Geometry.Net - Basic_A: Ataxia Genetics

82. Academic Bibliography For Del- Favero, Jurgen
of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominantcerebellar ataxia with retinal degeneration. In Human genetics, 105(1999
http://lib.ua.ac.be/AB/a16671.html
Del- Favero, Jurgen
Go to the STARTSCREEN The author belongs to:
UIA Departement Biochemie
Years:
Massat I. Souery D. Del- Favero J. Oruc L. Blackwood D. Thomson M. Muir W. Papadimitriou G.N. Dikeos D.G. Kaneva R. Serretti A. Lilli R. Smeraldi E. Jakovljevic M. Folnegovic V. Rietschel M. Milanova V. Valente F. Van Broeckhoven C. Mendlewicz J. - In: Molecular psychiatry , 7(2002), p. 201-207
Villafuerte S.M. Del- Favero J. Adolfsson R. Souery D. Massat I. Mendlewicz J. Van Broeckhoven C. Claes S. Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression. - In: American journal of medical genetics , 114(2002), p. 222-226
De Jonghe Peter Mersivanova Irina Nelis Eva Del- Favero Jurgen Martin Jean-Jacques Van Broeckhoven Christine Evgrafov Oleg Timmerman Vincent Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. - In: Annals of neurology , 49:2(2001), p. 245-249
Claes L. Del- Favero J. Ceulemans B. Lagae L. Van Broeckhoven C. De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. - In: American journal of human genetics , 68:6(2001), p. 1327-1332

83. Molecular Genetics & Biochemistry
Molecular genetics and Biochemistry. proteins that share homology to the phosphatidylionositol3-kinase (PI-3K) that include ATM (ataxia telangiectasia mutated
http://www.mgb.pitt.edu/personnel/rajasekaran_baskaran.htm
RAJASEKARAN, BASKARAN
Home Search Site Map Help
Baskaran Rajasekaran, Ph.D. Molecular Genetics and Biochemistry East 1205/W1206/W1251 Biomedical Science Tower University of Pittsburgh School of Medicine Pittsburgh, PA 15219 Email: bask@pitt.edu Baskaran Rajasekaran, Ph.D.,
Assistant Professor,
DNA damage-induced cell signaling
Cell Cycle Regulation, DNA repair and Growth Control Funding Resources
National Institute of Health (NIH-RO1) 2001-2005
American Cancer Society (ACS-RPG) 2002-2004
National Cancer Institute 2000-2001 Publications Brown KD, Rathi A, Kamath R, Beardsley DI, Zhan Q, Mannino JL, Baskaran R. (2003). The mismatch repair system is required for S-phase checkpoint activation. Nat Genet. Zhan Q, Jin S, Ng B, Plisket J, Shangary S, Rathi A, Brown KD, Baskaran R. (2002).Caspase-3 mediated cleavage of BRCA1 during UV-induced apoptosis. Oncogene. Lan Z, Sever-Chroneos Z, Strobeck MW, Park CH, Baskaran R, Edelmann W, Leone G, Knudsen. ES. (2002). DNA damage invokes mismatch repair-dependent cyclin D1 attenuation and retinoblastoma signaling pathways to inhibit CDK2. J Biol Chem.

84. Tokyo Medical University Genetics Link Pages
Medical University Department of Paediatircs genetics Study Group (ataxiaTELANGIECTASIA (AT) CHILDREN'S PROJECT HOME
http://www.tokyo-med.ac.jp/genet/links/hid.htm
Tokyo Medical University
Department of Paediatircs
Genetics Study Group
Hironao NUMABE, M.D.
E-mail: hnumabe@tokyo-med.ac.jp
Sorry! Only in Japanese.
tEÅEÆu¾³ Ñ×Çg£«¸²Ç Ñ×Çg£«¸²Ç¬væ(ATAXIA-TELANGIECTASIA (A-T) CHILDREN'S PROJECT HOME PAGE):
Ñ×Çg£«¸²Ç(ataxia telangiectasia)Ìa¼Ì¹@©çC âãtÉÎµÄÌ ffîñ ÈÇªLÚ³êÄ¢éD Fa Faz[y[W(Hemophilia Home Page (Bleeding Disorders, Haemophilia)):
Fa³ÒÉæèì¬³ê½OÌTCgDâ`âHIV/AIDSÖAÌîñàLÚ³êÄ¢éD Tokyo Medical University Home Pediatrics Home Genetics Home

