Geometry.Net - Basic_A: Ataxia Genetics

Medline Record 83183688
genetics physiopathology; Fibroblasts pathology; Friedreich's ataxiagenetics physiopathology; Skin pathology physiopathology.
http://www.aeiveos.com/Aging/Authors/holliday-r/83183688.html

Extractions: Title: Genetic effects on the longevity of cultured human fibroblasts. II. DNA repair deficient syndromes. Author(s): Thompson KV; Holliday R Address: Source: Gerontology 1983;29(2):83-8 Abstract: The lifespan of fibroblasts from genetic syndromes with reduced DNA repair or chromosome stability has been measured. Cells from Bloom's syndrome, Cockayne's syndrome, Fanconi's anaemia and 2 out of 3 cases of ataxia telangiectasia had a significantly reduced growth potential in comparison to controls. In each case the longevity of several parallel populations was measured and the greatest variability in lifespan was observed with Cockayne's syndrome cells. The fibroblasts from 1 ataxia telangiectasia patient and a Friedreich's ataxia patient grew to the passage levels seen in control cultures. The results suggest that repair processes are necessary for cells to achieve their maximum in vitro lifespan, and support the error theory rather than the programme theory of ageing Major Indexes: Minor Indexes: Aged Ataxia Telangiectasia [genetics] [physiopathology] Bloom Syndrome [genetics] [physiopathology] Cell Survival Cells, Cultured
Medline Record 91311481
diagnosis of MELAS was made. Major Indexes Cerebellar ataxia genetics;DNA, Mitochondrial genetics; Epilepsy, Myoclonic genetics;
http://www.aeiveos.com/Aging/Authors/byrne-e/91311481.html

Extractions: Title: Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA. Author(s): McKelvie PA; Morley JB; Byrne E; Marzuki S Address: Department of Pathology, University of Melbourne, Australia. Source: J Neurol Sci 1991 Mar;102(1):51-60 Abstract: Major Indexes: Minor Indexes: Reagent Names: Language: English
Genes At Work - Topics In Genetics
upon these recent molecular advances, adults with progressive AD ataxia can now take 19982002by The Center for Human and Molecular genetics (CHMG)/University
http://www.umdnj.edu/genesatwork/topics/adult_medicine/08_adult.htm

Extractions: by Beth A. Pletcher, MD, May 1999 Based upon these recent molecular advances, adults with progressive AD ataxia can now take advantage of the wide array of genetic tests designed to clearly define the subtype and possibly provide prognostic information. Testing should be considered based upon clinical symptomatology as well as family history. This could potentially provide asymptomatic individuals with information regarding their own future health, but it is most important to consider the risks versus benefits before proceeding with presymptomatic testing for a disorder with relatively few proven therapies and no preventative health care strategies currently under consideration. Genes at Work Home UMDNJ Home Top of page
Genes At Work - Topics In Genetics
for Referral to genetics by Presenting Symptom (unrelated to birth asphyxia/anoxia)Always. Hypotonia with or without weakness ataxia Mental retardation
http://www.umdnj.edu/genesatwork/topics/pediatrics/05_pediatrics.htm

Extractions: by Samuel G. Carruth, MD, March 2000 There are some key neurological and physical features that pediatric providers as well as neurologists should be aware of that give clues to possible genetic disorders. When children present with a particular pattern of neurological symptoms, unrelated to birth asphyxia/anoxia, infection, trauma or environmental causes, and distinctive physical features, a referral to a geneticist may be indicated for possible diagnostic genetic testing. Correct diagnosis of a genetic disorder is important because it may have implications for treatment, anticipatory guidance and family planning. The most common of these neurological symptoms include: mental retardation, developmental delay with or without language delay, hypotonia and ataxia. Associated neurological symptoms include: weakness, seizures, feeding difficulties, sensorineural hearing loss, vision loss, coordination abnormalities, decreased reflexes, exercise intolerance, voice changes and abnormal respiratory patterns which may include, but are not limited to, apnea or an acute life threatening event. When a combination of such symptoms are seen along with specific findings on physical exam, a genetic diagnosis can be highly suspected.
ATM - Ataxia Telangiectasia Mutated (includes Complementation Groups A, C And D)
ataxiatelangiectasia (PubMed) Limit search to Last Year Limit search to Last2 Years Limit search to Reviews Related Resources Breast Cancer genetics
http://www.cancerindex.org/geneweb/ATM.htm

