Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q16637 (SMA)
 8,107 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 18-year-old female patient with livedo reticularis and neurological disturbances. CT scan showed two big ischemic focuses in the pons, moreover MRI revealed small disseminated ischemic focuses in the pons and deep structures of both brain hemispheres. MRA demonstrated no changes in the big extracranial and intracranial arteries. Since the clinical data and neuroimaging results suggested Sneddon's syndrome, the skin and skeletal muscle biopsy was taken to examine. The immunohistochemical and ultrastructural investigations of the skin biopsy revealed a significant reduction of the lumen of the capillaries and small to medium-sized arteries. Cells surrounding the vascular lumen, frequently with multilayer arrangement and their nuclei placed perpendicularly to the lumen, were CD31, CD34, and sporadically SMA positive. At the ultrastructural level, these proliferating cells showed typical features of endothelial cells: abundant intermediate filaments and Weibel-Palade bodies. Between the endothelial cells some junctions were detached as well in the capillaries as in the small arteries. The smooth muscle cells of the small arteries were electron denser than usual and their cytoplasmic protrusions penetrated to the endothelial cells. The ultrastructural picture of some vessels with a considerably narrow lumen was typical of vessels newly formed during angiogenesis. Neuroimaging including TC, MRI, MRA besides histological, immunohistochemical and ultrastructural evaluation may be useful for diagnosis of Sneddon's syndrome.
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PMID:Sneddon's syndrome as a disorder of small arteries with endothelial cells proliferation: ultrastructural and neuroimaging study. 1641 98

The present study used functional MRI to clarify the brain regions activated during a series of motor sequencing tasks in healthy volunteers. Ten subjects were scanned while performing three soft signs tasks ranging from simple (PT: palm tapping), moderate (PS: pronation/supination) to complex movements (FEP: fist-edge-palm). The FEP task induced significant activations within the cortical networks including bilateral sensorimotor, SMA, left parietal, and right cerebellum, but no activation in the prefrontal area. Moreover, the percentage signal changes within the left sensorimotor, left thalamus and right cerebellum showed an increase in activation with task complexity. The present findings challenge the traditional belief that FEP was a task for frontal lobe function but suggest that successful performance of more complex neurological soft sign tasks like FEP requires the participation of more brain areas than simple motor sequencing and coordination task like PS and PT. These also provide the empirical data on the neural basis of neurological soft signs for further study in other clinical group like schizophrenia in the near future.
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PMID:The neural basis of motor sequencing: an fMRI study of healthy subjects. 1646 46

Using f-MRI, we have studied the changes induced by the performance of a complex sequential motor task in the cortical areas of nine akinetic PD patients and compared to that of healthy volunteers. Compared with normal subjects, PD patients showed a reduction of activation of motor and SMA areas, an increase of activation of parietal areas and a bilateral activation of cerebellar hemispheres, which are likely to participate in the attempt to recruit parallel motor circuits in order to overcome the striatocortical defective loop.
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PMID:[Role of the cerebellum in the control of distal motor activities in patients with akinetic-rigid Parkinson disease]. 1649 44

Increasing evidence suggests that schizophrenia is associated with various morphological and functional abnormalities of the frontal cortex. So far research has concentrated on the dorsolateral and orbitofrontal cortex. Behavioral evidence suggests however that regions responsible for higher motor control are compromised in schizophrenia as well. The current study assessed volumes of the anterior supplementary motor area (pre-SMA) and implicit motor sequence learning in 15 subjects with first-episode schizophrenia and 15 healthy matched controls. Pre-SMA volumes were assessed by three-dimensional structural magnetic resonance imaging (3D-MRI) and manual parcellation according to an established protocol. Implicit motor sequence learning was assessed using the Serial Reaction-Time Task (SRTT). Compared with control subjects, schizophrenia subjects had significantly smaller volumes of the left pre-SMA (16%). Subjects with schizophrenia were severely impaired on sequence-specific implicit motor learning. Size of the left pre-SMA of schizophrenia subjects was significantly related to impaired implicit learning. We conclude that subjects with first-episode schizophrenia have a morphological abnormality of the left pre-SMA that might predispose them to develop disturbances of higher motor control during acute episodes of psychosis. These structural and behavioral abnormalities might be conceptualized within a broader model that views schizophrenia as a disorder of disturbed coordination of thought and action.
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PMID:Reduced size of the pre-supplementary motor cortex and impaired motor sequence learning in first-episode schizophrenia. 1662 28

