共查询到20条相似文献,搜索用时 31 毫秒
1.
I recall it as vividly as though it had occurred but yesterday. It made a most enduring impression upon my boyish mind which was my very first impulse to choosing chorea as my virgin contribution to medical lore. Driving with my father through a wooded road leading from East Hampton to Amagansett we suddenly came upon two women, mother and daughter, both tall and thin, almost cadaverous, both bowing, twisting, grimacing. I stared in wonderment, almost in fear. What could it mean? My father paused to speak with them and we passed on. Then my Gamaliel-like instruction began; my medical education had its inception. From this point on, my interest in the disease has never wholly ceased. [George Huntington, at 59, recalling how at the age of 8 years he first saw Huntington disease while traveling with his physician father on his professional rounds in 1858]. 相似文献
2.
G. C. Beverstock 《Human genetics》1984,66(2-3):115-131
Summary Huntington disease is a neurological autosomal dominant disease of unknown origin and the search for a suitable diagnostic marker has been extended to the peripheral tissues. It is generally believed that a membrane defect exists in Huntington disease although the evidence is controversial. It is the aim of this review to examine the validity of these claims for each of the peripheral tissues and techniques involved, and it is not intended to include all other aspects of research into Huntington disease. 相似文献
3.
Huntington disease is caused by polyglutamine expansion in huntingtin, a 350 kD protein that is ubiquitously expressed and widely distributed at the subcellular level. Recently, Kaltenbach et al. identified a large collection of novel huntingtin-interacting proteins, several of which modify mutant huntingtin toxicity in Drosophila. Thus, the interaction of mutant huntingtin with certain protein partners can influence its toxicity and therefore the severity and/or progression of Huntington disease. 相似文献
4.
Juvenile Huntington disease 总被引:4,自引:0,他引:4
5.
S E Folstein G A Chase W E Wahl A M McDonnell M F Folstein 《American journal of human genetics》1987,41(2):168-179
In a Maryland survey of Huntington disease, the prevalence in blacks was unexpectedly high and equal to that in whites. Age at onset was earlier in blacks, and their clinical features, at all ages at onset, were similar to those seen in juvenile-onset Huntington disease. Blacks had more severe bradykinesia and abnormalities of eye movement and less frequent psychiatric disorder, particularly depression. 相似文献
6.
Bates GP 《Nature reviews. Genetics》2005,6(10):766-773
The Huntington disease gene was mapped to human chromosome 4p in 1983 and 10 years later the pathogenic mutation was identified as a CAG-repeat expansion. Our current understanding of the molecular pathogenesis of Huntington disease could never have been achieved without the recent progress in the field of molecular genetics. We are now equipped with powerful genetic models that continue to uncover new aspects of the pathogenesis of Huntington disease and will be instrumental for the development of therapeutic approaches for this disease. 相似文献
7.
U G Froster-Iskenius M R Hayden H S Wang D K Kalousek D Horsman R A Pfeiffer A Schottky E Schwinger 《American journal of human genetics》1986,38(5):759-767
We report the clinical and cytogenetic findings in a family in which a balanced reciprocal translocation between the long arm of chromosome 4 and the short arm of chromosome 5 is segregating together with Huntington disease in 2 generations. In situ hybridization studies revealed that the linked human DNA marker is located on the short arm of the normal and translocated chromosome 4 in the region 4p16. The association between Huntington disease and the translocation in this family may represent a chance occurrence. However, it is also possible that there is an undetected rearrangement of DNA on chromosome 4 involving the gene for Huntington disease but not affecting the site of the linked marker. Finally, the likelihood that this represents heterogeneity cannot be excluded. 相似文献
8.
Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease 总被引:23,自引:0,他引:23
Tanaka M Machida Y Niu S Ikeda T Jana NR Doi H Kurosawa M Nekooki M Nukina N 《Nature medicine》2004,10(2):148-154
Inhibition of polyglutamine-induced protein aggregation could provide treatment options for polyglutamine diseases such as Huntington disease. Here we showed through in vitro screening studies that various disaccharides can inhibit polyglutamine-mediated protein aggregation. We also found that various disaccharides reduced polyglutamine aggregates and increased survival in a cellular model of Huntington disease. Oral administration of trehalose, the most effective of these disaccharides, decreased polyglutamine aggregates in cerebrum and liver, improved motor dysfunction and extended lifespan in a transgenic mouse model of Huntington disease. We suggest that these beneficial effects are the result of trehalose binding to expanded polyglutamines and stabilizing the partially unfolded polyglutamine-containing protein. Lack of toxicity and high solubility, coupled with efficacy upon oral administration, make trehalose promising as a therapeutic drug or lead compound for the treatment of polyglutamine diseases. The saccharide-polyglutamine interaction identified here thus provides a new therapeutic strategy for polyglutamine diseases. 相似文献
9.
Ira Mellman 《The Journal of cell biology》2008,183(3):365
On October 7, 2008, the world lost one of the most influential scientists of the 20th century, and modern cell biology lost its founder. George E. Palade, recipient of the Nobel Prize in 1974 for his work that established our basic understanding of cellular organization, died at the age of 95 after a long illness. 相似文献
10.
The interaction of the inhibitory neurotransmitter γ-aminobutyric acid (GABA) with erythrocyte membranes from patients with Huntington disease and normal controls has been studied by electron spin resonance. GABA affects the physical state of erythrocyte membrane proteins in control and Huntington disease differently. In addition, after exposure of spin-labeled Huntington disease erythrocyte membranes to 0.1 mM GABA, the relevant electron spin resonance parameters reflecting the physical state of membrane proteins are indistinguishable from those of untreated control membranes. These findings support the concept that this disease is associated with a generalized membrane defect. 相似文献
11.
