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)

Parkinsonism complicating systemic lupus erythematosus (SLE) is extremely rare. We report two girls with SLE who developed extrapyramidal parkinsonian features after an initial stormy course. One patient presented with generalized tonic clonic seizure and was then noted to have akinetic mutism and masked face. MRI brain revealed abnormal signals in bilateral basal ganglia and single photon emission computed tomography (SPECT) showed hypoperfusion in the same area. EEG background was slow and disorganized. Symptoms persisted despite high dose intravenous methylprednisolone and cyclophosphamide. Intravenous immunoglobulin (IVIG) was prescribed empirically and was followed by complete recovery. Both EEG and MRI brain were normal on follow-up. The second patient was found unconscious and then developed bradykinesia, mutism and shuffling gait. MRI and SPECT both detected abnormalities in basal ganglia. EEG was slow. Intravenous immunoglobulin was given after methylprednisolone and cyclophosphamide. This was followed by clinical improvement. The pathogenesis of basal ganglia injury in SLE, along with the management of cerebral lupus and the mechanisms of action of IVIG, are discussed.
Lupus 2000
PMID:Parkinsonism as unusual neurological complication in childhood systemic lupus erythematosus. 1098 56

Parkinsonism as a manifestation of central nervous system (CNS) lupus is extremely rare. We report the first patient with systemic lupus erythematosus (SLE) who developed a reversible parkinsonian syndrome associated with enhancing subcortical lesions on magnetic resonance imaging (MRI). Following treatment with prednisolone and cyclophosphamide, her bradyphrenia, bradykinesia, hypophonia, rigidity, and abnormal gait progressively improved. Three months after she commenced treatment, repeat MRI scanning demonstrated resolution of the abnormal subcortical white matter enhancement. Our case illustrates unusual clinico-radiologic correlates of reversible parkinsonism in a SLE patient; these findings suggest that disruption of the subcortical frontal pathways may be a possible pathophysiologic mechanism for parkinsonism in cerebral lupus.
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PMID:Reversible parkinsonism in systemic lupus erythematosus. 1171 51

Syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in systemic lupus erythematosus (SLE) is rare and related pathologic changes in brain images have not been reported. We report the case of a 49-year-old woman with SLE who developed extrapontine myelinolysis (EPM) following gradual correction of marked hyponatremia caused by SIADH. EPM was caused by the hyponatremia, which resulted in cerebral hypoxia and brain swelling. SIADH was most likely induced by the occult vasculitis of SLE. After partial correction of hyponatremia, she regained consciousness, but gradually developed parkinsonism including rigidity, bradykinesia, and tremors 1 week later. Magnetic resonance imaging revealed bilateral symmetrical brain lesions at the putamen, globus pallidus, and part of the thalamus. These symptoms improved gradually after administration of levodopa. Mild jerky tremors of both hands persisted 4 months later. The EPM lesions differ from those observed in central pontine myelinolysis (CPM), which is immediately induced by acute correction of hyponatremia. Therefore, hyponatremia in lupus-related SIADH should be carefully corrected to prevent CPM or EPM.
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PMID:Extrapontine myelinolysis in a patient with systemic lupus erythematosus: a case report. 1235 44

A 34-year-old woman has had systemic lupus erythematosus since 11 years, with multiple treatments and incomplete result. When examined in our department, she presented with a recent parkinsonian syndrome including bradykinesia, adiadochokinesia, cogwheel rigidity and postural tremor of hands. Deep tendon reflexes were increased. Brain MRI showed abnormal signal intensity in the periventricular white matter, internal capsule, brain stem, middle cerebellar peduncles and cerebellar hemispheres. She was treated with prednisone and mycophenolate for the lupus, and amantadine and benzhexol for the parkinsonian syndrome which resolved within ten months, while the lupus improved. There are 30 cases of Parkinson's disease as a complication of lupus reported in the literature. The pathogenesis may be cerebral vasculitis with ischemia, and antibodies against neurons, mainly dopaminergic. Twenty cases improved, eight of them with the treatment of the lupus alone.
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PMID:Parkinsonian syndrome as a complication of systemic lupus erythematosus. Report of a case and review of the literature. 2291 66

Dementia comprises several neurodegenerative disorders with similar neuropsychiatric features and Alzheimer's disease (AD) is the most common of them. Genetic factors are strongly implicated into its etiology especially for early-onset cases (EOAD) occuring before the age of 65. About 10% of these are inherited in autosomal dominant fashion via pathogenic polymorphisms in three genes- APP, PSEN-1, and PSEN-2. Despite genotypic clarity, however, phenotypic variability exists with different symptom constellations observed in patients with identical mutations. Below, we present a case of a 39-year-old male with a family history for early onset dementia who was referred to our department with anamnesis for abrupt behavioral change 7 months prior to hospitalization-noticeable slowing of speech and reactivity, impaired occupational functioning and irritability, followed by aphasic symptoms and transient episodes of disorientation. He was followed up for 2 years and manifested rapidly progressing cognitive decline with further deterioration of speech, apraxia, acalculia, ataxia, and subsequently bradykinesia and tremor. Based on the clinical and neuroimaging findings (severe cortical atrophy), familial EOAD was suspected and a whole exome sequence (WES) analysis was performed. It identified a heterozygous missense variant Leu424Val (g.71074C > G) in PSEN-1 gene considered to be pathogenic, and only reported once until now in a Spanish patient in 2009. Despite genotype identity however, distinct phenotypic presentations were observed in the two affected subjects, with different neuroimaging findings, and the presence and absence of seizures in the Spanish and Bulgarian case, respectively. Besides, myoclonus and spastic paraparesis considered "typical" EOAD clinical features were absent. Age of symptom onset was consistent with two of the reported mutations affecting 424 codon of PSEN-1 gene and significantly earlier than the other two implying that factors influencing activity of PSEN-1 pathological forms are yet to be clarified. Furthermore, our patient had co-occurring lupus erythematosus (LE) and we suggest that this condition might be etiologically linked to the PSEN-1 mutation. In addition to illustrating the symptomatic heterogeneity of PSEN-1 caused EOAD, our study confirms that in patients presenting with early cognitive deterioration and family history for dementia, WES can be especially informative and should be considered as a first-line examination.
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PMID:A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD. 3192 Jul 35