TY  - JOUR
VL  - 4
JF  - Movement Disorders Clinical Practice
TI  - Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series?
UR  - https://doi.org/10.1002/mdc3.12393
Y1  - 2017/03//
ID  - discovery10071984
AV  - restricted
IS  - 2
EP  - 257
SP  - 254
KW  - NBIA
KW  -  craniocervical dystonia
KW  -  isolated dystonia
N2  - 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.
A1  - Brugger, F
A1  - Kägi, G
A1  - Pandolfo, M
A1  - Mencacci, NE
A1  - Batla, A
A1  - Wiethoff, S
A1  - Bhatia, KP
SN  - 2330-1619
ER  -