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Ganglia Calcification (ganglia + calcification)

Distribution by Scientific Domains

Medical Sciences	90%

Kinds of Ganglia Calcification

basal ganglia calcification

Selected Abstracts

Neuroradiologic Evidence of Pre-Synaptic and Post-Synaptic Nigrostriatal Dopaminergic Dysfunction in Idiopathic Basal Ganglia Calcification: A Case Report

JOURNAL OF NEUROIMAGING, Issue 2 2010
Takahiro Saito MD
ABSTRACT Idiopathic basal ganglia calcification (IBGC) is a neuropathological condition known to manifest as motor disturbance, cognitive impairment, and psychiatric symptoms. The pathophysiology of the psychiatric symptoms of IBGC, however, remains controversial. A previous biochemical study suggested that dopaminergic impairment is involved in IBGC. We thus hypothesized that dopaminergic dysfunction might be related with the psychiatric manifestations of IBGC. We used positron emission tomography to measure glucose metabolism and dopaminergic function in the basal ganglia of an IBGC patient with psychiatric symptoms. The results showed that widespread hypometabolism was evident in the frontal, temporal, and parietal cortices while the decline in dopaminergic function was severe in the bilateral striatum. The functional decline of the dopamine system in the calcified area of the bilateral striatum and the disruption of cortico-subcortical circuits may contribute to clinical manifestations of IBGC in our patient. [source]

Natural killer cell proliferation and circulating cytokines in patients with bilateral basal ganglia calcification

EUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2002
T. Morishima
Ten adult patients with symmetrical calcifications in the bilateral basal ganglia (diagnosed as physiological calcifications) were analyzed for lymphocyte subsets and cytokines. Increased number of natural killer (NK) cells were identified in the peripheral blood of seven patients by lymphocyte subset analysis. Tumor necrosis factor- , was detected in the sera of five patients and interferon- , was detected in one patient. In summary, NK cell propagation and circulating cytokines, particularly tumor necrosis factor- ,, may be involved in the etiology of basal ganglia calcification. [source]

Basal ganglia calcification and psychotic symptoms in the very old

INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 11 2003
Svante Östling
Abstract Background Basal ganglia calcification (BGC) is associated with psychotic symptoms in young and middle-aged patient samples. Methods We studied the cross-sectional relationship between psychotic symptoms and BGC in a population sample of non-demented 85-year-olds, of whom 86 were mentally healthy, 11 had hallucinations or delusions, 21 had mood disorders and 20 had anxiety disorders. BGC was measured using computerized tomography (CT). Mental disorders were diagnosed using DSM-III-R criteria and psychotic symptoms were evaluated using information from psychiatric examinations, key-informant interviews and review medical records. Results BGC on CT was observed in 19% of mentally healthy and 64% of non-demented individuals with hallucinations or delusions [Odds Ratio (OR) 7.7, 95% Confidence Intervals (CI) 2.9,29.7, p=0.003]. There were no associations between BGC and mood or anxiety disorders. Conclusions BGC is strongly associated with psychotic symptoms in very old age, possibly due to a disturbance in the basal ganglia dopaminergic system. Copyright © 2003 John Wiley & Sons, Ltd. [source]

Neuroradiologic Evidence of Pre-Synaptic and Post-Synaptic Nigrostriatal Dopaminergic Dysfunction in Idiopathic Basal Ganglia Calcification: A Case Report

Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike?

MOVEMENT DISORDERS, Issue 3 2003
Anthony E. Lang MD, FRCPC
[source]