Cognitive impairments have been found in thyroid hormone-related diseases (e.g. hyperthyroidism and hypothyroidism) for a long time. However, whether and how subclinical hypothyroidism (SCH) causes any deficits in brain functions, and whether a hormone-replacement treatment is necessary for SCH patients, still remain controversial subjects. In the present study, functional MRI (fMRI) was used to measure brain functions by asking euthyroid subjects, hyperthyroid patients and SCH patients to perform the widely used digit n-back working memory task. After having been treated with l-thyroxine for approximately 6 months, the SCH patients were asked to do the same fMRI experiment. The hypothyroid and SCH patients scored significantly lower in the 2-back task than either the hyperthyroid patients or the euthyroid subjects (P < 0.012). The fMRI showed that a common frontoparietal network, including bilateral middle/inferior frontal gyri (M/IFG), bilateral dorsolateral prefrontal cortex (DLPFC), bilateral premotor areas (PreMA), the supplementary motor area/anterior cingulate cortex (SMA/ACC) and bilateral parietal areas (PA), was activated by the n-back task in all the subjects. Further quantitative analysis showed that the load effect of blood oxygen level-dependent (BOLD) response appeared in all the five regions of interest (ROIs) in the euthyroid and hyperthyroid subjects. In the pre-treatment SCH patients, however, the load effect of BOLD response was only found in the PA and PreMA, but not in other frontal cortex ROIs [general linear model (GLM), F < 2.6, P > 0.1]. After an approximately 6 month treatment with LT4, the SCH patients exhibited the same load effects in all five ROIs as the euthyroid subjects (GLM, F > 6, P < 0.05) along with an improvement of performance in n-back task. These results suggest that working memory (but not other memory functions) is impaired in SCH patients, mainly as far as disorders of the frontoparietal network were concerned. Both the memory performance and frontal executive functions were improved after an l-thyroxine-replacement treatment.
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PMID:fMRI revealed neural substrate for reversible working memory dysfunction in subclinical hypothyroidism. 1692 Nov 78

fMRI is one of the most likely applications to benefit from high field MRI. It profits from the higher signal-to-noise ratio (SNR) and increased BOLD contrast itself. However, this sensitivity to susceptibility brings with it problems, e.g. in-plane dephasing and signal dropouts near tissue-air boundaries. Therefore, most fMRI studies at 7 T focus on high resolution in supratentorial areas. Nine volunteers were measured at both 1.5 and 7 T using finger tapping with fMRI in a block design fashion. An EPI sequence with short TE (28 ms at 7 T) was chosen for covering the whole brain. A CP transmit/receive head coil was used for image acquisition. Statistical analyses were performed using SPM 02. The activated images were superimposed on both individual images and a standard T1-normalized brain dataset. All cerebral areas involved in finger tapping could be revealed using 7 T: SI, MI, SII, SMA, thalamus, and cerebellar areas. At 1.5 T the activation in the thalamus was only detectable in one subject using the same corrected p value for all analyses. Furthermore, the BOLD signal change was significantly higher at 7 T than at 1.5 T (factor 2 to 3). A well fitted response curve could be detected in all sensory-motor areas at 7 T in whole-brain coverage, even in areas suffering from susceptibility like the cerebellum. Supra- and infratentorial sensory-motor areas are consistently and reliably detectable using whole-brain fMRI at 7 T with good quality response functions and, as expected, higher signal compared to 1.5 T.
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PMID:fMRI at 7 T: whole-brain coverage and signal advantages even infratentorially? 1764 14