85. Development And Neurobiology: Genetics Of Childhood Disorders: Triplet Repeat Di
Spinocerebellar ataxia type 8, unlike the other spinocerebellar ataxias in whichthe of triplet repeat mutations solved a longstanding enigma in genetics.
http://info.med.yale.edu/chldstdy/plomdevelop/genetics/99decgen.htm

J Am Acad Child Adolesc Psychiatry,38:12, 1598-1600 December 1999
Russell L. Margolis, M.D., and Christopher A. Ross, M.D., Ph.D. Trinucleotide, or triplet, repeats consist of 3 nucleotides consecutively repeated (e.g., CAG CAG CAG CAG) within a region of DNA. All possible combinations of nucleotides are known to exist as triplet repeats, although some are more common than others. These repeated sequences are found both within gene boundaries and in the large stretches of DNA that lie between genes. If the triplet repeats lie within a gene, they may be found within the flanking upstream promoter region, within exons, or within introns. If they lie within exons, they may be present in the sequence that will be translated into protein. In that case, the repeat encodes a series of identical amino acids. The triplets may also occur at the 5' or 3' untranslated portion of the transcript. The different regions in which triplet repeats may lie are summarized in Figure 1
Thousands of trinucleotide repeats exist throughout the human genome. Many are the same length in all individuals, while others are of variable length. The variable, or polymorphic, repeats are almost always transmitted without change in length from one generation to the next. However, some do change in length when passed on, and when that occurs, the gene is often disrupted.

86. FRIEDREICH'S ATAXIA (ANALYSIS OF THE FRDA GENE)
Friedreich's ataxia (analysis of the FRDA gene). Date of birth; Hospital numberor genetics number; Date; Signature of the person collecting the specimen.
http://www.exeterhospitals.co.uk/pathology/exepath/indexf/fried.htm
Friedreich's ataxia (analysis of the FRDA gene) Sample type : EDTA Minimum sample volume : 2 x 7.5 ml Reporting time : 1 - 8 weeks Sample labelling : The sample should indicate -
Date of birth Hospital number or genetics number Date Signature of the person collecting the specimen
Other Information : Friedreich's 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 expression on one allele and a point mutation in the other. Analysis of the (GAA)n repeat within the FRDA gene is carried out by PCR/agarose gel electrophoresis and sizing of normal range alleles using an ABI PRISM 377 TM DNA Sequencer. Department responsible for analysis Molecular genetics (Laboratory contact Dr. S. Ellard)
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87. Arch Neurol -- Page Not Found
Spinocerebellar ataxia type 6 accounts for approximately 11% of all Dutch Text Author/ArticleInformation From the Departments of Medical genetics (Drs Sinke
http://archneur.ama-assn.org/issues/v58n11/abs/noc10004.html
Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress
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88. What Can Be Done?
How Therapy can help improve the quality of life More on Therapy The genetics ..Why do some people have Friedreich's ataxia? More on genetics.
http://www.fan.asn.au/what-can-be-done.html
WHAT CAN BE DONE?
Firstly in answer to this question it is all about how much you want to do. There is help available to'FAer's for most of the symptoms or questions that you may have, and there is the support groups (like FAN), exercise SPORTING WHEELIES
Published by Friederichs Ataxia Group Surrey UK ......
How Therapy can help improve the quality of life
More on Therapy
The Genetics .....Why do some people have Friedreich's Ataxia?
More on Genetics
Queensland Genetics Education Program
Queensland Clinical Genetics Service
Royal Children's Hospital and Health Services District
Brisbane QLD 4029
Phone: 07 3636 1686 Fax: 07 3636 1987 Email: qcgs@health.qld.gov.au The Ataxia Group 10 Winnchester House Kennington Park 11 Cranmer Road London SW9 6EJ Email: office@ataxia.org.uk This is a research unit, and they keep me up to date on the latest studies that are taking place in Europe and the UK. Their site Ataxia is very informative. Go to CURRENT RESEARCH to find the latest developments. Ruth Barker Neurological Disorders, Ageing and Balance Clinic

