Brugger, F; Kägi, G; Pandolfo, M; Mencacci, NE; Batla, A; Wiethoff, S; Bhatia, KP; (2017) Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎. Movement Disorders Clinical Practice , 4 (2) pp. 254-257. 10.1002/mdc3.12393.

Text Brugger_Kägi_NBIA_manuscript_final version_05_02_2016.docx - Accepted Version Access restricted to UCL open access staff Download (52kB)

Abstract

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.

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