85 research outputs found
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia:
BACKGROUND: The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical patterns such as Partington syndrome, the consequence of this mutation has been also often classified as "non-specific Intellectual Disability". The present work aims at a more precise description of the clinical features linked to the c.429_452dup24 mutation. METHODS: We clinically reviewed all affected patients identified in France over a five-year period, i.e. 27 patients from 12 different families. Detailed cognitive, behavioural, and motor evaluation, as well as standardized videotaped assessments of oro-lingual and gestural praxis, were performed. In a sub-group of 13 ARX patients, kinematic and MRI studies were further accomplished to better characterize the motor impairment prevalent in the ARX patients group. To ensure that data were specific to the ARX gene mutation and did not result from low-cognitive functioning per se, a group of 27 age- and IQ-matched Down syndrome patients served as control. RESULTS: Neuropsychological and motor assessment indicated that the c.429_452dup24 mutation constitutes a recognizable clinical syndrome: ARX patients exhibiting Intellectual Disability, without primary motor impairment, but with a very specific upper limb distal motor apraxia associated with a pathognomonic hand-grip. Patients affected with the so-called Partington syndrome, which involves major hand dystonia and orolingual apraxia, exhibit the most severe symptoms of the disorder. The particular "reach and grip" impairment which was observed in all ARX patients, but not in Down syndrome patients, was further characterized by the kinematic data: (i) loss of preference for the index finger when gripping an object, (ii) major impairment of fourth finger deftness, and (iii) a lack of pronation movements. This lack of distal movement coordination exhibited by ARX patients is associated with the loss of independent digital dexterity and is similar to the distortion of individual finger movements and posture observed in Limb Kinetic Apraxia. CONCLUSION: These findings suggest that the ARX c.429_452dup24 mutation may be a developmental model for Limb Kinetic Apraxia
Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains
Micromechanical modeling of crack propagation for snow slab avalanche release. Workshop: Accounting for phase transitions in granular media: from micromechanics to macroscopic unified modeling
Factory: A microcomputer program for simulation of production lines as a versatile tool for psychological experiments
Effect of diets with different magnesium content in ischemic stroke rats.
International audienceRats fed with low (0.015%), normal (0.08%) or high (0.32%) magnesium (Mg) diet for 5-6 weeks were subjected to photothrombosis-induced infarction. As compared to normal diet, Mg deprivation increased by 45% infarct volume at 24 h after photothrombosis but did not modify the lesion at 4 h after photothrombosis. Mg supplementation did not protect from infarction whatever the time point examined. No differences in pre-ischemic systolic blood pressure and glycemia as well as in post-ischemic kaliemia, calcemia and plasma antioxidant activity were observed between groups. However, plasma total Mg level correlated with plasma antioxidant activity at 4 h after photothrombosis. These results demonstrate that brains from Mg deficient rats are more susceptible to permanent focal ischemia than rats fed with normal or high Mg diet
Transformations of soil macroinvertebrate populations after native vegetation conversion to pasture cultivation (Brazilia Cerrado)
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