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Machado-joseph Disease: more detail

The Official Patient's Sourcebook on Machado-Joseph Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09

Machado-Joseph disease

Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).: An article from: Human Biology by Manuela Lima, Francine M. Mayer, et all 1998-12-01

Machado-Joseph disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Sandra Galeotti, 2005

Prevalence, geographic distribution, and genealogical investigations of Machado-Joseph disease in the Azores (Portugal).: An article from: Human Biology by Manuela Lima, Francine Mayer, et all 1997-06-01

Machado-Joseph disease (SuDoc HE 20.3520:M 18) by U.S. Dept of Health and Human Services, 2001

lists with details

Projects
e mapeamento cromossómico da doença de MachadoJoseph (Search for a genetic markerand gene mapping of machado-joseph disease), Principal Investigator Jorge
http://gaia.ibmc.up.pt/groups/unigene/html/body_projects.html

Extractions: Some of the more relevant (financed) research projects in the last 5 years Programa STRIDE, STRDA/C/SAU/300/92 (Mar 93 - Feb 95) Busca de um marcador genético e mapeamento cromossómico da doença de Machado-Joseph (Search for a genetic marker and gene mapping of Machado-Joseph disease) Principal Investigator: Jorge Sequeiros J.Sequeiros, P.Coutinho, I.Silveira, P.Maciel, C.Gaspar, A.Sousa, J.Guimarães, J.M.Leal Loureiro Exclusion of linkage to 12q of MJD. Confirmation of and refinement of linkage of MJD to 14q. Establishment of phenotype-genotype correlation in MJD (age at onset and subtype). Definition of the distributions of normal and expanded alleles in MJD . Meiotic and mitotic instability of the MJD mutation . Genetic heterogeneity of dominant ataxias and their frequency in different populations. Definition of the existence of two different haplotypes in the Azores (Flores and São Miguel) , and their distributions in Portugal and other countries. Some of these were pursued under projects PECS/P/SAU/50/95 and, particularly, under PRAXIS/P/SAU/84/96 Comissão de Fomento e Investigação em Cuidados de Saúde, 95/92 - (Apr 93 - Jun 94)
Huntington And Other Neurodegenerative Disorders
of our group has been the molecular pathomechanism of Huntington's disease andrelated polyglutamine disorders, such as machadojoseph disease and several
http://www.molgen.mpg.de/~agwanker/

Extractions: Protein Interaction Networks The main focus of our group has been the molecular pathomechanism of Huntington's disease and related polyglutamine disorders, such as Machado-Joseph disease and several other spinocerebellar ataxias. A characteristic feature of these illnesses is the formation of insoluble protein aggregates in neuronal cells. Aggregates are formed due to an elongated glutamine repeat and are deposited in the nucleus and the cytoplasm of neurons in various regions of the brain. We try to understand the conditions that lead to aggregation and to find ways of inhibiting it, in order to prevent cell death (Wanker, 2000a,b). Recently we performed a high-throughput drug screening to find small molecules that prevent polyglutamine aggregation in HD. Our activities concerning Huntington's disease have led us to investigate a broader range of illness related proteins. We have identified and characterised the Huntingtin interacting proteins HIP1 and SH3GL3, and are now using them to establish larger protein-protein interaction networks involved in HD. In our systematic approach, we are employing an automated yeast two-hybrid system, as well as affinity chromatography and mass spectrometry. Work on protein interaction networks in Parkinson's, Alzheimer's and prion diseases is under way. Wanker, E. E. (2000a). Protein aggregation and pathogenesis of Huntington's disease: mechanisms and correlations, Biol Chem
Introduction
Molecular and Metabolic Characterization of machadojoseph disease. RS Liu,BW Soong, YK Chu, LS Chu, SM Yu, KL Chou, and SH Yeh. Introduction.
http://www.npcc.gov.tw/pet-5year/Clinical/mole.htm

