Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎

Florian Brugger, Georg Kägi, Massimo Pandolfo, Niccolò E. Mencacci, Amit Batla, Sarah Wiethoff, Kailash P. Bhatia*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

View Supplementary Video. 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.

Original languageEnglish (US)
Pages (from-to)254-257
Number of pages4
JournalMovement Disorders Clinical Practice
Volume4
Issue number2
DOIs
StatePublished - Mar 1 2017

Keywords

  • NBIA
  • craniocervical dystonia
  • isolated dystonia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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