21. The Center For Acadiana Genetics - Louisiana State University Health Sciences Ce for Acadiana genetics. He gave an overview of genetics and of the genesthat cause different forms of ataxia. He explained how genes http://www.lsuhsc.edu/no/centers/genetics/ag/

Centers of Excellence Center for Molecular and Human Genetics Calendar of Events Department of Genetics Homepage Faculty Members Gene Therapy Program ... Research The Center for Acadiana Genetics Testimony of Billy Tauzin A Tribute to Dr. Merv Trail Leadership and Membership for the Center of Acadiana Genetics Coup de main - Lending a hand in Acadiana Testimony of Congressman Tauzin House Appropriations Subcommittee on Labor, Health and Human Services March 27, 2001 http://www.house.gob/tauzin/testimony_010327_ap.htm Congressman Billy Tauzin (R-Thibodaux) testifies in Washington, DC before the House Appropriations Subcommittee on Labor, Health and Human Services, Education and Related Agencies regarding the importance of continued federal funding for the Center for Acadian Genetics and Hereditary Health Care. On the left is Keith Andrus who is afflicted with Friendreich's ataxia, one of the genetic disorders that occurs at a disproportionately higher frequency in the south Louisiana Acadian community. Congressman Ralph Regula is the Chairman of the House Appropriations Subcommittee on Labor, Health and Human Services, Education and Related Agencies. He and subcommittee staff assistant, Ms. Francine Salvador, are pictured while receiving the testimony of Congressman Tauzin.

22. Center For Molecular And Human Genetics - Louisiana State University Health Scie members also donate their time to free on the road clinics for organizations suchas the National ataxia Foundation, and they give talks on genetics to many http://www.lsuhsc.edu/no/centers/genetics/history.htm

Centers of Excellence Center for Molecular and Human Genetics Calendar of Events Center for Acadiana Genetics Department of ... Research History and Accomplishments The LSU Health Sciences Center New Orleans Center of Excellence Center for Molecular and Human Genetics was established in 1991 with Robert Elston, Ph.D., as Director. Several organizational and planning meetings were held over the next two years. In 1994, LSU Health Sciences Center New Orleans Schools, Departments, and Centers of Excellence agreed to contribute funding to the Center for Molecular and Human Genetics and Ms. Judy LaBorde was appointed coordinator for the Center. With Dr. Elston’s departure from LSU Health Sciences Center New Orleans in June, 1995, Bronya Keats, Ph.D., was appointed Acting Director by Dean Robert Daniels. With a limited budget the LSU Health Sciences Center New Orleans Center of Excellence Center for Molecular and Human Genetics has established its identity through the publication of the newsletter, "Linkage", which is distributed to over 12,000 faculty, staff, alumni, political and community leaders, private foundations, and families with genetic disorders throughout the LSU Health Sciences Center New Orleans, the State, and the Nation. Issues of the newsletter have focused on Friedreich ataxia, Down syndrome, and Cancer. The Genetics Center has also sponsored a monthly seminar series with outstanding speakers from both LSU Health Sciences Center New Orleans and other institutions. The seminars are designed to attract a broad audience and are always well attended.

23. Research Graduate Training - Genetics distinct ATM gene mutations in ataxiatelangiectasia. Amer J Hum Genet 59839-846,1996. Grody, Wayne, MD Ph.D. Research Area Molecular genetics of heritable http://wwwpathnet.medsch.ucla.edu/research/bio-sketch-7.htm

24. Wellcome Trust Centre For Human Genetics - Template The genetics of movement disorders and ataxias. is a genetically heterogeneous groupof disorders which includes Friedreich ataxia, ataxia telangiectasia and http://www.well.ox.ac.uk/monaco/andrea.shtml