Aicardi,Goutières syndrome presenting with haematemesis in infancy

ACTA PAEDIATRICA, Issue 12 2009
D Hall
Abstract Aicardi,Goutières syndrome is a genetic childhood encephalopathy characterized by basal ganglia calcification, chronic cerebrospinal lymphocytosis and elevated cerebrospinal fluid interferon-alpha, mimicking acquired congenital viral infections. As more is discovered about the pathogenesis of Aicardi,Goutières, it is becoming evident that a dysfunction of the immune system is likely to be responsible for the disease phenotype. We describe a previously healthy 2-month-old female infant who presented with haematemesis and seizures and was subsequently diagnosed with Aicardi,Goutières syndrome. To our knowledge, this is the first documented case of Aicardi,Goutières syndrome presenting with haematemesis. The gastrointestinal tract is an area of high cell loss, revealing early signs of systemic inflammation and we postulate that a systemic proinflammatory milieu occurs in Aicardi,Goutières syndrome. Conclusion: Aicardi,Goutières syndrome can present with haematemesis, adding to the growing evidence that the Aicardi,Goutières syndrome spectrum encompasses an immune-mediated multisystem involvement. Gastrointestinal inflammation should also be considered in these patients and treated appropriately. [source]

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome,

HUMAN MUTATION, Issue 7 2008
Guntram Borck
Abstract Mutations in the AP1S2 gene, encoding the ,1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recently identified in five X-linked mental retardation (XLMR) families, including the original family with Fried syndrome. Studying four patients in two unrelated families in which AP1S2 nonsense and splice-site mutations segregated, we found that affected individuals presented, in addition to previously described features, with elevated protein levels in cerebrospinal fluid (CSF). Moreover, computed tomography scans demonstrated that the basal ganglia calcifications associated with AP1S2 mutations appeared during childhood and might be progressive. Based on these observations, we propose that AP1S2 mutations are responsible for a clinically recognizable XLMR and autism syndrome associating hypotonia, delayed walking, speech delay, aggressive behavior, brain calcifications, and elevated CSF protein levels. Using the AP-2 complex, in which the , subunit is encoded by one single gene, as a model system, we demonstrated that , subunits are essential for the stability of human AP complexes. By contrast, no major alteration of the stability, subcellular localization, and function of the AP-1 complex was observed in fibroblasts derived from a patient carrying an AP1S2 mutation. Similarly, neither macro- nor microscopic defects were observed in the brain of an affected fetus. Altogether, these data suggest that the absence of an AP-1 defect in peripheral tissues is due to functional redundancy among AP-1 , subunits (,1A, ,1B, and ,1C) and that the phenotype observed in our patients results from a subtle and brain-specific defect of the AP-1-dependent intracellular protein traffic. Hum Mutat 29(7), 966,974, 2008. © 2008 Wiley-Liss, Inc. [source]

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

ARTHRITIS & RHEUMATISM, Issue 5 2010
Georgia Ramantani
Objective Aicardi-Goutières syndrome (AGS) is an early-onset encephalopathy resembling congenital viral infection that is characterized by basal ganglia calcifications, loss of white matter, cerebrospinal fluid (CSF) lymphocytosis, and elevated interferon-, levels in the CSF. Studies have shown that AGS is an autosomal-recessive disease linked to mutations in 5 genes, encoding the 3,-repair DNA exonuclease 1 (TREX1), the 3 subunits of ribonuclease H2 (RNASEH2A,C), and sterile alpha motif domain and HD domain,containing protein 1 (SAMHD1). In this study we further characterized the phenotypic spectrum of this disease. Methods Clinical and laboratory data were obtained from 26 patients fulfilling the clinical diagnostic criteria for AGS. Genomic DNA was screened for mutations in all 5 AGS genes by direct sequencing, and sera were analyzed for autoantibodies. Results In 20 patients with AGS, 20 mutations, 12 of which were novel, were identified in all 5 AGS genes. Clinical and laboratory investigations revealed a high prevalence of features (some not previously described in patients with AGS) that are commonly seen in patients with systemic lupus erythematosus (SLE), such as thrombocytopenia, leukocytopenia, antinuclear antibodies, erythematous lesions, oral ulcers, and arthritis, which were observed in 12 (60%) of 20 patients with AGS. Moreover, the coexistence of AGS and SLE, was for the first time, demonstrated in 2 patients with molecularly proven AGS. Conclusion These findings expand the phenotypic spectrum of lupus erythematosus in AGS and provide further insight into its disease mechanisms by showing that activation of the innate immune system as a result of inherited defects in nucleic acid metabolism could lead to systemic autoimmunity. [source]