Extractions: Search: Summary Information Location: Aliases: ATA, ATC Overview: Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, telangiectases, immunodeficiency, radiosensitivity and predisposition to lymphatic leukemias and other malignancies. There are a number of sub-types of AT and at least 4 of the complementation groups are associated with mutations in the ATM gene. Return to ATM Contents
Ataxia
Friedreichs ataxia, Molecular genetics ,. Mitochondrial disorders, ataxia telangiectasia,Alpha fetoprotein serum ; molecular genetics , if available.
http://www.rcpa.edu.au/pathman/ataxia.htm

Extractions: Ataxia Multiple sclerosis Alcoholism Post-traumatic Sensory Polyneuropathy See under Neuropathy Posterior column disorders eg Tumour Cervical spondylosis Subacute Combined Degeneration See under Vitamin B12 Deficiency Tabes dorsalis See under Syphilis Cerebellar Infarct Cerebellitis Tumour Paraneoplastic degeneration Purkinje cell (YO) antibodies Genetic Spinocerebellar ataxias Autosomal dominant disorders - Molecular genetics Molecular genetics Mitochondrial disorders Hyperammonaemia ... Organic acidaemias esp Glutaric aciduria type I Adrenomyeloneuropathy Very long chain fatty acids. Refsum disease Phytanate Lysosomal storage diseases Juvenile and adult forms. Wilsons disease Ataxia telangiectasia Alpha fetoprotein - serum molecular genetics , if available. Lesch-Nyhan syndrome Abetalipoproteinaemia
Scientists Identify Gene For Spinocerebellar Ataxia 2
JR; Figueroa, C.; Sahba, S. Moderate Expansion of a Normally Biallelic TrinucleotideRepeat in Spinocerebellar ataxia Type 2. Nature genetics, Vol. 14, No.
http://www.ninds.nih.gov/news_and_events/press_release_spinocerebellar_ataxia_2_
FRDA 1999-Friedreich's Ataxia Research Conference
for fundamental advances than Friedreich's ataxia it really is at the crossroadsright now of the very best, and most modern in genetics and mitochondrial
http://www.ninds.nih.gov/news_and_events/Friedreichs_Ataxia.htm

Extractions: Conference Summary On April 30-Mary 2, 1999, the National Institutes of Health (NIH) and FARA cosponsored a workshop on Friedreich's ataxia and the related sporadic ataxias. The workshop brought together eighty of the world's leading scientists with insights to contribute to the search for treatments and cures for Friedreich's ataxia (FRDA) and the related sporadic ataxias. NINDS Director, Dr. Gerald Fischbach, gave the opening address and set expectations very high by saying, "I don't think there is any disorder more primed for fundamental advances than Friedreich's ataxia it really is at the crossroads right now of the very best, and most modern in genetics and mitochondrial disorders and in understanding the cell biology of neural degeneration." That sense of real expectation and promise carried through the eight sessions and three days of discussion, as these scientists shared their insights and findings and began to test new hypotheses against the experience of their peers. It was clear that a great deal of progress had been made since identifying the FRDA disease gene and that several promising avenues of approach were emerging.
Pipet's Parlour: Frataxin: References
F., Koenig, M., Sidi, D., Munnich, A., and Rustin, P. Aconitase and mitochondrialironsulphur protein deficiency in Friedreich ataxia. Nature genetics 17, 215
http://www.geocities.com/CapeCanaveral/Lab/6801/refer.html