Extractions: Molecular and Metabolic Characterization of Machado-Joseph Disease R.S. Liu, B.W. Soong, Y.K. Chu, L.S. Chu, S.M. Yu, K.L. Chou, and S.H. Yeh Introduction Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar atrophy characterized pathologically by degeneration of the spinocerebellar tracts, dentate nuclei, pontine and vestibular nuclei, extrapyramidal structures, and neuronal loss in motor cranial nerves, anterior horn cells and the posterior root ganglion. MJD gene is an expansion of a trinucleotide CAG repeat that lies at the 3'terminal of the coding region. This study aims to investigate the metabolic abnormalities of the MJD patients identified by the presence of expanded CAG repeats in the MJD gene. Methods and Materials Eight MJD patients (3 males, 5 females; average duration of illness: 9.6 7.8 years) and 10 normal control subjects were studied with positron emission tomography (PET) using [F-18] fluorodeoxyglucose (FDG). Regional uptake ratios of FDG were calculated from the radioactivity of the cerebellar hemispheres, cerebellar vermis, brain stem, and the temporal, parietal and occipital cortices, divided by the activity of the thalamus. Results The results showed that uptake ratios of MJD patients were significantly lower than that in control subjects in the occipital cortex, cerebellar hemispheres, vermis, and brain stem. Furthermore, the FDG uptake ratios in the occipital cortex was found to be inversely correlated with the duration of illness, but not with the age of onset of illness.
Medicalseek - Search Engine For The Healthcare Industry
International Joseph Disease Foundation Offers education, medical referrals, updates,and support to all individuals interested in machado-joseph disease.
http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Machado_Jos
Spinocerebellar Degeneration
machadojoseph disease Search PUBMED for machado-joseph disease All ReviewTherapy Diagnosis; machado-joseph disease OMIM. Olivopontocerebellar
http://www.ohsu.edu/cliniweb/C10/C10.228.140.252.253.871.html
Listings Of The World Health Conditions And Diseases Genetic
Joseph Disease Foundation Post Review Offers education, medical referrals, updates,and support to all individuals interested in machado-joseph disease.
http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Machad
Genetic Testing For Ataxia Diseases
The name eventually changed to machadojoseph disease (MJD), recognizing the twoPortuguese-American families who were living on opposite US coasts when first
http://www.swmed.edu/home_pages/news/machado.htm

Extractions: DALLAS November 16, 1995 Genetic testing is now possible for individuals who are at risk for certain degenerative neurological diseases known as ataxias, says a researcher at UT Southwestern Medical Center at Dallas. Today's issue of the New England Journal of Medicine features an editorial by Dr. Roger Rosenberg in which he writes that "recent progress in deciphering the molecular basis of the ataxias has been extraordinary." An ataxia is a type of disease that results in loss of coordination in muscle movements. Rosenberg, professor of neurology and holder of the Abe (Brunky), Morris and William Zale Distinguished Chair in Neurology, was one of two physicians in 1975 who discovered a rare and fatal neurological disorder, which they called the Joseph family disease. The name eventually changed to Machado-Joseph disease (MJD), recognizing the two Portuguese-American families who were living on opposite U.S. coasts when first diagnosed with the illness. It is classified as an ataxia and causes degeneration of the cerebellum, resulting in a gradual loss of coordination, involuntary movement in muscles and spasticity. Rosenberg has devoted a great deal of research time in the past 20 years to determining the mutant gene products that cause ataxias and classifying patients according to genotype.
The Multiracial Activist - Guest Commentary: Melungeon Health Issues By Nancy Sp
machadojoseph disease was discovered in the United States in 1972. The nameof this group is The Friends of machado-joseph disease Nucleus .
http://www.multiracial.com/readers/sparks2.html

Extractions: April/May 2001 I am not a doctor. I can neither diagnose nor prescribe. I am a lay person, who because of my own personal health problems, has done extensive research on some Mediterranean illnesses which seem to run throughout my Melungeon connected families. The information that I am providing here is to be used for educational purposes only. It should not be used for diagnostic or treatment purposes. Here is an overview of the five major medical problems that some Melungeon descendants inherit. MAY AFFECT MELUNGEON DESCENDANTS SYNDROME is a relapsing, multi-system inflammatory disease in which there are oral/genital ulcers. There may be inflammation of the eyes, joints, blood vessels, central nervous system and gastrointestinal tract involvement. Attacks last about a week to a month and reoccur spontaneously. Onset is usually between 20-30 years of age with symptoms ocurring up to several years after the onset. Twice as many men as women are affected. There is a genetic predisposition with autoimmune mechanism and viral infection which may all play a part. Related disorders are Reiters Syndrome, Stevens Johnson Syndrome, and Ulcerative Colitis. Also, visit the
The Sackler Faculty Of Medicine - Natan Gadoth
The Israeli Pocket of machadojoseph diseaseGenotipic-Phenotipic correlation.An open trial of Septrin in machado-joseph disease.
http://www.tau.ac.il/medicine/Med_school/Neurology/USR/gadothn.htm