R H Myers J Leavitt L A Farrer J Jagadeesh H McFarlane C A Mastromauro R J Mark J F Gusella 《American journal of human genetics》1989,45(4):615-618
Four offspring of three different Huntington disease (HD) affected x affected matings were assessed by genetic linkage analysis for possible homozygosity. One individual was found to have a 95% likelihood of being an HD homozygote. The homozygote individual had an age at onset and symptoms which were similar to those of affected HD heterozygote relatives, including some with younger onset. This confirms the observation of Wexler et al. that in HD the homozygote is not more severely afflicted than the heterozygote. 相似文献
12.
Transcriptional abnormalities in Huntington disease 总被引:30,自引:0,他引:30
13.
The data are presented on prevalence and clinical patterns of Huntington disease in Shamkhor region of Azerbaijan, where about 126.8 thousand inhabitants live. Population, demographic and genealogical data show that high prevalence of Huntington disease in that region is determined by the founder effects, reinforced later by extended reproduction of the population. Linkage analysis using the affected sib-pair method failed to reveal a linkage between Huntington's chorea locus and HLA, AB0, MN systems. Significant probability of linkage to Huntington's chorea locus was calculated for Gc marker. 相似文献
14.
The seaweed flora of Admiralty Bay,King George Island,Antarctic 总被引:1,自引:0,他引:1
Eurico C. Oliveira Theresinha M. Absher Franciane M. Pellizzari Mariana C. Oliveira 《Polar Biology》2009,32(11):1639-1647
Admiralty Bay is located on the western side of King George Island. Although several research teams of different nationalities
have carried out surveys in the region for decades, there are only two publications dealing with the seaweed flora of the
bay. Here, we report on a taxonomic survey of the seaweeds we collected during the 25th Brazilian Antarctic Expedition (December
2006/November 2007). We discovered 42 species (21 Rhodophyta, 14 Phaeophyceae, and 7 Chlorophyta), corresponding to an increase
of about 31% in the seaweed biodiversity hitherto known for the region. Considering that the Antarctic Peninsula, adjacent
to King George Island seems to be one of the most rapidly warming spots on the planet, this kind of survey may provide a valuable
tool for detecting eventual changes in seaweed biodiversity. 相似文献
15.
Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease 总被引:39,自引:0,他引:39
Chen M Ona VO Li M Ferrante RJ Fink KB Zhu S Bian J Guo L Farrell LA Hersch SM Hobbs W Vonsattel JP Cha JH Friedlander RM 《Nature medicine》2000,6(7):797-801
16.
Elina Ikonen Jaakko Ignatius Reijo Norio Jorma Palo Leena Peltonen 《Human genetics》1992,89(3):275-280
Summary Huntington disease (HD) is found at exceptionally low frequency in the Finnish population. In this population, linkage disequilibrium was earlier established with markers from the D4S10 and D4S43 loci. We now report a continuation to the restriction fragment length polymorphism haplotype analysis, in combination with a genealogical study of all the Finnish HD families. When the HD pedigrees were systematically traced to the 18th century, only one consanguinity was found, and a high percentage (28%) of the families had foreign ancestors. The majority of the Finnish ancestors were localized to border regions or trade centers of the country following the old postal routes. The observed high risk haplotypes formed with markers from the D4S10 and D4S43 loci were evenly distributed among the HD families in different geographical locations. Consequently, the HD gene(s) has most probably arrived in Finland on several occasions via foreign immigrants during the last few centuries. 相似文献
17.
Dr. H.P. Nguyen M.D. 《Medizinische Genetik》2013,25(2):221-227
Huntington disease (HD) is the main cause for hereditary chorea and is characterized by the clinical triad of motor abnormalities, psychiatric symptoms and cognitive decline. Several other genetic disorders, named Huntington disease-like (HDL) syndromes, are known to present with an HD phenotype, and it is difficult to distinguish them from HD. These rare diseases have been named HDL1 to HDL4 and pathogenic mutations in the PRNP gene have been identified for HDL1, whereas mutations in the JPH3 gene cause HDL2 and mutations in the TBP gene cause HDL4 (SCA17). Furthermore, a multitude of diseases can present with a HD phenotype, although other symptoms are usually predominant. These disorders (e.g. SCA, DRPLA, neuroferritinopathy, chorea-acanthocytosis, benign chorea) have to be considered in the differential diagnoses if an HD mutation cannot be confirmed in an index patient with characteristic HD symptoms. In this article an overview of the main disorders that can present with an HD phenotype are given. Diagnostic indicators that may help with the differential diagnosis are also highlighted. 相似文献
18.
P S Harper 《American journal of human genetics》1992,50(3):460-464
Huntington disease, one of the longest established and most serious human genetic disorders, has been the subject of considerable abuse during the present century in relation to the application of genetic knowledge, most notably in Nazi Germany but also in other countries. This disorder provides a valuable example of how abuses in the past need to be recognized and confronted, if we are to avoid their recurrence in relation to new molecular and computing techniques in genetics. 相似文献
19.
Russell G. Snell Leslie M. Thompson Danilo A. Tagle Tracey L. Holloway Glenn Barnes Helen G. Harley Lodewijk A. Sandkuijl Marcy E. MacDonald Francis S. Collins James F. Gusella Peter S. Harper Duncan J. Shaw 《American journal of human genetics》1992,51(2):357-362
We report both a recombination event that places the Huntington disease gene proximal to the marker D4S98 and an extended linkage-disequilibrium study that uses this marker and confirms the existence of disequilibrium between it and the HD locus. We also report the cloning of other sequences in the region around D4S98, including a new polymorphic marker R10 and conserved sequences that identify a gene in the region of interest. 相似文献
20.
Samuel Frank 《BMC neurology》2009,9(1):62-10