Back to Monaco Group home about research ... vacancies The genetics of movement disorders and ataxias WTCHG Group Dr. Andrea H. Németh (andrea.nemeth@well.ox.ac.uk) Ms. Eimear Dunne The two main interests of the group are inherited dystonias and ataxias, but we also have an interest in other inherited neurogenetic conditions such as chorea-acanthocytosis (Rubio et al., 1997, Rampoldi et al., 2001 and see ...), Tourette syndrome and adrenoleukodystrophy. Dr. Németh sees out-patients with inherited neurogenetic conditions in a specialist clinic held once a month. Ataxias a) Autosomal recessive cerebellar ataxias This is a genetically heterogeneous group of disorders which includes Friedreich ataxia, ataxia telangiectasia and vitamin E deficiency. Another condition in this group, which has only recently been investigated in more detail, is autosomal recessive cerebellar ataxia associated with a complex eye movement disorder, sometimes known as ataxia with oculomotor apraxia (AOA) or ataxia-telangiectasia like-disorder (ATLD). We have identified a large family with this condition and mapped the disease locus to chromosome 9q34 (Németh et al., 2000). Further work is now in progress to collect additional families and check for linkage to 9q34, or to 9p where a second AOA locus has recently been identified (do Ceu Moreira et al., 2001)

25. Wellcome Trust Centre For Human Genetics - Ebers Group Migraine and Episodic ataxia. Project. Dr. Zameel Cader is investigating molecularbiology of channelopathies a novel Episodic ataxia and Classical migraine. http://www.well.ox.ac.uk/ebers/MigraineANDEA.shtml

Multiple Sclerosis (CCPGSMS) Migraine Episodic Ataxia Collaborators ... vacancies Migraine and Episodic Ataxia Professor George C. Ebers Chair of Clinical Neurology george.ebers@clneuro.ox.ac.uk Project Dr. Zameel Cader is investigating molecular biology of channelopathies - a novel Episodic Ataxia and Classical migraine. For further information contact: zameel@well.ox.ac.uk home about research ... vacancies This page updated: Friday, March 7, 2003

26. Florida State University College Of Medicine Digital Library SCA6 Access document. Autosomal Recessive ataxias Access document Friedreich'sataxia Access document genetics Access document. ataxia Telangiectasia Access http://fsumed-dl.slis.ua.edu/clinical/neurology/cns/ataxia.htm

Clinical Resources by Topic: Neurology Ataxia Clinical Resources Pediatrics Geriatrics Pathology Genetics ... Miscellaneous Resources See also: Neurological Clinical Procedure Resources General Neurology Clinical Resources Ataxia Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 22: Weakness, Myalgias, Disorders of Movement, and Imbalance Table of contents Introduction: Access document Imbalance and Disorders of Gait: Access document Introduction: Access document Pathogenesis: Access document Approach to the Patient: Access document Chapter 364: Ataxic Disorders Table of contents Approach to the Patient: Access document Symmetric Ataxia: Access document Focal Ataxia: Access document The Inherited Ataxias: Access document Introduction: Access document Autosomal Dominant Ataxias: Access document Introduction: Access document Access document Genetics: Access document Access document Genetics: Access document Machado-Joseph Disease/SCA3: Access document Genetics: Access document Access document Autosomal Recessive Ataxias: Access document Friedreich's Ataxia: Access document Genetics: Access document Ataxia Telangiectasia: Access document Genetics: Access document Mitochondrial Ataxias: Access document Treatment: Access document Chapter 363: Parkinson's Disease and Other Extrapyramidal Disorders Table of contents Machado-Joseph Disease (Spinocerebellar Ataxia Type 3): Access document Drug-Induced Movement Disorders: Access document Treatment: Access document Neuroleptic Malignant Syndrome:

27. Humangenetik Bochum - Services - Diagnostics - Molecular Genetics - Friedreich A Humangenetik Bochum » Services » Diagnostics » Molecular genetics » Friedreichataxia. Friedreich ataxia. Details exclusively available in german version. http://www.ruhr-uni-bochum.de/mhg/LEISTUNGEN/DIAGNOSTIK/diagnostik-molgen-friedr

Startseite A-Z Suche Kontakt Humangenetik Homepage Huntington-Center Research Groups Publications Services Diagnostics Councelling Relationship analysis/ Forensic Education Lecture Training Seminars Staff Workgroups Index GenLinks Research Journals Companies Institutes Contact Adresses How to find us Humangenetik Services for: Students Scientists Patients Doctors ... Friedreich Ataxia Friedreich Ataxia Details exclusively available in german version. Contact Info Dr. med. A. Syska Tel. +49 234 3225762 none head

