61. Karger Publishers Living with machadojoseph disease in a Small Rural Community of the Tagus Valley Constança Paúl a,b , Ignacio Martín a , Maria do Rosário Silva e , Mário http://content.karger.com/ProdukteDB/produkte.asp?Doi=16211

62. The Theme Of The Research In This Lab Is The Development Of Animal And Cellular The first main subject of our study is machadojoseph disease, an autosomal dominant neurological disease with a variable clinical presentation, that begins http://ecs2002.ecsaude.uminho.pt/postgrad/2004/gn/P-Maciel_description.htm

Patrícia Maciel The theme of research in my group is the development of animal and cellular models for the molecular study of neurodegenerative disease and neuronal dysfunction The first main subject of our study is Machado-Joseph disease , an autosomal dominant neurological disease with a variable clinical presentation, that begins usually in the adult age and is characterized by spinocerebellar ataxia, limitations of eye movements and variable pyramidal signs, which can be associated with rigidity, in early-onset cases, or with amyotrophy , when the disease starts later in life. Specific groups of neurons degenerate in this disorder, in spite of a widespread expression of its causative gene, . The mutation that causes the disease is of a novel type: the expansion of a CAG tract in the coding region of the gene, leading to the synthesis of an expanded polyglutamine tract in the protein, ataxin-3. The expanded polyglutamine appears to have toxic properties, leading to neuronal dysfunction and death through yet unknown mechanisms. The reason why only specific groups of neurons are affected is also not understood. Specific protein-protein interactions may provide a key to this question, but this and other explanations remain to be explored. The normal function of the gene and ataxin-3 in the cell are not known, and the known homologues of this protein in other species are also novel proteins of unknown function. We are using a Functional Genomics approach to study the function of ataxin-3 in different model organisms; transgenic models of MJD are also being studied in order to clarify the mechanism through which

63. Genetic Disorders: Machado-Joseph Offers education, medical referrals, updates, and support to all individuals interested in machado-joseph disease. Machado Joseph Disease. http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Ma

Genetic Disorders: Machado-Joseph Home Health Conditions and Diseases Genetic Disorders : Machado-Joseph google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000'; Standard Listings International Joseph Disease Foundation Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease. Machado Joseph Disease Origins of the disease and the Jewish connection. Symptoms, diagnosis, ongoing rsearch information, and resources. Machado-Joseph Disease Fact Sheet Developed by the National Institute of Neurological Disorders and Stroke (NINDS). Machado-Joseph Information A definition of joseph disease with a look at the symptoms, diagnosis, how it is inherited and research. MJD Fact Sheet In depth look at machado-joseph disease with some resources for further reading. MJD: Getting Help Information about machado-joseph disease, genetic counselling, access to medical care and improving life quality.

64. ATAXIA SOUTH AFRICA machadojoseph disease (also called spinocerebellar ataxia type 3). What is machado-joseph disease? machado-joseph disease (MJD)-also http://groups.msn.com/ATAXIASOUTHAFRICA/machadojosephdisease.msnw

var nEditorialCatId = 102; MSN Home My MSN Hotmail Shopping ... Money Web Search: document.write(''); Groups Groups Home My Groups Language ... Help ATAXIA SOUTH AFRICA ATAXIASOUTHAFRICA@groups.msn.com What's New Join Now General Message Boards ... Tools Machado-Joseph Disease (also called spinocerebellar ataxia type 3) What is Machado-Joseph Disease? Is there any treatment? MJD is incurable, but some symptoms of the disease can be treated. For those patients who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Physiotherapy can help patients cope with disability associated with gait problems, and physical aids, such as walkers and wheelchairs, can assist the patient with everyday activities. Other problems, such as sleep disturbances, cramps, and urinary dysfunction, can be treated with medications and medical care. What is the prognosis? The severity of the disease is related to the age of onset, with earlier onset associated with a more severe form of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is also a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. For those who die early from the disease, the cause of death is often aspiration pneumonia. What research is being done?