Extractions: Deciphering the Role of Frataxin 4. References Durr, A. Cossee, M., Agid, Y. Campuzano, V., Mignard, C., Penet, C., Mandel, J.L., Brice, A., and Koenig, M. Clinical and genetic abnormalities in patients with Friedreich's ataxia. New England Journal of Medicine Finocchiaro, G. Baio, G., Micossi, P., Pozza, G., and Di Donato, S. Glucose metabolism alterations in Friedreich's ataxia. Neurology Wood, N. Diagnosing Friedreich's ataxia. Archives of Disease in Childhood Campuzano, V., Montermini, L., Molto, M.D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Canizares, J., Koutnikova, H., Bidichandani, S.I., Gellera, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., De Frutos, R., Palau, F., Patel, P.I., Di Donato, S., Mandel, J-L., Cocozza, S., Koenig, M., and Pandolfo, M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA repeat expansion. Science Koutnikova, H., Campuzano, V., Foury, F., Dolle, P., Cazzalini, O., and Koenig, M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
Pipet's Parlour: Friedreich's Ataxia
ataxia Research While my project is now over, I still have an ongoing interestin current research. Since my PhD research is also in human genetics, I
http://www.geocities.com/CapeCanaveral/Lab/6801/frataxin.html

Extractions: Read my mock research proposal, Deciphering the Role of Frataxin . It was written to partially fulfill the first qualifying exam of my PhD program. In it I propose experiments that could help identify a function for frataxin, the protein known to cause the devastating effects of the disease, give background info , and discuss specific experimental methods Friedreich's ataxia links
Ataxia A Serious Medical Condition. Resources To Obtain And
ataxiaTelangiectasia genetics, Neuropathology, and Immunology of a DegenerativeDisease of Childhood (Kroc Foundation Series, Vol 19) Richard A. Gatti
http://databank.oxydex.com/compendium_bibliographium/advanced_medical_specialtie
UCLA Human Genetics
Present); Genotyping Core Research Associate, Department of Human genetics, UCLASchool Genotyped ataxia telangiectasia (ATM) gene on human chromosome 11q23.1;
http://www.genetics.ucla.edu/sequencing/profiles/uma_profile.html
Neuroscience Graduate Program Prospective Students
LJ Schut, KA Benzow, TD Bird, JW Day, LPW Ranum (1999) An untranslated CTG expansioncauses a novel form of spinocerebellar ataxia (SCA8) Nature genetics 21379
http://www.neuroscience.umn.edu/ProStu/facprof/ranum.html

Extractions: Many neurodegenerative diseases begin later in life after the nervous system is fully developed. The biochemical bases for the initiation of the degenerative processes are not understood. A major step towards a better understanding of neurodegenerative diseases was made with the discovery that microsatellite repeat expansions are responsible for a number of these diseases. Our group is primarily focused on understanding how repeat expansions expressed at the RNA but not the protein level cause myotonic dystrophy and ataxia. Myotonic Dystrophy: The inheritance pattern of SCA8, though generally dominant, is complicated, showing reduced penetrance and a strong maternal penetrance bias. Surprisingly, molecular analyses of this expansion revealed that, unlike other SCA CAG mutations, the SCA8 expansion is not translated as a polyglutamine tract. Rather, the expanded repeat is an untranslated CTG expansion near the 3' end of a naturally occurring antisense transcript. Myotonic dystrophy type 1 is the only other disease known to be caused by an untranslated CTG expansion. SCA8 has the clinical features typical of spinocerebellar ataxia, whereas the untranslated CTG expansion responsible for this disease has the molecular characteristics that had previously only been seen for myotonic dystrophy. We are generating mouse models to address the pathogenesis of SCA8. One of these models has developed a progressive and lethal neurological phenotype. We are currently investigating the CNS pathology of these mice. Further clinical and molecular characterization of both DM2 and SCA8 and the correlation of these findings to those from both DM and the polyglutamine SCAs should prove to be a fruitful means of more fully understanding the pathophysiology of both ataxia and myotonic dystrophy.
GeneClinics: Diseases And Overviews
ataxia Overview ataxia with Oculomotor Apraxia ataxiaTelangiectasia Atelosteogenesis DeficiencyBranchiootorenal Syndrome Breast Cancer genetics - An Overview
http://www.geneclinics.org/profiles/
Department Of Medical Genetics
DEPARTMENT OF MEDICAL genetics. UNIVERSITY OF CALGARY. MOLECULAR DIAGNOSTICLABORATORY. Friedreich ataxia. See triplet repeat disorders. HNPCC.
http://www.ucalgary.ca/UofC/faculties/medicine/medgenetics/m-info.htm