28. Peninsula Molecular Genetics Laboratory, Exeter, UK CLINICAL genetics. FRIEDREICH ataxia (ANALYSIS OF THE FRDA GENE). Friedreichataxia is the most common inherited ataxia with an incidence of 1 in 50,000. http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/friedreich.htm

CLINICAL GENETICS FRIEDREICH ATAXIA (ANALYSIS OF THE FRDA GENE) Friedreich ataxia is the most common inherited ataxia with an incidence of 1 in 50,000. It has a recessive mode of inheritance with a carrier frequency estimated at 1 in 120. More than 95% of affected patients are homozygous for a (GAA)n expansion within intron 1 of the FRDA gene which encodes the frataxin protein. There are rare compound heterozygotes with an expansion on one allele and a point mutation in the other. Analysis of the (GAA)n repeat within the FRDA gene by PCR/agarose gel electrophoresis and sizing of normal range alleles using an ABI PRISM 377 TM DNA sequencer. A triplet-primed PCR method is used to look for the presence of an expansion in order to avoid false negative results resulting from allelic dropout in patients heterozygous for an expansion mutation. Sample required: 2 x 7.5ml blood (2.5ml for children) in EDTA tubes Reporting time: 1- 8 weeks Cost: Analysis of the FRDA (GAA)n repeat

29. Peninsula Molecular Genetics Laboratory, Exeter, UK CLINICAL genetics. SPINOCEREBELLAR ataxia (ANALYSIS OF THE SCA1, 2,3, 6 and 7 GENES). The autosomal dominant cerebellar ataxias (ADCAs http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/sca.htm

CLINICAL GENETICS SPINOCEREBELLAR ATAXIA (ANALYSIS OF THE and GENES) The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders with an estimated prevalence of 1 in 100,000. A trinucleotide repeat expansion (CAG)n has been found within the coding region at 5 gene loci (SCA1, 2, 3, 6 and 7). Analysis of the (CAG)n repeat within the and genes using an ABI PRISM 377 TM DNA sequencer Sample required: 2 x 7.5ml blood in EDTA tubes Reporting time: 1- 8 weeks Cost: Analysis of one SCA (CAG)n repeat Analysis of the SCA1, 2, 3, 6 and 7 (CAG)n repeats

30. Human Genetics Faculty Taylor AMR, Weemaes CMA, Lange K, Gatti RA (1992) ataxiatelangiectasia linkageevidence for genetic heterogeneity. American Journal of Human genetics 50 1343 http://www.research.medsch.ucla.edu/Departments/humgen/genetics_pub.cfm?FacultyK

31. Kprones Ataxia URL http//www.infobiogen.fr/services/chromcancer/Tumors/ataxia.html. © Atlasof genetics and Cytogenetics in Oncology and Haematology, indexed on Sun Feb http://www.infobiogen.fr/services/chromcancer/Kprones/ataxia.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Ataxia telangiectasia Identity Note see also, in Deep Insight section: Ataxia-Telangiectasia and variants Other names Louis-Bar syndrome Inheritance autosomal recessive; frequency is about 1 to 2.5/105 newborns; heterozygotes are estimated to be 1% of the general population; founder effect are found in some isolated population Clinics Note ataxia telangiectasia is a chromosome instability syndrome with cerebellar degeneration, immunodeficiency, and an increased risk of cancers; A-T cells are defective in recognizing double-strand DNA damage to signal for repair Phenotype and clinics onset of the disease is often noted during the second year of life: there is progressive cerebellar ataxia (initially truncal, with further peripheral extension); ataxia is a constant feature in this disease; oculomotor apraxia, dysarthria, and dystonia; leading to muscular atrophia telangiectasia: facial region exposed to sunlight, and eyes (conjunctiva) combined immunodeficiency (in 70 %): thymus hypoplasia, and IgG2 and 4, IgA, IgE deficiency

32. Evidence For A Common Spinocerebellar Ataxia Type7 (SCA7) Founder Mutation In Sc type 7 (SCA7) is a neurodegenerative disorder characterised by progressive cerebellarataxia and macular European Journal of Human genetics (2000) 8, 918-922. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v8/n12/abs/5200557