65. CAG Expansions In A Novel Gene For Machado-Joseph Disease At Chromosome 14q32.1 CAG Expansions in a Novel Gene for machadojoseph disease at Chromosome 14q32.1. Akira Kakizuka. Department of Pharmacology, Kyoto http://www.genome.ad.jp/manuscripts/France_Japan/abstract/FJBGW9412.html

CAG Expansions in a Novel Gene for Machado-Joseph Disease at Chromosome 14q32.1 Akira Kakizuka Department of Pharmacology, Kyoto University Faculty of Medicine, Kyoto 606, Japan. FJBGW9412 (The First France-Japan Bilateral Genome Workshop, 1994)

66. ORPHANET - Rare Diseases - Orphan Drugs Printing version, DISEASE Autosomal dominant spinocerebellar ataxia, Synonym(s) machadojoseph disease, Included disease(s) Autosomal http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=99

67. Healthfinder® — Machado-Joseph Disease Fact Sheet machadojoseph disease Fact Sheet. internet URL. description. machado-joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=7220&lang=1

68. 2372: Genomic Structure Of The Human Machado-Joseph Disease (MJD/SCA3) Locus On Program Nr 2372 Genomic Structure of the Human machadojoseph disease (MJD/SCA3) Locus on Chromosome 14q32.1. C. Sell, C. Cemal, S. Chamberlain. http://www.faseb.org/genetics/ashg99/f2372.htm

Program Nr: 2372 Genomic Structure of the Human Machado-Joseph Disease (MJD/SCA3) Locus on Chromosome 14q32.1. C. Sell, C. Cemal, S. Chamberlain. Molecular Genetics, Imperial College of Science, Technology and Medicine, London, UK.

69. GeneCards Disorder Information: Machado-joseph Disease GeneCards Disorder Information machadojoseph disease. Search different databases containing disease information by clicking on the buttons below. http://bioinfo.cnio.es/cgi-bin/db/genecards/disodisp?Machado-Joseph disease

70. Untitled Doctors Corner. What is machadojoseph disease? machado-joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. http://www.geocities.com/mhc_reporter/doctors/koop-machado-joseph.html

MY HANDI-CAPABLE REPORTER JULY 2002 CHANGING PESSIMISM TO OPTIMISM VOLUME 7 ISSUE 7 Doctors Corner What is Machado-Joseph Disease? Machado-Joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. (Ataxia is a general term meaning lack of muscle control.) The disease is characterized by clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and/or rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. The severity of the disease is related to the age of onset, with earlier onset associated with a more severe form of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is also a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. For those who die early from the disease, the cause of death is often aspiration pneumonia. The name, Machado-Joseph, comes from two families of Portuguese/Azorean descent who were among the first families described with the unique symptoms of the disease in the 1970s. The prevalence of the disease is still highest among people of Portuguese/Azorean descent. For immigrants of Portuguese ancestry in New England, the prevalence is around one in 4,000. The highest prevalence in the world, about one in 140, occurs on the small Azorean island of Flores. Recently, researchers have identified MJD in several family groups not of obvious Portuguese descent, including an African-American family from North Carolina, an Italian-American family, and several Japanese families. On a worldwide basis, MJD is the most prevalent autosomal dominant inherited form of ataxia, based on DNA studies.

71. Neurology -- Abstracts: Lima And Coutinho 30 (3): 319 ARTICLES. Clinical criteria for diagnosis of machadojoseph disease report of a non-Azorena Portuguese family. L Lima and P Coutinho. http://www.neurology.org/cgi/content/abstract/30/3/319

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Citation Map Email this article to a friend Correspondence: Submit a response to this article Similar articles found in: Neurology Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Lima, L. Coutinho, P. Alert me when: new articles cite this article Download to Citation Manager ARTICLES Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family L Lima and P Coutinho A Portuguese family of non-Azorean origin is described as affected by an autosomal dominant inherited ataxia resembling Machado-Joseph disease. Clinical criteria for diagnosis are proposed, based on a complex clinical picture extending from extrapyramidal signs to peripheral amyotrophy associated with secondary, but more specific, minor features such as progressive external ophthalmoplegia, dystonia, intention fasciculation-like movements of facial and lingual muscles, and bulging eyes. Machado-Joseph disease may be more widespread than previously

72. Neurology -- Abstracts: Higgins Et Al. 46 (1): 208 Neurology. ARTICLES. Mutations in American families with spinocerebellar ataxia (SCA) type 3 SCA3 is allelic to machadojoseph disease. JJ http://www.neurology.org/cgi/content/abstract/46/1/208

