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)

Scapuloperoneal (SP) syndromes are heterogeneous neuromuscular disorders which are characterized by weakness in the distribution of shoulder girdle and peroneal muscles. SP syndromes can resemble facioscapulohumeral muscular dystrophy (FSH) due to scapular weakness or Charcot-Marie-Tooth disease (CMT) due to atrophy of peroneal muscles. Both neurogenic and myopathic SP syndromes have been described. Locus for the myopathic form of SP syndrome (scapuloperoneal muscular dystrophy, SPMD) has recently been assigned to chromosome 12q. We previously described a large New England kindred exhibiting an autosomal dominant neurogenic SP syndrome (scapuloperoneal spinal muscular atrophy, SPSMA). Disease expression was more severe and progressive in successive generations, which suggested genetic anticipation. We performed genetic linkage analysis of this family with microsatellite markers and excluded the loci for FSH, CMT, SPMD and SMA (spinal muscular atrophy) in our family. Linkage in our SPSMA family (lod score > 3) was established to seven microsatellite markers that map to chromosome 12q24.1-q24.31. The highest lod score with two-point linkage analysis was 6.67 (theta = 0.00) with marker D12S353. Multipoint analysis gave maximum lod scores of 7.38 between D12S354 and D12S79, and also 7.38 between D12S369 and NOS1 (neuronal nitric oxide synthase). The gene for SPSMA lies within the 19 cM interval between D12S338 and D12S366. This report establishes a locus for the neurogenic form of SP syndrome approximately 20 cM telomeric to the one described for the myopathic form of SP syndrome.
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PMID:Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. 887 81

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

A link between perception of time and spatial change is particularly revealed in dynamic conditions. By fMRI, we identified regional segregation as well as overlap in activations related to spatial and temporal processing. Using spatial and temporal anticipation concerning movements of a ball provided a balanced paradigm for contrasting spatial and temporal conditions. In addition, momentary judgments were assessed. Subjects watched a monitor-display with a moving ball that repeatedly disappeared. Ordered in 4 conditions, they indicated either where or when the ball would hit the screen bottom, where it actually disappeared or what its speed was. Analysis with SPM showed posterior parietal activations related to both spatial- and temporal predictions. After directly contrasting these two conditions, parietal activations remained robust in spatial prediction but virtually disappeared in temporal prediction, while additional left cerebellar-right prefrontal and pre-SMA activations in temporal prediction remained unchanged. Speed contrasted to the location of disappearance showed similar parietal decrease with maintained cerebellar-prefrontal activations, but also increased caudate activation. From these results we inferred that parietal-based spatial information was a prerequisite for temporal processing, while prefrontal-cerebellar activations subsequently reflected working memory and feedforward processing for the assessment of differences between past and future spatial states. We propose that a temporal component was extracted from speed, i.e. approximated momentary time, which demarcated minimal intervals of spatial change (defined by neuronal processing time). The caudate association with such interval demarcation provided an argument to integrate concepts of space-referenced time processing and a clock-like processing model.
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PMID:Cerebral representations of space and time. 1895 84

Hemodynamic response to motor execution (ME) and motor imagery (MI) was investigated using functional near-infrared spectroscopy (fNIRS). We used a 31 channel fNIRS system which allows non-invasive monitoring of cerebral oxygenation changes induced by cortical activation. Sixteen healthy subjects (mean-age 24.5 yeas) were recruited and the changes in concentration of hemoglobin were examined during right and left hand finger tapping tasks and kinesthetic MI. To suppress the systemic physiological interference, we developed a preprocessing procedure which prevents over-activated reporting in NIRS-SPM. In the condition of ME, more activation was observed in the anterior part of the motor cortex including the pre-motor and supplementary motor area (pre-motor and SMA), primary motor cortex (M1) and somatosensory motor cortex (SMC; t(15) > 2.27), however, in the condition of MI, more activation was found in the posterior part of motor cortex including SMC (t(15) > 1.81), which is in line with previous observations with functional magnetic resonance imaging (fMRI).
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PMID:Suppressing Systemic Interference in fNIRS Monitoring of the Hemodynamic Cortical Response to Motor Execution and Imagery. 2955 84