Extractions: Achondroplasia. See Angelman syndrome. APC , FAP, polyposis coli, familial adenomatous polyposis. Apert syndrome. See Beckwith-Wiedemann syndrome. Colon cancer. See APC or HNPCC Crouzon syndrome. See Cystic fibrosis DRPLA, dentatorubralpallidoluysian atrophy. See triplet repeat disorders. FSHD , facioscapulohumeral muscular dystrophy. mutations. mutations. FMTC , familial medullary thyroid carcinoma. Fragile X syndrome, FMR-1, FRAXA. See triplet repeat disorders. FRAXE, FMR-2, Fragile X site E. See triplet repeat disorders. Friedreich ataxia. See triplet repeat disorders. HNPCC . Hereditary non-polyposis colon cancer. Huntington disease. See triplet repeat disorders. Hypochondroplasia. See Jackson-Weiss syndrome. See Machado-Joseph disease, SCA3. See triplet repeat disorders. , multiple endocrine neoplasia type 2A. , multiple endocrine neoplasia type 2B. Myotonic dystrophy. See triplet repeat disorders. Paternity testing.
ATAXIA-TELANGIECTASIA (A-T) Awareness Day For Ataxia-Telangiectasia (A-T) 20 Nov
Why it is Important to Identify Cases of ataxiaTelangiectasia Professor SandyRaeburn, Centre for Medical genetics, University of Nottingham. Top of page.
http://www.atappeal.org.uk/aware1.htm

Extractions: Nottingham City Hospital Ataxia-Telangiectasia (A-T) is a rare autosomal recessive disorder involving cerebellar ataxia, immunodeficiency, oculocutaneous telangiectasia, chromosomal instability, hypersensitivity to ionising radiation and a predisposition to malignancy. Female A-T heterozygotes may have an increased risk of breast cancer. Knowledge of this little-known condition could hold crucial clues for understanding many other serious conditions that affect everyone. The purpose of the day was to promote awareness, interest and understanding of A-T amongst medical and healthcare professionals, with a view to improving management and aiding the diagnosis of A-T. The day was open to professionals planning to specialise in, or already specialising in, paediatrics, neurology, genetics, oncology and immunology, who would like to learn about this possibly under-diagnosed condition. This includes post-graduates, medical students, therapists and those who already have an involvement with A-T. It was an opportunity to meet other interested professionals and to stimulate discussion about A-T. PROGRAMME Chairman for the Morning Session: Prof Sandy Raeburn Welcome Jeff Watkins of The A-T Appeal Ataxia Telangiectasia: 1926 - 1997 - An Introduction Professor Sarah Bundey, Department of Clinical Genetics, Birmingham Women's Hospital
ATAXIA-TELANGIECTASIA (A-T) ATAXIA-TELANGIECTASIA (A-T), Dr Howard M Lederman, T
Why it is Important to Identify Cases of ataxiaTelangiectasia ProfessorSandy Raeburn, Centre for Medical genetics, University of Nottingham.
http://www.atappeal.org.uk/summaryhl.htm

Extractions: The following is a summary of Dr Lederman's talk for the A-T Study/Awareness Day on 20 November 1997 at Nottingham City Hospital's Post-Graduate Education Centre, organised by The A-T Appeal Immunologic abnormalities are common among patients with A-T. There is a progressive T-lymphocytopenia with anergy (lack of delayed-type hypersensitivity skin tests responses) in as many as 25% of patients. However, clinically important cellular immunodeficiency is quite rare except for the presence of chronic/disseminated warts in a minority of patients. Abnormalities of humoral immunity are common and also progressive. Approximately 50% of A-T patients will develop IgA deficiency. A smaller number will have deficiencies of one or more IgG subclasses, or problems producing antibody in response to vaccines. We have recently identified monoclonal or oligoclonal gammopathies in almost 10% of A-T patients. The significance of this finding is not known, but several of the patients have developed arthritis, splenomegely and hyperviscosity. The most frequent and serious infections in A-T patients involve the lungs (bronchitis and pneumonia). In some individuals, underlying immunodeficiency plays an important role in susceptibility to infection. In other cases, the susceptibility to lung infection results from dysfunctional swallow, ineffective cough reflex, and aspiration.
Ocular Motor Apraxia: The Genetics Of OMA
I am very interested in the genetics of OMA. Has anyone been confronted withthe possibility of 'ataxia Telangiectasia' regarding their child.
http://wwweb.org/oma/messages/218.html