33. A Common Disease Haplotype Segregating In Spinocerebellar Ataxia 2 (SCA2) Pedigr 1 Hereditary ataxia Research Group, Molecular genetics, Division of BiomedicalSciences, Imperial College of Science, Technology and Medicine, London. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v7/n7/abs/5200372a

34. Cancer.gov - Genetics Of Breast And Ovarian Cancer (PDQ®) (Refer to the PDQ summary Overview of Cancer genetics for more which may includebreast cancer as an associated feature include ataxia telangiectasia and Peutz http://www.nci.nih.gov/cancerinfo/pdq/genetics/breast-and-ovarian

Date Last Modified: 12/19/2002 Genetics of Breast and Ovarian Cancer Introduction General Information Family History as a Risk Factor for Breast Cancer Family History as a Risk Factor for Ovarian Cancer ... Behavioral Outcomes Introduction General Information Among women, breast cancer is the most commonly diagnosed cancer after nonmelanoma skin cancer, and is the second leading cause of cancer deaths after lung cancer. In 2002, an estimated 205,000 new cases will be diagnosed and 40,000 deaths from breast cancer will occur.[ A possible genetic contribution to breast cancer risk is indicated by the increased incidence of breast cancer among women with a family history of breast cancer, and by the observation of rare families in which multiple family members are affected with breast cancer, in a pattern compatible with autosomal dominant inheritance of cancer susceptibility. Formal studies of families (linkage analysis) have subsequently proven the existence of an autosomal dominant form of breast cancer, and have led to the identification of several highly penetrant genes of major effect as the cause of inherited cancer risk in many cancer-prone families. (Refer to the PDQ summary Overview of Cancer Genetics for more information on linkage analysis.) These mutations are rare and are estimated to account for no more than 5% to 10% of breast cancer cases overall. It is likely that other background genetic factors contribute to the etiology of breast cancer.

35. RDInfo- Research And Development Information Charity Details international authorities. Comments Formally Friedreich's ataxia Group.Priority areas ataxia, genetics, nervous system. Web Pages http://www.rdinfo.org.uk/queries/ListCharityDetails.asp?CharityID=88

36. Cerebellar Ataxia Banfi et al. 1994. Identification and characterisation of the gene causing type1 spinocerebellar ataxia. Nature genetics 7 513520. Cancel et al. 1997. http://leedsdna.info/tests/SCA.htm

last update: Autosomal Dominant Spinocerebellar Ataxias (SCAs) Name OMIM No. Test Strategy Level 1 - PCR analysis for the CAG expansion mutations associated with spinocerebellar ataxias type 1, 2, 3, 6 and 7. As there is overlap between the phenotypes of the spinocerebellar ataxias the CMGS best pratice guidelines recommend testing for all the CAG repeat expansion mutations in patients in whom testing is requested. Introduction The adult onset autosomal dominant spinocerebellar ataxias are a clinically and genetically heterogeneous group of diseases. There are three clinical subgroups ADCA type I, ADCA type II and ADCA III. ADCA type I is a progressive cerebellar ataxia with additional but variable associated features of supranuclear ophthalmoplegia, optic atrophy, mild dementia, peripheral neuropathy and pyramidal dysfuction. ACDA type I is genetically heterogeneous and is due to mutations in the SCA1, SCA2 or SCA3 genes. A further gene SCA4 shows linkage with ACDA type I in one family but so far a gene has not been isolated. Families with ACDA type II have a mutation in the SCA7 gene. There is marked variation in age of onset and the disease has been described in infancy. Affected individuals have progressive ataxia with pigmentary macular dystrophy (which distinguishes it from the other SCAs).

