Movement disorders clinical practice · 2026
JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?
СтатьяНазвание и аннотация: Перевод в очереди
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Jurado Elena Ardila, Bavdhankar Koustubh, Garg Divyani, Magrinelli Francesca, Morris Huw R, Bhatia Kailash P
Аннотация
BACKGROUND: JAK2 variants are a hallmark of myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia. These disorders are often associated with thrombotic and inflammatory complications. From a movement disorder perspective, chorea is a rare but well-recognized neurological occurrence in this context, whereas parkinsonism has received limited attention.
OBJECTIVES: To describe parkinsonian phenotypes in patients with JAK2-mutated MPNs and explore possible pathophysiological links.
METHODS: We identified five patients with a JAK2-mutated MPNs and parkinsonism and reviewed their demographic and clinical features, neuroimaging, and levodopa response.
RESULTS: Parkinsonian phenotypes were heterogeneous, including Parkinson's disease (n = 2), atypical parkinsonism (n = 1), motor neuron disease with parkinsonism (n = 1), and chorea followed by parkinsonism (n = 1). The latter patient developed parkinsonism approximately 22 months after onset of generalized chorea. When available (n = 2), DaTscan was abnormal. Levodopa responsiveness was variable.
CONCLUSION: Although JAK2-mutated MPNs and parkinsonism may coexist coincidentally, recent evidence suggests plausible pathophysiological links, including vascular, inflammatory, immune-mediated, and treatment-related mechanisms.
OBJECTIVES: To describe parkinsonian phenotypes in patients with JAK2-mutated MPNs and explore possible pathophysiological links.
METHODS: We identified five patients with a JAK2-mutated MPNs and parkinsonism and reviewed their demographic and clinical features, neuroimaging, and levodopa response.
RESULTS: Parkinsonian phenotypes were heterogeneous, including Parkinson's disease (n = 2), atypical parkinsonism (n = 1), motor neuron disease with parkinsonism (n = 1), and chorea followed by parkinsonism (n = 1). The latter patient developed parkinsonism approximately 22 months after onset of generalized chorea. When available (n = 2), DaTscan was abnormal. Levodopa responsiveness was variable.
CONCLUSION: Although JAK2-mutated MPNs and parkinsonism may coexist coincidentally, recent evidence suggests plausible pathophysiological links, including vascular, inflammatory, immune-mediated, and treatment-related mechanisms.