Generalized Chorea and <scp>JAK2V617F Mutation‐Positive</scp> Myeloproliferative Disorders

Betté, Sagari; Moore, Henry

doi:10.1002/mdc3.12935

Cited by 6 publications

(11 citation statements)

References 6 publications

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“…However, most functional neuroimaging and pathological studies failed to detect different striatal characteristics in polycythemia vera patients with and without chorea. 3 Furthermore, chorea was reported in JAK2 V617Fpositive patients before or in the absence of hematological abnormalities meeting criteria for MPNs, 6,7 suggesting that blood hyperviscosity alone is not sufficient to explain chorea development.…”

Section: Discussionmentioning

confidence: 99%

“…3,8 Recently, Betté and Moore speculated that, because JAK2 is expressed in vivo by striatal progenitor cells, the somatic gain-offunction variant JAK2 V617F might cause chorea through local inflammation and impaired neurosignaling in the striatum. 7,9 In other words, the acquisition of JAK2 V617F by hematopoietic cells could upregulate systemic cytokines with receptors in the striatum, leading to striatal overactivation and ultimately chorea. This mechanism might also contribute to chorea in autoimmune conditions 8 but does not explain why only a small percentage of JAK2 V617F -positive patients develop chorea.…”

Section: Case Reportmentioning

confidence: 99%

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Late‐Onset Chorea in JAK2‐Associated Essential Thrombocythemia

Kutty

Lazzaro

Magrinelli

et al. 2020

Movement Disord Clin Pract

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Section: Discussionmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

Late‐Onset Chorea in JAK2‐Associated Essential Thrombocythemia

Kutty

Lazzaro

Magrinelli

et al. 2020

Movement Disord Clin Pract

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“…Aberrant activation of this pathway is commonly detected in multiple types of solid and hematological cancers [17]. JAK2 is also expressed in vivo by striatal progenitor cells in the central nervous system [18]. The JAK2V617F mutation disturbs JAK2 ′ s auto-inhibitory activity, leading to increased neuroinflammation, astrogliosis, and the intensification of cell proliferation, differentiation, and migration [13,18,19].…”

Section: The Link Between Mpd and Choreamentioning

confidence: 99%

“…The increased blood cell number represents a risk factor for hyperviscosity and thrombosis [18,19]. This prothrombotic state, leading to ischemic lesions in the basal ganglia, can cause chorea, a neurological complication described especially in PV, with a prevalence of 1-2.5% [22].…”

Section: The Link Between Mpd and Choreamentioning

confidence: 99%

Chorea and Cognitive Impairment in JAK2V617F-Positive Myeloproliferative Disorders: A Case Report and Literature Review

Butnariu,

Antonescu-Ghelmez,

Moraru

et al. 2023

Medicina

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Chorea is a hyperkinetic movement disorder, accompanied by dystonia, myoclonus, tics, stereotypies, and tremors. It is characterized by excessive, purposeless movements that are distressing, irregularly timed, and randomly distributed. Chorea can be present in many diseases, such as hereditary, metabolic disturbance, drug-induced, and functional disorders, and, rarely, genetic, autoimmune, and infectious diseases. Primary myelofibrosis (PMF) is a myeloproliferative neoplasm that leads to ineffective clonal hematopoiesis, fibrous tissue deposits in the bone marrow, extramedullary hematopoiesis, and splenomegaly. In rare cases, following uncertain pathological mechanisms, it can present with chorea, particularly affecting the limbs, head, and orofaciolingual muscles. We present a case of a male patient with evolving PMF over several years who was admitted for progressive cognitive impairment and generalized involuntary movement disorder. We also present a review of all cases of myeloproliferative disorders presenting with chorea published in the last 40 years.

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“…The presence of chorea in PV is considered to be due to the expression of JAK2 in the striatum, with activation leading to astrogliosis and inflammation, suggesting the possibility of a direct mechanism for chorea, without the presence of polycythemia. 7 Various hypotheses have been postulated for the mechanism of chorea in secondary polycythemia, which is characterized by elevated hemoglobin and hematocrit levels without a JAK2 mutation. The response to phlebotomy, in the majority cases of sec-ondary polycythemia, suggests the role of increased hematocrit.…”

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confidence: 99%

Generalized Chorea Due to Secondary Polycythemia Responding to Phlebotomy

Cherian¹,

Paramasivan²,

Puthanveedu³

et al. 2021

JMD

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Dear Editor, Chorea can be seen in association with polycythemia rubra vera (PV) or primary polycythemia, especially in elderly women. However, chorea due to secondary polycythemia is rare, and we report a case in an adolescent boy due to congenital cyanotic heart disease and its rewarding response to phlebotomy.A 15-year-old boy, born of non-consanguineous parentage, with cyanotic spells since 6 months of age, was found to have ventricular septal defect and pulmonary atresia for which he underwent placement of a bidirectional Glenn shunt and left pulmonary artery plasty at 12 years of age. He presented to us with a 2-month history of abnormal fidgety movements and difficulties with feeding and holding objects. There was no previous history of rheumatic fever nor were there any recent infections or drug exposure. Family history was negative for chorea. Physical examination showed facial dysmorphism in the form of hypertelorism, a low hair line, low-set ears and webbed neck. He had central cyanosis and pandigital clubbing, with a resting oxygen saturation of 75%. He was noted to have generalized chorea of all four limbs (right > left), facial chorea, variable tone in upper and lower limbs (segment 1, Supplementary Video 1 in the online-only Data Supplement) and a choreic gait. Muscle power and reflexes were normal, and there were no cerebellar signs. Routine blood evaluation showed a hemoglobin level of 22 g/dL with a hematocrit of 70%. Serum calcium, phosphorus and intact parathyroid hormone levels were within normal limits. Results of serum antistreptolysin O titer, vascu-

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Generalized Chorea and JAK2V617F Mutation‐Positive Myeloproliferative Disorders

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Cited by 6 publications

References 6 publications

Late‐Onset Chorea in JAK2‐Associated Essential Thrombocythemia

Late‐Onset Chorea in JAK2‐Associated Essential Thrombocythemia

Chorea and Cognitive Impairment in JAK2V617F-Positive Myeloproliferative Disorders: A Case Report and Literature Review

Generalized Chorea Due to Secondary Polycythemia Responding to Phlebotomy

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