37. Ataxia Telangiectasia ataxia Telangiectasia up. ataxia Telangiectasia / genetics ataxiaTelangiectasia / genetics. GeneReviews ataxiatelangiectasia, http://omni.ac.uk/browse/mesh/detail/C0004135L0004135.html

Ataxia Telangiectasia [up] Ataxia Telangiectasia / genetics Related topics: broader Genetic Diseases, Inborn other Agammaglobulinemia Cystic Fibrosis DiGeorge Syndrome HIV Infections ... NINDS : ataxia telangiectasia information page This Web resource on ataxia telangiectasia (an autosomal recessive inherited disorder) is produced by the National Institute of Neurological Disorders and Stroke (NINDS). A description of ataxia telangiectasia is provided, and available treatments, prognosis, and current research activities are all discussed. Links to related organisations and NINDS related material (including documents and press releases) are provided. This resource has a US focus. Ataxia Telangiectasia Patient Education Handout [Publication Type] Ataxia Telangiectasia / genetics GeneReviews : ataxia-telangiectasia Notes for physicians on ataxia-telangiectasia (A-T, Louis-Bar Syndrome). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in October 1998, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Ataxia Telangiectasia / genetics Last modified 28/Mar/2003 [Low Graphics]

38. GeneReviews : Ataxia-telangiectasia of the review. Free access to the fulltext version of the reviewrequires brief registration. ataxia Telangiectasia / genetics. http://omni.ac.uk/whatsnew/detail/4003038.html

Back to whats new page. GeneReviews : ataxia-telangiectasia Notes for physicians on ataxia-telangiectasia (A-T, Louis-Bar Syndrome). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in October 1998, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Ataxia Telangiectasia / genetics Last modified 26/Apr/2002 [Low Graphics]

39. The Scientist - Research: Ataxia Discoveries Open Window To Neurodegeneration HT Orr et al., Expansion of an unstable trinucleotide CAG repeat inspinocerebellar ataxia type 1, Nature genetics, 42216, 1993. http://www.the-scientist.com/yr1999/apr/research_990426.html

The Scientist 13[9]:14, Apr. 26, 1999 Research Research: Ataxia Discoveries Open Window to Neurodegeneration By Steve Bunk For the most part, modern medicine is no match for neurodegenerative diseases. But with advances in the study of genetics, the ability of scientists to get a molecular "handle" on such mysterious malfunctions promises to change all that. And perhaps the most useful such handle yet found is the phenomenon called trinucleotide repeat expansion. This occurs when any three of the four nucleotide subunits in DNA material begin to excessively repeat their adjacent appearance in a molecule. For example, in normal nucleic acid molecules, the adjacent occurrence of cytosine, adenosine, and guanine (CAG) may repeat itself up to 40 times before being interrupted by another combination. But in recent years, researchers have observed CAG tracts of up to several hundred repeats in DNA of the victims of certain diseases. Since the CAG tract codes for glutamine, such ailments have become known as polyglutamine disorders. To date, eight neurodegenerative diseases have been shown to be caused by CAG expanded repeats located within specific genes. They include: Huntington's disease, dentatorrubral-pallidolysian atrophy, spinal-bulbar muscular atrophy, and five types of spinocerebellar ataxia (SCA) characterized by the inability to voluntarily control muscles.

40. The Scientist - Hot Paper #1 - Medical Genetics AE McCall, LA Duvick, LPW Ranum, HY Zoghbi, Expansion of an unstable trinucleotideCAG repeat in spinocerebellar ataxia type 1, Nature genetics, 422126 http://www.the-scientist.com/yr1994/dec/hot1_941212.html

The Scientist 8[24]:15, Dec. 12, 1994 Hot Papers Hot Paper #1 - Medical Genetics By Neeraja Sankaran Date : December 12, 1994 H.T. Orr, M. Chung, S. Banfi, T.J. Kwiatkowski, Jr., A. Servadio, A.L. Beaudet, A.E. McCall, L.A. Duvick, L.P.W. Ranum, H.Y. Zoghbi, "Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1," Nature Genetics, 4:221-26, 1993. (Cited in 114 publications through October 1994) The subject of this paper, the genetic basis of the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1), has been the focus of an ongoing collaboration between the laboratories of Harry Orr at the University of Minnesota, Minneapolis, and Huda Zoghbi at Baylor College of Medicine in Houston. "It demonstrates that the DNA mutation that causes SCA1 is the expansion of an unstable trinucleotideCAG, in this caserepeat in the coding region of the gene for a protein called ataxin 1," explains Orr, who is a professor of laboratory medicine and pathology and a member of the Institute of Human Genetics at Minnesota. "A normal genome can have anywhere from six to 39 repeats of the CAG unit. When the trinucleotide is transmitted from parent to child, it can grow in length, and this expansion causes the disease."

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