Extractions: Ramat Aviv, Tel Aviv 69978, ISRAEL Tel: Fax: E-mail: gadoth@post.tau.ac.il Research interests: Evoked responses, Neural regeneration, Epilepsy, Dyslexia, Neurogenetics, Neurogenic metabolic and deficiency disorders, disorders of the autonomic nervous system. Research Projects: Late evoked responses in Epilepsy ( Y. Henkin -Ph.D. Thesis). Electrophysiologic and morphologic evaluation of the regenerative response in the rabbit's optic nerve.( A.Solomon -Ph.D.Thesis). Cognitive evoked responses in children with learning disabilities. ( H. Puter -Ph.D. Thesis). Dichotic listening in bilingual children with learning disabilities. ( R. Fayans - MSc Thesis). The vestibular system in professional divers.( Z. Sharoni -MSc Thesis). The Israeli Pocket of Machado-Joseph disease:Genotipic-Phenotipic correlation. An open trial of Septrin in Machado-Joseph disease. Gabapentin in complex partial epilepsy. A multicenter study. The neurology of Vit. B12 deficiency (with Prof. U. Zeligson of the Department of Hematology).
Machado-joseph-disease Treatment
machadojoseph-disease treatment. This article submitted by thorsten schulteon 2/4/97. Author's Email thorsten.schulte@rz.ruhr-uni-bochum.de Hallo,
http://neuro-www.mgh.harvard.edu/neurowebforum/MovementDisordersArticles/2.4.971
Spinocerebelläre Ataxie Typ 3 (SCA3, Machado-Joseph-Disease, MJD)
Translate this page Spinocerebelläre Ataxie Typ 3 (SCA3, machado-joseph-disease, MJD). Klinik.Die Spinocerebelläre Ataxie Typ 3 präsentiert sich klinisch
http://www.pedgen.med.uni-muenchen.de/medgen/patinfo/diagnostik/sca3.html
Flies Are Us
SCA3/machadojoseph's disease. Machado/Joseph machado.htm. machado-josephdisease - http//www.icondata.com/health/pedbase/files/MACHADO-.HTM.
http://www.molbio.princeton.edu/courses/mb427/2001/projects/03/links.html

Extractions: Drosophila Resources The WWW Virtual Library: Drosophila - http://ceolas.org/fly/ The Interactive Fly - http://sdb.bio.purdue.edu/fly/aimain/1aahome.htm FlyBase - A Database of the Drosophila Genome - http://flybase.bio.indiana.edu:82/ Flyview - http://pbio07.uni-muenster.de/ http://www.nih.gov/ Berkeley Drosophila Genome Project - http://www.fruitfly.org/ Page of links - http://www.carlitos.ch/b2000/links.html The Fly Lab - http://www.biologylab.awlonline.com/FlyLab/ FlyBrain - http://flybrain.uni-freiburg.de/ Alzheimers Disease Alzheimers Research Forum - http://www.alzforum.org/ American Health Assistance Foundation - http://www.ahaf.org/ Alzheimers Disease Research Center in St. Louis - http://www.biostat.wustl.edu/alzheimer/ Alzheimers Disease Cooperative Study - http://antimony.ucsd.edu/ Alzheimers Association - http://www.alz.org/
Medical Dictionary Online : MEDICAL TERMINOLOGY -M- PAGE
Machado Joseph disease Type I Machado Joseph disease Type II Machado Joseph diseaseType III Machado Joseph disease Type IV machadojoseph Azorean disease
http://www.online-medical-dictionary.org/medical-dictionary/m-medical-terms-3.ht
M.G.L - Chapter 111, Section 6D.
system diseases in persons of Portuguese ancestry variously known as Machado'sdisease, Joseph's disease, Azorean disease, machadojoseph's disease or spino
http://www.state.ma.us/legis/laws/mgl/111-6D.htm

Extractions: PART I. ADMINISTRATION OF THE GOVERNMENT. TITLE XVI. PUBLIC HEALTH. CHAPTER 111. PUBLIC HEALTH. Chapter 111: Section 6D. Advisory committee for genetically handicapped persons; investigation and study; rules and regulations. Section 6D. There is hereby established within the department an advisory committee for genetically handicapped persons, hereinafter referred to as the committee. The committee shall be composed of six members to be appointed by the commissioner, one of whom shall be a geneticist, two of whom shall be medical specialists, at least one of whom shall be a neurologist involved in the medical treatment of individuals afflicted with inherited neurological degenerative diseases in persons of Portuguese ancestry, and three of whom shall be members of the general public. Each member shall hold office for a term of four years and until his successor is appointed and qualified. The members of the committee shall serve without compensation but shall be reimbursed for actual expenses incurred in carrying out their official duties. The department shall, with the advice and recommendations of the committee, make an investigation and study into heredo-familial neuronal degenerative diseases including, but not limited to, autosomal dominant motor system diseases in persons of Portuguese ancestry variously known as Machado's Disease, Joseph's Disease, Azorean Disease, Machado-Joseph's Disease or spino-nigro-dentatal degeneration, Huntington's Chorea, Friedreich's Ataxia and similar disorders. Said investigation and study shall be conducted for the purposes of establishing and administering a program for the medical care, treatment and counseling of genetically handicapped persons afflicted with the said medical problems.
Machado Joseph Disease - Information And Support Resources
Machado Joseph disease Overview, Screening, Testing, Information and SupportResources. , Jewish Genetic diseases Boards. Machado Joseph disease.
http://www.mazornet.com/genetics/machado.asp
Health In The XXI Century: A Vision Of The European Youth
Machado Joseph disease. Machado Joseph disease (Text produced by the researcher).Researcher Professor Jorge Sequeiros. Paramyloidoisis Machado Joseph disease.
http://www.ucv.mct.pt/healthXXI/topics.asp?lang=en&accao=ibmc2_en
International Joseph Disease Foundation
by Sheri Rogers Bashor. Personal Thoughts. A question that continuesto arise in my mind is the origin of MJD (Machado Joseph disease).
http://www.shasta.com/bastiana/sephardic.html

