Atypical, Early‐Onset Dystonia‐Parkinsonism with Oculogyric Crises and Anterior Horn Cell Disorder Due to a Novel DJ‐1 Mutation

Oculogyric Crisis in a Wilson's Disease Patient

“…However, in recent years, functional imaging studies have revealed that patients with OGC exhibit dopamine metabolism disorders. 5 Focal brain lesions, particularly in the brainstem and basal ganglia, can also contribute to the occurrence of OGC. A previous literature report described a case of OGC development following disulfiram poisoning, where brain MRI revealed bilateral lesions in the pallidum and the left substantia nigra.…”

Cranial Dystonia as an Isolated Presentation of DJ‐1 Disease: Case Report and Literature Review

“…Because of the small number of cases hitherto reported, the phenotype of DJ‐1– associated disorder remains poorly characterized. Despite often being described as a “Parkin‐like” parkinsonism, preliminary evidence suggests that the phenotypic spectrum of DJ‐1– related diseases is much broader, encompassing lower motor neuron pathology, oculogyric crises, and various nonmotor features 1–6 …”

“…Despite often being described as a "Parkin-like" parkinsonism, preliminary evidence suggests that the phenotypic spectrum of DJ-1-related diseases is much broader, encompassing lower motor neuron pathology, oculogyric crises, and various nonmotor features. [1][2][3][4][5][6] Dystonia, usually involving the foot, is a common feature of young-onset recessive parkinsonian syndromes, often presenting prior to overt parkinsonism. In contrast, focal dystonia involving the facial region alongside parkinsonism is an uncommon juxtaposition that invokes rarer disorders such as Wilson's disease, neuroacanthocytic disorders, brain iron accumulation disorders, and multiple system atrophy, often as a levodopa-related manifestation.…”