RESUMEN
Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigree from France: We collected 15 Charcot-Marie-Tooth (CMT) pedigrees from France. DNA polymorphisms analysis by Southern blotting with probes at the D17S122 locus demonstrated 17p duplication in three CMT1a families and in one sporadic case. Two families affected by CMT2 showed no evidence of the duplication.
Asunto(s)
Enfermedad de Charcot-Marie-Tooth/genética , Aberraciones Cromosómicas/genética , Sondas de ADN , Southern Blotting , Enfermedad de Charcot-Marie-Tooth/clasificación , Trastornos de los Cromosomas , Cromosomas Humanos Par 17 , Consanguinidad , Femenino , Francia , Genes Dominantes/genética , Humanos , Masculino , LinajeRESUMEN
The objective of this study was to analyse stabilized gait disorders in newly diagnozed Parkinson patients using an accelerometric device, which had been previously validated for human locomotion analysis (Auvinet et al., 1999), and to compare Parkinson's gait variables with those obtained in a matched normal population (same gender, age, height and weight). The patient group included 22 subjects (women: 9, men: 13; age: 69+/-9 y; height: 164+/-9 cm; weight: 71+/-15 kg) with motor score from 4 to 59 (mean: 23.5+/-3.0). Gait analysis system included two accelerometers held over the middle of the low back by means of a semi-elastic belt, cranio-caudal and side to side accelerations were recorded at a frequency of 50 Hz. Subjects were asked to walk at their own speed along a straight 40 meter long corridor. A 20 second period of stabilized walking was used to calculate stride frequency, step symmetry, stride regularity and cranio-caudal activity (related to hypokinesia). The walking speed was measured with an electronic stop watch. Parkinson's gait was characterized by a reduction of walking velocity (p<0.0001) which was explained by reduction of stride frequency (p<0.001) and step length (p<0.001), but mainly we noticed a reduction of walking regularity (p<0.0001) and of the cranio-caudal activity (p<0.0001). These two last variables were strongly correlated to the motor score ((r=-0.59 (p<0.01); r=-0.65 (p<0.003), respectively)). In conclusion regularity and cranio-caudal activity appeared as the most interesting variables to characterize stabilized Parkinson's gait.