Extractions: E-Mail Us MJD and the Sephardic Connection by Sheri Rogers Bashor Personal Thoughts A question that continues to arise in my mind is the origin of MJD (Machado Joseph Disease). A disease that once was thought to be contained in my own family and thought of as our "family secret" is now known as a "common ataxia" through out the world. In twenty-five short years a disease that was hidden for over "500 or more years" has now sparked the interest of medical professionals world wide. I am not, nor do I claim to be a medical professional but I would like to present some facts that I believe have a definite connection between a genetic disease (which has been in my family for centuries) and many Sephardic Jews. Machado Joseph Disease (MJD) is an autosomal dominant neurodegenerative disorder. In layman terms a genetic neurological disease or stated simply an inherited disease of the central nervous system. It was first thought that this disease originated in the Azores Islands. If your parent has or had the disease you have a 50/50 chance of getting the disease. This disease does not skip generations nor is it a respecter of persons. This disease progresses year after year, the affected person becomes wheel chair bound, their body becomes stiff, they must depend on others for their primary care, and they are unable to communicate or be understood. The intellect is usually intact which means "one is trapped in a body that does not work; a virtual prison." My father had this disease (he died at 39 yrs. of age), as did his father, generation, after generation. My sister now has this disease.
MACHADO JOSEPH DISEASE
MACHADO JOSEPH disease. This article submitted by EDUARDO NEVES on 8/13/98.Email Address FAMILIANEVES@MAIL.TELEPAC.PT I HAVE MACHADO
http://neuro-www.mgh.harvard.edu/forum/CerebellarAtaxiaF/8.13.9811.46AMMACHADOJO
MACHADO JOSEPH DISEASE
MACHADO JOSEPH diseaseMJD SYMPTOMS OF MACHADO JOSEPH disease *weakness in thearms and legs *spasticity *staggering, lurching gait,easily mistaken for
http://members.tripod.com/~ebs_2/info/mjd.html

Extractions: Symptoms most commonly begin between the ages of 15 and 40, but may appear earlier or much later in life. Progression may be fast or slow, and life expectancy ranges from 10-30 years after the disease begins. Neurologists have classified MJD into three types, depending on age at onset and characteristic symptoms. Machado Joseph Disease is an autosomal dominant disorder. This means that each child of an affected parent has a 50 percent chance of inheriting the defective gene. MJD does not skip generations, but people at risk who escape the disease will not pass it on to their children or future generations. As with any inherited disorder, MJD is not contagious and cannot be "caught" by people who are not at risk.
IJDF By RoseMarie Silva
Chronological History of The IJDF and Machado Joseph disease In 1972, physiciansin Massachusetts examined a Machado family for its neurological problem.
http://irmas.freeyellow.com/page3.html

Extractions: With the advent of a new disease entity, Joseph family members, friends and professionals joined together in 1977 to form the International Joseph Diseases Foundation, a non-profit corporation. Members of the new Board of Directors and physicians were aware of Machado disease and other existing disorders affecting persons of Portuguese ancestry. It was decided to make the word disease plural in the new foundations name to encompass these other neurological diseases. In 1979, scientists working with the Joseph family established, through clinical and pathological studies, that Joseph disease could be expressed in three different ways, with varying symptoms and ages of onset of the disease. Medical researchers have documented the three types of the disease in scientific articles. Due to this variation, Joseph Disease has been referred to as a mysterious disease. During the year, 1980, research teams concluded that both Machado and Joseph disease could be clinically expressed as Type 31. Because Machado and Joseph disease are considered to be one and the same, about the year 1981, medical researchers began referring to the disorder as Machado-Joseph disease or MJD: Machado for the first family described and Joseph for the largest family affected. With the publication of medical articles written by teams of scientist researching both Machado and Joseph disease in the United States, Canada and Portugal, other physicians from within the United States and from other countries realized that some of their patients were also expressing symptoms of the disease. In 1980, it was medically established that the disease can affect persons of other ethnic backgrounds, not just those of Portuguese descent. Due to increased knowledge and worldwide education, Machado-Joseph disease has been documented on five continents. Countries where patients have been reported in medical articles include Japan, China, India, Brazil, the Azores Islands, Spain, Canada, Australia, Taiwan, Italy, and the United States (and possibly other countries from which we have not heard.)

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