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Citation Map Email this article to a friend Correspondence: Submit a response to this article Similar articles found in: Neurology Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Higgins, J. J. Polymeropoulos, M. H. Alert me when: new articles cite this article Download to Citation Manager ARTICLES Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease JJ Higgins, LE Nee, O Vasconcelos, SE Ide, C Lavedan, LG Goldfarb and MH Polymeropoulos Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892-1430, USA. We identified an expansion of the CAG trinucleotide repeat in the coding region of the Machado-Joseph disease gene in 7 of 24 American families diagnosed with autosomal dominant ataxia. All affected individuals were heterozygous for an expanded allele that ranged from 67 to more than 200 CAG repeats, whereas the normal allele had 14 to 33 repeats. In contrast to

73. Genetic Testing SCA3 (machadojoseph disease) DNA Test - 105. Type of Disorder Movement Disorders Typical Presentation Degeneration of the cerebellum http://www.athenadiagnostics.com/site/product_search/test_description_template.a

74. OMIM - MACHADO-JOSEPH DISEASE; MJD http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=109150

75. Machado-Joseph Disease Google, WWW Medical.WebEnds.com. machadojoseph disease. Dystonia is prominent in younger patients (referred to as Type I machado-joseph disease). http://medical.webends.com/kw/Machado-Joseph Disease

Medical.WebEnds.com - Medical Terminology Dictionary A B C D ... Z WWW Medical.WebEnds.com Machado-Joseph Disease Azorean Disease; Joseph Disease; Spinocerebellar Ataxia Type 3; Striatonigral Degeneration, Autosomal Dominant; Autosomal Dominant Striatonigral Degeneration; Azorean Disease (Machado-Joseph); Azorean Disease, Nervous System A dominantly-inherited ataxia first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China , and Australia . This disorder is classified as one of the SPINOCEREBELLAR ATAXIA S (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia dysarthria , postural instability, nystagmus, eyelid retraction, and facial fasciculations. Dystonia is prominent in younger patients (referred to as Type I Machado-Joseph Disease ). Type II features ataxia and ocular signs; Type III features muscle atrophy and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96) Google links Processing time was 0.043615818023682 seconds.

76. NIH Guide: THE HEREDITARY ATAXIAS INCLUDING MACHADO-JOSEPH DISEASE THE HEREDITARY ATAXIAS INCLUDING machadojoseph disease NIH GUIDE, Volume 21, Number 9, March 6, 1992 PA PA-92-48 PT 34 Keywords Genetics Pathophysiology http://grants.nih.gov/grants/guide/pa-files/PA-92-048.html

Return to 1992 Index Return to NIH Guide Main Index Department of Health and Human Services National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892

77. Wauu.DE: Health: Conditions And Diseases: Genetic Disorders: Machado-Joseph International Joseph Disease Foundation Offers education, medical referrals, updates, and support to all individuals interested in machado-joseph disease. http://www.wauu.de/Health/Conditions_and_Diseases/Genetic_Disorders/Machado-Jose

Home Health Conditions and Diseases Genetic Disorders : Machado-Joseph Search DMOZ-Verzeichnis: All Categories Categories Onlye Links: International Joseph Disease Foundation Offers education, medical referrals, up-dates, and support to all individuals interested in Machado-Joseph Disease. http://www.ijdf.net Machado-Joseph Disease Fact Sheet Developed by the National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/health_and_medical/pubs/machado-joseph.htm Machado-Joseph Information A definition of joseph disease with a look at the symptoms, diagnosis, how it is inherited and research. http://www.lusaweb.com/machado.htm MJD Fact Sheet In depth look at machado-joseph disease with some resources for further reading. http://glawen.freeyellow.com/joseph3.htm MJD: Getting Help Information about machado-joseph disease, genetic counselling, access to medical care and improving life quality. http://www.uac.pt/paginas/gain/doenca_i.html Pediatric Database In depth look at this machado-joseph disease, starting with a definition, epidemiology, pathogenesis, clinical features, investigation and management. http://www.icondata.com/health/pedbase/files/MACHADO-.HTM

78. GeneCard For MJD Human Gene Nomenclature database symbol MJD (machadojoseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)). http://genecards.bcgsc.bc.ca/cgi-bin/carddisp?MJD

79. 1421 - Gavin Menzies (iv) machadojoseph disease Jerry Warsing is kindly researching the spread of this disease which he believes originated in the Yunnan province of S. China and http://www.1421.tv/pages/evidence/content.asp?EvidenceID=285

80. MJD Fact Sheet This Article Submitted By Dr. Lewis Sudarsky On 1/9 In other parts of the world. machadojoseph disease has been recognized with increasing frequency. 2. Sudarsky L, Coutinho P, machado-joseph disease. http://pages.infinit.net/macmike/internaf/archives/MJD.txt

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 101    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20