Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032463 (polycythemia vera)
 3,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 67-year-old woman had the acute onset of vertical diplopia. Examination revealed that she had a "double elevator" palsy of the fixing left eye which resulted in a right hypertropia. During the medical evaluation of the patient it was established that she had polycythemia vera. It is suggested that the ocular movement disorder seen in this patient resulted from a small lesion adjacent to and including the right superior rectus subnucleus. The increased blood viscosity resulting from the patient's polycythemic state may have been a significant predisposition in the development of an occlusive vascular episode involving this area of the midbrain.
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PMID:Acquired "double elevator" palsy and polycythemia vera. 73 64

This report presents a 64-year-old female patient with unusual psychiatric and neurological complications in polycythemia vera. Six years after onset of the hematologic disorder the patient succumbed to an absolutely therapy-resistant depression, from which she has been suffering for the past four years--intensive and broad--spectrum drug and electroconvulsive treatment has failed to ameliorate the condition. In addition, the patient has developed a mixed movement disorder with rhythmical movements, mainly affecting the trunk, akathisia, hyperventilation, and pleurothotonus ("Pisasyndrome"). The paper discusses a possible link between hypoxic cerebral damage, caused by hyperviscosity of the blood due to polycythemia vera, and the therapy resistance of the depression. The case confirms that organic factors may cause therapy resistance in depressive disorders.
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PMID:Absolutely therapy-resistant depression and mixed movement disorder in an unusual case of polycythemia vera. 762 89

Chorea can have many causes, some hereditary and many sporadic in nature. The archetypal hereditary cause of chorea is Huntington's disease (HD). However, this condition often manifests as a mixed movement disorder, and some individuals with the Westphal variant may not display chorea at all. Moreover, since gene-specific testing has become available, we now know that in many cases of HD, particularly those with late onset, a positive family history may be lacking. In addition, dentatorubro-pallidoluysian atrophy (DRPLA), another dominantly inherited CAG repeat disease, can produce a similar clinical picture. In both conditions, the phenotype may vary according to repeat length, and anticipation and excess of paternal inheritance in younger-onset cases with longer repeat lengths are seen. Neuroacanthocytosis is probably genetically heterogenous, and many instances of "benign hereditary chorea" have been caused by other conditions. If it exists at all, this disorder is exceedingly rare. The principal causes of sporadic chorea include drugs, pregnancy, vascular disease, thyrotoxicosis, systemic lupus erythematosus (SLE) and the lupus anticoagulant syndrome, polycythaemia rubra vera, AIDS and both initial and recurrent Sydenham's chorea. The symptomatic treatment of chorea is unsatisfactory and, at least in HD, neuropsychiatric disturbance may be much more important for the family. Potential disease-modifying treatments such as anti-excitotoxins, antioxidants, free radical scavengers and neuronal grafting are now being explored in this condition.
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PMID:Huntington's disease and other choreas. 980 38

Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the genetic syndromes that may resemble it, including HDL1-3, inherited prion disease, spinocerebellar ataxias 1, 3 and 17, neuroacanthocytosis, dentatorubro-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia and mitochondrial disease. Acquired causes of chorea include vascular disease, post-infective autoimmune central nervous system disorders (PANDAS), drugs, systemic lupus erythematosus, antiphospholipid syndrome, thyrotoxicosis, AIDS, chorea gravidarum, and polycythaemia rubra vera. The authors suggest an approach to the clinical assessment of chorea, the value of investigations, including genetic tests (for which they offer a structured framework highlighting the importance of prior counselling), and finally briefly discuss symptomatic drug treatment of chorea.
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PMID:The differential diagnosis of chorea. 1802 76

Chorea is a movement disorder which is rarely caused by erythrocytosis. Erithrocytosis or polycythemia is the augmentation of the absolute erythrocytic mass and its most common primary cause is polycythemia vera. Some of the secondary causes are erythrocytosis by central hipoxia occurring in people who live in the highlands. Chore is a rare neurological manifestation of erythrocytosis occurring in 0.5 to 2% of these patients. There was a report of a 71 year-old male patient with generalized chorea of sudden onset predominant in mouth, tongue and face and lower limbs, secondary to acquired erythrocytosis, which improved after the number of erythrocytes decreased through successive sessions of phlebotomy.
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PMID:[Chorea and high altitude erythrocytosis: a case report]. 2444 53

Chorea is a movement disorder usually due to vascular, hereditary, metabolic or drug-induced causes, and has rarely been reported in association with polycythemia vera (PV). Polycythemic chorea is an uncommon clinical entity that occurs more often in elderly women. PV is a treatable cause of chorea and must be considered during the diagnostic approach. We report the case of a 75-year-old woman with involuntary movements of the mouth and face with subsequent involvement of the trunk and limbs who was admitted for investigation of the chorea. The patient had the haematological attributes of PV and a positive mutation in the janus kinase 2 (JAK2) gene, and was therefore treated with hydroxyurea which led to a marked reduction in the chorea and improvement in haematological parameters. Various aetiologies of chorea must be considered in the elderly. The present case illustrates the importance of considering PV in the differential diagnosis, since its treatment leads to chorea resolution, thus avoiding serious complications.
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PMID:Chorea, Pruritus and Polycythemia: Looking for Clues. 3093 Dec 69