geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Molecular basis of heterogeneities of clinical presentation of dentatorubral pallidoluysian atrophy (DRPLA)


, : Molecular basis of heterogeneities of clinical presentation of dentatorubral pallidoluysian atrophy (DRPLA). Rinsho Shinkeigaku 34(12): 1227-1229

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder affecting primarily dentatorubral as well as pallidoluysian atrophy. From a view point of clinical genetics, DRPLA is characterized by prominent anticipation and considerable heterogeneities in its clinical manifestations. Given the fact that unstable CAG repeat expansion is the causative genes for Huntington disease and spinocerebellar ataxia 1, in which anticipation and parental bias of transmission of the severest form are present, we hypothesized that DRPLA might be caused by unstable expansion of a gene containing a CAG repeat. By screening published genes containing CAG repeats, were able to identify the gene for DRPLA located on the chromosome 12. All the DRPLA patients had expanded CAG repeats, and furthermore, there is a good correlation between the degree of CAG repeat expansions and the ages of onset. There are also good correlation in the ages of onset of each of the neurological of manifestations including myoclonus, choreoathetosis, epilepsy, dementia, and psychiatric symptoms. We concluded that the unstable expansion of the CAG repeat in the DRPLA gene is intimately involved in the pathogenesis of DRPLA.

US$29.90

PMID: 7774119


Other references

Matsumoto, A.M., 2006: Fundamental aspects of hypogonadism in the aging male. With aging in men, serum testosterone levels decline progressively and the prevalence of hypogonadism increases; these changes are associated with alterations in androgen-regulated physiological functions. In young hypogonadal men, similar alterat...

Amran Waheed; Shahid Mahmud; Muhammad Saleem, 2001: Activity of lipase and phospholipase extracted from the seed meal of Nicotiana tabacum L. A study was conducted to establish the optimum conditions for the hydrolysis of simple triacylglycerols and phosphoglycerides by lipase [triacylglycerol lipase] and phospholipases extracted from mature seeds of N. tabacum. Both lipase and phosphol...

Young, T-L.; Gordon, R.; Cornect, M., 1987: Effects of several insect growth regulators on egg hatch and subsequent development in the cabbage maggot Delia radicum (L.) (Diptera: Anthomyiidae). Eggs of Delia radicum 24-28 h old were treated with the same doses of 4 insect growth regulators. Diflubenzuron significantly reduced egg hatch as compared with untreated and solvent-treated controls. Methoprene had a delayed effect, preventing ha...

Zhuravel', P.A., 1962: Enrichment of the fauna of water reservoirs. Polychaeta, Cumacea, Amphipoda, and Mysida have been introduced into artificial water reservoirs of the southern USSR from the estuaries (limans) of southern rivers to provide food for fish. Oligochaeta and some freshwater snails have been introdu...

E.Shazly N.Z., 1972: Effects of external factors on the defence reactions of neomyzus circumflexus homoptera aphididae. Zeitschrift fuer Angewandte Entomologie 70(4): 414-436

Swiderski, A.; Bak, S., 1957: Surface thermometer for the measurement of skin temperature in pathological changes of the lower extremity. Polski Przeglad Chirurgiczny 29(1): 63-68

Dolabela, M.F.; Pereira, M.T.; Salas, C.E.; Steffani, G.M.; Nelson, D.L.; Pilo Veloso, D.; Lopes, M.T.P., 1997: The radioprotective effect of aminothiol 38-PHE. FASEB Journal 11(9): A1389

McDONALD.J.E.; LIGHT.A., 1958: Photocoagulation of iris and retina. A.M.A. Archives of Ophthalmology 60(3): 384-392

Utech, F.H., 1978: Somatic karyotype analysis of uvularia floridana liliaceae. This, the 1st investigation of the somatic karyotype of U. floridana, was based on 200 cells from 2 clones and has shown a stabilized 2n = 12 number which differs from the 2n = 14 counts that characterize the other species of Uvularia. This 2n = 1...

Biron, P., 1970: Prostaglandins: oxytocic, luteolytic and bronchodilatory action. L'union Medicale du Canada 99(2): 246-247