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排序方式: 共有335条查询结果,搜索用时 15 毫秒
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Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families 总被引:2,自引:0,他引:2
A. Filla G. De Michele L. Santoro O. Calabrese I. Castaldo S. Giuffrida D. Restivo L. Serlenga D. F. Condorelli U. Bonuccelli R. Scala G. Coppola G. Caruso S. Cocozza 《Journal of neurology》1999,246(6):467-471
Autosomal dominant cerebellar ataxia type I is the most common form of dominant ataxia. A genetic heterogeneity has been identified with five different loci (SCA1, 2, 3, 4, and 6). A pathological expansion of a CAG sequence has been identified in SCA1, 2, 3, and 6. We performed molecular analysis in 51 families with autosomal dominant cerebellar ataxia type I, mainly originating from southern Italy and Sicily. Thirty families carry an expanded CAG sequence within SCA2 gene. The mean number of repeats was 39.9 ± 3.3 in 85 expanded alleles, with a range of 34–52. The number of triplets was inversely correlated with age at onset and explained 76% of the variance. The best fit was obtained with an exponential relationship between variables. Expanded alleles were unstable when transmitted from parents to offspring. Expansions were more common than contractions, accounting for 59% of the total meioses and for 80% of the father-child transmissions. The mean intergenerational variation was 1.9 repeats (range –3 to +15) with higher values for male transmissions. Bulbar and autonomic signs were related to disease duration, pyramidal signs to CAG size, cerebellar features and peripheral neuropathy to both. Among the remaining 21 families, three carried the SCA1 and one the SCA6 mutation. This study suggests that SCA2 is the prevalent mutation in southern Italy. Received: 24 November 1997 Received in revised form: 26 October 1998 Accepted: 8 November 1998 相似文献
334.
Attilio Restivo MD Alessio Stanzione MD Diego Maffeo MD Andrea Buono MD 《Catheterization and cardiovascular interventions》2023,102(5):889-891
Undeployed stent loss is a rare but potentially serious complication of percutaneous coronary intervention. Its management is not assisted by well-defined guidelines, and it is made even more difficult when the dislodged stent is not protected by in situ guidewire. In this work, we present the case of a total stent loss with a crushed device protruding out of the left main. In this hopeless circumstance, an innovative ping-pong technique was used to contralaterally perform a successful stent retrieval. 相似文献
335.
Domenico D'Amario David Meerkin Attilio Restivo Hüseyin Ince Horst Sievert Andrea Wiese Ulrich Schaefer Carlo Trani Antoni Bayes-Genis Francisco Leyva Zachary I. Whinnett Carlo Di Mario Michael Jonas Habib Manhal Ignacio J. Amat-Santos Maria Del Trigo Tuvia Ben Gal Binyamin Ben Avraham Tal Hasin Sebastian Feickert Giuseppe D'Ancona Omar Abdul-Jawad Altisent Oran Koren Oren Caspi William T. Abraham Filippo Crea Stefan D. Anker Ran Kornowski Leor Perl the VECTOR-HF Trial Investigators 《European journal of heart failure》2023,25(6):902-911