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This book has been created for patients who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells patients where and how to look for information covering virtually all topics related to machado-joseph disease (also Autosomal Dominant Spinocerebellar Degeneration; Azorean Neurologic Disease; Machado Disease; Machado-Joseph Disease; Nigrospinodentatal Degeneration; Spinocerebellar Ataxia Type III), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on machado-joseph disease. Given patients' increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard-copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. In addition to extensive references accessible via the Internet, chapters include glossaries of technical or uncommon terms. ... Read more

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High Quality Content by WIKIPEDIA articles! Machado-Joseph disease or Spinocerebellar ataxia type 3 is an extremely rare hereditary ataxia, which means a lack of muscle control. It is caused by a certain mutation that results in degeneration of cells in the hindbrain. Some symptoms, such as clumsiness and rigidity, make MJD commonly mistaken for drunkenness and/or Parkinson's disease. Machado-Joseph disease is a type of spinocerebellar ataxia that causes ophthalmoplegia and mixed sensory and cerebellar ataxia. The disease was first identified in 1972. Unlike many other medical conditions, Machado-Joseph disease isn't named after researchers. It is named after two men who were the patriarchs of the families in which the condition was initially described. ... Read more

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This digital document is an article from Human Biology, published by Wayne State University Press on December 1, 1998. The length of the article is 4919 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

From the author: Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of adult onset. In the islands of the Azores (Portugal), MJD reaches the highest prevalence reported worldwide. It has been postulated that it is highly represented in the Azorean population as a result of a founder effect. To test this hypothesis, we reconstructed the ascending genealogies of the 32 Azorean families presently identified as harboring the disease (103 patients), using parish records as the main source of data. These patients were originally from the islands of Sao Miguel, Terceira, Graciosa, and Flores. The genealogies of the two main Azorean American families (Machado and Joseph) were also reconstructed. To identify the links between the MJD families, we calculated the kinship coefficient between the proponents of these genealogies. The family from Terceira was linked to three different MJD families from Flores through common ancestors. No kinship was observed between the MJD families from Silo Miguel and families from any other island. Links between the two Azorean American families and Azorean MJD families were found. The founders present in more than one ascendance were identified. Their chronological and geographic distribution indicates that more than one MJD mutation was introduced in the Azores, probably by settlers coming from the Portuguese mainland. The molecular evidence to date corroborates these results, because two distinct haplotypes have been established, one on the island of Sao Miguel and the other on Flores. Therefore molecular biology studies confirm the accuracy of the conclusions drawn from the genealogical evidence supporting the absence of a founder effect for MJD in the Azorean population.

Citation Details
Title: Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).
Author: Manuela Lima
Publication: Human Biology (Refereed)
Date: December 1, 1998
Publisher: Wayne State University Press
Volume: 70Issue: 6Page: 1011(1)

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Targeted to patients, their families and allied health students, The “Gale Encyclopedia of Neurological Disorders” provides in-depth coverage of neurological diseases and disorders, including stroke, multiple sclerosis, Parkinson disease, Tourette Syndrome, Alzheimer's disease, cerebral palsy, vertigo, amnesia and epilepsy. Related topics include communication aids, electric personal assistive mobility devices, medications for treating neurological diseases and conditions, understanding the needs of Alzheimer patient caregivers and more. This two-volume set provides an alternative to resources that either fail to explore neurological disease in any depth and or do so at a level not appropriate for students and general readers.

Product Description
This digital document is an article from Human Biology, published by Wayne State University Press on June 1, 1997. The length of the article is 2564 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

From the author: KEY WORDS: MACHADO-JOSEPH DISEASE, AZORES, EPIDEMIOLOGY, FOUNDER EFFECT

Citation Details
Title: Prevalence, geographic distribution, and genealogical investigations of Machado-Joseph disease in the Azores (Portugal).
Author: Manuela Lima
Publication: Human Biology (Refereed)
Date: June 1, 1997
Publisher: Wayne State University Press
Volume: v69Issue: n3Page: p383(9)

Distributed by Thomson Gale ... Read more