar and axial dystonia along with signs such as spasticity, indicating an involvement of additional neurological systems. Because of their early onset and presentation with a combination of dystonia plus other neurological symptoms, they are usually not considered as differential diagnosis for late‐onset isolated (idiopathic) craniocervical dystonia. In this case series, we present 4 genetically proven cases of NBIA (including neuroferritinopathy, pantothenate‐kinase‐associated neurodegeneration, and aceruloplasminemia) with late disease onset, which resembled isolated adult‐onset craniocervical dystonia at disease onset. We also want to highlight the importance of taking NBIA into consideration when dealing with putatively isolated late‐onset dystonias and of picking up unusual signs at later stages of the disease.