Extractions: I am very interested in the genetics of OMA. I have spoken with a wonderful geneticist in the past regarding my son and she said that my husband, Jason, and I should both be tested for genetic abnormalities. Has anyone been confronted with the possibility of 'Ataxia Telangiectasia' regarding their child. It is my understanding that OMA can be a product of Ataxia. Generally, the geneticist said that, children who are improving with OMA will NOT have Ataxia, but I am scared to death to have another child with this possibility looming over our heads. Usually Ataxic children die in early adolescence. We are very grateful for our son Jamie, who was diagnosed with OMA by DR. Hoyt in San Fran. For the first 1+ year of his life he was diagnosed with Opsyclonus/Myoclonus, which has a very undesirable prognosis. Jamie is the light of our lives and we would love to be able to give him a brother or sister some day because he is so loving and wants to be around other children. I would not mind the possibility of having another OMA child, since the difficulties are not so great that they will never experience the joy of a 'normal' life. Jamie is abnormal in only the most special ways. Any information you could share would be helpful.
Ocular Motor Apraxia: Re: The Genetics Of OMA
at 3 months of age gave us the ataxia diagnosis which turned out to be wrong. Howis your child's condition now? I am very interested in the genetics of OMA.
http://wwweb.org/oma/messages/353.html

Extractions: I am new to the internet and am just discovering this wealth of knowledge. Have you had any responses to your message? I have a 13 year old son with Ocular Motor Apraxia. The first neurologist we saw when he was at 3 months of age gave us the Ataxia diagnosis which turned out to be wrong. How is your child's condition now?:: I am very interested in the genetics of OMA. I have spoken with a wonderful geneticist in the past regarding my son and she said that my husband, Jason, and I should both be tested for genetic abnormalities. Has anyone been confronted with the possibility of 'Ataxia Telangiectasia' regarding their child. It is my understanding that OMA can be a product of Ataxia. Generally, the geneticist said that, children who are improving with OMA will NOT have Ataxia, but I am scared to death to have another child with this possibility looming over our heads. Usually Ataxic children die in early adolescence. :: We are very grateful for our son Jamie, who was diagnosed with OMA by DR. Hoyt in San Fran. For the first 1+ year of his life he was diagnosed with Opsyclonus/Myoclonus, which has a very undesirable prognosis. Jamie is the light of our lives and we would love to be able to give him a brother or sister some day because he is so loving and wants to be around other children. I would not mind the possibility of having another OMA child, since the difficulties are not so great that they will never experience the joy of a 'normal' life. Jamie is abnormal in only the most special ways.
TGAC.ORG
The annual meeting provides an opportunity for those affected by ataxia to hearspeakers address such topics as ataxia research, genetics, clinical management
http://www.tgac.org/archive/March_15__2001.html

Extractions: March 15, 2001 With the White House expected to present a detailed budget for the 2002 fiscal year to Congress on April 3, discussion is growing about the likely impact the budget will have on biomedical research including genetics issues. Already we know that the President will ask for a $2.8 billion increase for the National Institutes of Health (NIH). This would represent the largest increase ever requested by any administration for NIH. However, it still falls short of the $3.4 billion that health care advocates including The Genome Action Coalition are seeking as the fourth step in a five-year program to double the NIH budget. Because of strict budget caps overall and the possibility that insufficient funds will be allocated to health funding by the Budget Committee, whichever level is ultimately appropriated may result in pressure to cut other programs in the Labor-HHS bill and maybe even within the Public Health Service. This creates the unfortunate possibility of pitting NIH against the Centers for Disease Control and Prevention (CDC) and the Health Resources and Services Administration (HRSA). Both of these agencies operate genetics programs themselves (within the National Center for Environmental Health and the Maternal and Child Health Bureau, respectively) that play important roles in bringing research to practice.

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