Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lacunar infarcts in the basal ganglia are known to cause various movement disorders, such as chorea, focal dystonia, and hemichorea-hemiballismus. We report here a case of putaminal lacunar infarction which presented with "painful tonic spasms" of the contralateral limbs. This consisted of paroxysmal brief, painful, flexor contractures of the upper, and occasionally the lower limb. These were not focal seizures but were controlled with carbamazepine, which has been used for the "painful tonic spasms" well-associated with multiple sclerosis. The putaminal infarct we describe is probably related to a lupus anticoagulant and systemic lupus erythematosus.
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PMID:Painful tonic spasms caused by putaminal infarction. 381 Jul 37

Increasing numbers of patients are being recognized with neurological abnormalities associated with the immunochemical changes of plasma cell disease. To illustrate the wide spectrum of clinical disorders that can be found, I discuss in detail 5 patients: 2 with neuropathy, 3 with amyotrophic lateral sclerosis (ALS), all of whom had serum monoclonal paraproteinemia. In addition, I report in tabular form 6 patients with paraproteinemia and the following clinical presentations: 1) systemic lupus with polyneuropathy and severe cerebritis, 2) myasthenia gravis with thymoma, 3) polymyositis, 4) polymyositis, arthritis and Grave's disease, 5) relapsing polyneuritis (one of the original patients diagnosed by Austin) and 6) ALS, dystonia and parkinsonism. Major improvements in clinical condition occurred sometimes, but not always, coincident with reductions in the levels of the paraprotein using prednisone, cyclophosphamide, chlorambucil and plasma exchange treatments even in some of the patients who had the clinical appearance of ALS. Patients with neuromuscular diseases should be routinely screened with serum immunoelectrophoresis for monoclonal gammopathy. If a monoclonal gammopathy is found and if the disease is serious, then those patients should be treated as if they had an autoimmune disorder.
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PMID:Neuropathy and motor neuron syndromes associated with plasma cell disease. 647 86

A young male patient who presented with steroid-responsive parkinsonism, hemiplegia, thrombocytopaenia and systemic illness who was subsequently diagnosed to have systemic lupus erythematosus (SLE) is described. He later developed post-hemiplegic dystonia. Thalamic lesions on magnetic resonance imaging (MRI) are demonstrated. Clinical features and neuropathology of central nervous system lupus are discussed. This is the first report of SLE presenting with Parkinsonism, and the first to demonstrate anatomically-relevant MRI lesions in Parkinsonism associated with SLE.Copyright Lippincott-Raven Publishers
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PMID:Systemic lupus erythematosus presenting with steroid-responsive parkinsonism and post-hemiplegic dystonia. 1021 Aug 49

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent thrombotic events and/or pregnancy morbidity that may be isolated (Primary APS) or associated with other diseases, mainly of autoimmune origin (Secondary APS). A variety of neurological symptoms may occur in association with the disease, including movement disorders. We report on a 79 year old woman with an unremarkable past medical history who progressively developed psychomotor agitation and insomnia through a period of four months, followed by an acute onset complex hyperkinetic syndrome with chorea, focal left foot dystonia, oral dyskinesias and severe speech impairment. Brain MRI showed multiple subcortical lesions without basal ganglia involvement, and a large cortical lesion in the left posterior temporal lobe that appeared to be ischemic. These findings along with a strongly elevated titer of anticardiolipin (aCL) and anti-beta(2) glycoprotein-I antibodies and positive Lupus Anticoagulant (LAC) suggested a diagnosis of Antiphospholipid Syndrome, confirmed 14 weeks later as a Primary syndrome. The autoimmune mechanisms possibly responsible for the patient's clinical picture are discussed. This case underlines the importance of taking into account APS as a cause of unusual movement disorders even in elderly patients without evidence of previous thrombotic events.
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PMID:Complex movement disorders in primary antiphospholipid syndrome: a case report. 1934 15

Belimumab is a monoclonal antibody against soluble B-lymphocyte stimulator, an essential growth factor for B-cell maturation and activation, which was approved by the US FDA in 2011 for patients with active autoantibody-positive systemic lupus erythematosus (SLE) who have failed standard treatment. Here we present the case of a 40-year-old woman with SLE diagnosed with progressive multifocal leukoencephalopathy (PML) on belimumab. After a total of 10 infusions of belimumab, from August 2012 through April 2013, in April 2013 she developed progressive neurologic decline with episodic dystonia and autonomic symptoms. Her imaging showed multifocal, confluent regions of T2 hyperintensity in the white matter bilaterally, and CSF JCV PCR returned positive. Based on the patient's clinically mild SLE and the timing of symptom onset, belimumab likely played a key role in the development of PML. Trials of belimumab for other autoimmune diseases are ongoing; as applications for this novel drug broaden, careful monitoring for this potentially fatal adverse effect is warranted.
Lupus 2014 Jun
PMID:A case of progressive multifocal leukoencephalopathy in a lupus patient treated with belimumab. 2510 35

We report a 40-year-old woman with systemic lupus erythematosus (SLE) and associated inflammatory polyarthritis who presented with acute facial dystonic spasms. Her speech was also affected. An MRI brain showed bilateral symmetrical basal ganglia signal change on T2. This movement disorder was due to an acute manifestation of her lupus. Her symptoms resolved rapidly following treatment with (oral) steroids. Repeat MRI brain at 1 month showed complete resolution of the basal ganglia signal change. This is the first time that facial spasms and dystonia with corresponding MRI changes are reported as a presentation of lupus affecting the central nervous system (CNS lupus).
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PMID:Bilateral reversible basal ganglia changes associated with dystonia and hemifacial spasms in central nervous system lupus. 2680 75

Dystonia as a manifestation of neuropsychiatric lupus erythematosus (NPSLE) is uncommon. We report a 25-year-old woman who experienced progressive confusion, reduced speech, and difficulty opening her mouth approximately 2 weeks after development of a facial rash. Brain imaging showed bilateral, symmetric signal abnormalities within the basal ganglia and subcortical white matter. Despite treatment with high-dose steroids, she continued to have difficulty speaking with evidence of jaw dystonia on examination. Jaw dystonia rapidly improved with the initiation of levodopa. Repeat evaluation 3 months later exhibited the absence of jaw dystonia and near resolution of the imaging abnormalities. Our patient demonstrated a unique presentation with jaw dystonia refractory to traditional treatment for NPSLE. Such a presentation likely represents a severe variant of NPSLE requiring both immunosuppressive and symptomatic therapies.
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PMID:Jaw Dystonia and Reversible Basal Ganglia Changes as an Initial Presentation of Systemic Lupus Erythematosus. 2927 61