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

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, pantothenatekinase-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.

Oromandibular Dystonia – A Systematic Review

“…[ 70 ] Neurodegeneration with brain iron accumulation (NBIA) syndromes should be considered in patients with childhood or early adulthood onset cranio-cervical dystonia. [ 71 ] Associated features like Parkinsonism and pyramidal signs and radiological findings will point to the diagnosis. Jaw opening dystonia and facial dystonia have been described in type III GM1 gangliosidosis, observed in >80% of patients.…”

Dystonia, Chorea, and Ataxia: Three Challenging Cases

“…Botulinum neurotoxin and deep brain stimulation have been used with variable results. 3,8 In patients with the classic form, the disease leads to death in early childhood. Some patients experience rapid deterioration of function and die within 1 to 2 years of disease onset.…”

Neurodegeneration with brain iron accumulation

“…Atypical form is characterized by onset in the second or third decade of life (rarely in seventh and eighth decades). [16] The atypical disease has less severe dystonia and rigidity with slower progression to parkinsonism when compared with classic presentation.…”

“…Although rare, PKAN can be seen in late-onset focal dystonia, and a patient with isolated blepharospasm at the age of 55 years has been described with PKAN. [16]…”

“…A case of adult-onset isolated craniocervical dystonia with later development of parkinsonism identified as NFT has also been described. [16]…”