The aim of our study was to examine the locational distribution of paraspinal structures on MRI and to determine any predictable parameters that may be used for the identification of transitional vertebra (TV). We enrolled 534 patients who underwent MRI of their lumbosacral spine. The locations of the paraspinal structures, such as aortic bifurcation (AB), IVC confluence (IC), right renal artery (RRA), celiac trunk (CT), SMA root (SR), and iliolumbar ligament (ILL), were determined using "cross link" in PACS. We also assessed the morphology of the TV. The MRI showed that the most common site of the paraspinal structures in the normal group was AB at the lower L4, IC at the L4-5 disc space, RRA at the L1-2 disc space, CT at the T12-L1 disc space, SR at the upper L1, and ILL at the L5. The frequency of TV was 23.8% (lumbarization, 9.9%; sacralization, 13.9%). The paraspinal structures of the S1 lumbarization were positioned more toward the caudal location, whereas the paraspinal structures of the L5 sacralization were positioned more toward the cephalic location (P < 0.01). In conclusion, AB, IC, RRA, CT, SR, and ILL are useful landmarks for predicting the presence of TV on MRI. TV is possible when these paraspinal structures are in positions outside of the frequent locations.
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PMID:Identification and prediction of transitional vertebrae on imaging studies: anatomical significance of paraspinal structures. 1787 7

Functional MRI (fMRI) has become one of the most commonly used neuroimaging tools to assess the cortical effects associated with rehabilitation, learning, or disease recovery in subjects with stroke. Despite this, there has been no systematic study of the reliability of the fMR signal in this population. The purpose of this study was to examine the within- and between-session reliability of fMRI in cortical and cerebellar structures in subjects with stroke during a complex, continuous visual motor task performed with the less affected hand. Nine subjects with stroke underwent four testing trials during two sessions separated by three weeks. Subjects performed a drawing task using an MRI compatible joystick while in the MRI. Methods of analysis evaluated included: percent signal intensity change, active voxel count and a voxel by voxel stat value analysis within and between testing sessions. Reliability was determined with Interclass correlation coefficients (ICC) in the following regions of interest: primary motor (M1), primary sensory (S1), premotor cortex (PMC), medial cerebellum (MCB), and lateral cerebellum (LCB). Results indicate that intensity change has superior reliability to the other methods of analysis (Average ICC across brain regions and trials: intensity change: 0.73, voxel count: 0.58, voxel by voxel: 0.67) and that generally with any analysis method, within-session reliability was higher than between-session, as indicated by higher ICC values across brain regions. Overall, when comparing between-session results, moderate to good reliability was obtained with intensity change (ICC: M1: 0.52, S1: 0.80, SMA: 0.78, PMC: 0.94, MCB: 0.86, and LCB: 0.59). These results show good reliability in subjects with stroke when performing a continuous motor task. These findings give confidence for interpreting fMRI test/retest research in subjects with stroke.
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PMID:fMRI reliability in subjects with stroke. 1806 Mar 95

A 40-year-old Asian female presented with a 2-month history of right shoulder pain and right triceps weakness. MRI revealed an extramedullary, extradural, dumbbell-shaped spinal cord tumor with C6 to C7 iso- and hyperintensity on T1 and T2 weighted imaging, respectively. Histological examination revealed monomorphous spindle cells with a storiform pattern. Immunohistochemistry was positive for CD34, CD99, and negative for EMA, SMA, and S100; solitary fibrous tumor (SFT) was confirmed.
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PMID:A dumbbell-shaped solitary fibrous tumor of the cervical spinal cord. 1830 86

The authors present a case of a 42-year-old female who developed a leiomyosarcoma of the right proximal tibia that appeared radiologically similar to a giant cell tumor Histology revealed spindle cells running in whorl-like fashion with focal atypia and low mitotic figures. The immuno-stains revealed positive reactivity for alpha-smooth muscle (SMA), muscle actin and cytokeratin (AE1/AE3). The authors rendered a diagnosis of low-grade leiomyosarcoma of bone. The lesion was considered a primary lesion since the patient did not have other leiomyomatous tumors. The MRI showed hypo- to iso- signal intensity on T1-weighted imaging and heterogeneous intensity on T2-weighted imaging. This was likely due to admixed fibrotic tissue in the lesion. The tumor cells were not positive for Ebstein-Barr virus by in-situ hybridization as seen in leiomyomatous tumors in immunodeficiency patients.
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PMID:Including MIR of a primary bone leiomyosarcoma that radiologically mimics a giant cell tumor. 1838 91


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