Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q ...Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q tel with 3-cM. The purpose of this study was to narrow down the genetical distance on chromosomal 22q tel with MLC. Methods: Thirty-nine MLC patients in 33 families were collected,and the linkage analysis and haplotype analysis of twelve informative families were done, using seven microsatellite markers and four SNP markers. Results: The maximum tow-point LOD score for marker 355c18 was 6.65 at recombination fraction 0.02. The haplotype analysis narrowed down the critical region of MLC to 250 kb on chromosomal 22q tel. Conclusion: One of the causing genes of MLC was located on chromosomal 22q tel with 250 kb. Four candidate genes were considered. The heterogeneity of one informative family indicated possible existence of a second locus for MLC.展开更多
Objective To examine whether the selectivity of visual cortical neurons to stimulus spatial frequencies would be affected by aging in cats.Methods In vivo extracellular single-unit recording techniques were employed t...Objective To examine whether the selectivity of visual cortical neurons to stimulus spatial frequencies would be affected by aging in cats.Methods In vivo extracellular single-unit recording techniques were employed to record the tuning responses of V1 neurons to different stimulus spatial frequencies in old and young adult cats.Results Statistical analysis showed that the mean optimal spatial frequency of grating stimuli that evoked the maximal response of V1 neurons in old cats was significantly lower than that in young adult cats.Furthermore,the mean high cut-off spatial frequency of grating stimuli that evoked the half amplitude of the maximal response of V1 neurons in old cats was also significantly lower than that in young adult cats.Conclusion These results are consistent with those reported in the V1 of old monkeys,suggesting that the age-related decline in the selectivity of visual cortical cells to spatial frequency could be generalized to all mammalian species and might contribute to visual acuity reduction in senescent individuals.展开更多
文摘Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q tel with 3-cM. The purpose of this study was to narrow down the genetical distance on chromosomal 22q tel with MLC. Methods: Thirty-nine MLC patients in 33 families were collected,and the linkage analysis and haplotype analysis of twelve informative families were done, using seven microsatellite markers and four SNP markers. Results: The maximum tow-point LOD score for marker 355c18 was 6.65 at recombination fraction 0.02. The haplotype analysis narrowed down the critical region of MLC to 250 kb on chromosomal 22q tel. Conclusion: One of the causing genes of MLC was located on chromosomal 22q tel with 250 kb. Four candidate genes were considered. The heterogeneity of one informative family indicated possible existence of a second locus for MLC.
基金supported by Natural Science Foundation of Anhui Province(No. 070413138)the Key Research Foundation of Education Department of Anhui Province,China(No. KJ2009A167)
文摘Objective To examine whether the selectivity of visual cortical neurons to stimulus spatial frequencies would be affected by aging in cats.Methods In vivo extracellular single-unit recording techniques were employed to record the tuning responses of V1 neurons to different stimulus spatial frequencies in old and young adult cats.Results Statistical analysis showed that the mean optimal spatial frequency of grating stimuli that evoked the maximal response of V1 neurons in old cats was significantly lower than that in young adult cats.Furthermore,the mean high cut-off spatial frequency of grating stimuli that evoked the half amplitude of the maximal response of V1 neurons in old cats was also significantly lower than that in young adult cats.Conclusion These results are consistent with those reported in the V1 of old monkeys,suggesting that the age-related decline in the selectivity of visual cortical cells to spatial frequency could be generalized to all mammalian species and might contribute to visual acuity reduction in senescent individuals.