89. Department Of Genetics - Faculty & Staff
Louisiana State University Department of genetics New Orleans, LA 70112
http://www.medschool.lsumc.edu/genetics/Faculty.html
Go to Faculty Member by Name... Bronya J. B. Keats, Ph.D Mary Z. Pelias, Ph.D, J.D Diptasri Mandal, Ph.D Ed Grabczyk Ph.D. Paula Gregory, Ph.D. Bo Xu, M.D., Ph.D. -Conjoint Faculty- Kevin Brown, Ph.D J. Craig Cohen, Ph.D Yan Cui, Ph.D. William Fisher, Ph.D James R. Gnarra, Ph.D. Jay K. Kolls, M.D Yves Lacassie, M.D Michael Lan, Ph.D Michael Marble, M.D Donald E. Mercante, Ph.D Jakob Reiser, Ph.D Douglas W. Scheer, Ph.D Paul Schwarzenberger, M.D. Ioan Talfryn Thomas, M.B.,B.Ch. Guoshun Wang, D.V.M., Ph.D. Adjunct Faculty- Mark Batzer, Ph.D. John Doucet, Ph.D Karen Weissbecker-Remer, Ph.D Site Map.... Department Home Page Program Overview Graduate Program Research - Administration - Research Personnel Graduate Students Contact Us Job Opportunities Search for Faculty by Subject... Ataxia Telangiectasia Gene Function Birth Defects Cardiovascular Disease Comparative Genomics Cytokine Biology Diabetes DNA Repeat Expansion Disorders Dysmorphology Friedreich Ataxia Gene Therapy Genetics of Hearing Loss and Ataxia Genetics of Lung and Prostate Cancer In utero Gene Therapy Legal and Ethical Issues in Genetics Lentivirus-based Vectors Metabolic Disorders Probabilistic scaling models Statisical Design Faculty Listing Web site maintained by Judy LaBorde Louisiana State University Department of Genetics New Orleans, LA 70112

90. Medical Genetics
The Medical genetics site is to supplement the Medical genetics text book written by Jorde et. al. in medical education. Medical genetics 2nd Edition gives students the they need to understand modern genetics. It starts with overview of basic molecular genetics, then explores chromosomal and
http://medgen.genetics.utah.edu/
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91. Friedreich's Ataxia With Retained Tendon Reflexes: Molecular Genetics, Clinical
M. and Dichgans, J. Friedreich's ataxia with retained tendon reflexes moleculargenetics, clinical neurophysiology, and magnetic resonance imaging Neurology.
http://www.medizin.uni-tuebingen.de/~rtkolb/neurorad/publi/abstracts/96-007.html
Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging
Neurology. 1996 Jan; 46(1): 118-21
Abstract Lower limb areflexia is generally regarded as an essential criterion for the diagnosis of Friedreich's ataxia (FRDA). We describe a family with a recessive form of early-onset ataxia in which one member had a phenotype typical of FRDA whereas another, with retained tendon reflexes in the lower limbs, did not have electrophysiologic evidence of the usual severe afferent axonal neuropathy of FRDA. In contrast, somatosensory evoked potentials, eye-movement recordings, and MRI of the head and cervical cord provided results highly suggestive of FRDA in both patients. We performed genetic linkage analysis in this family, using markers tightly linked to the FRDA locus on chromosome 9. Inheritance of identical paternal and maternal genotypes by the affected members, but not by their unaffected siblings, provided supporting evidence that this disorder may result from mutation within the FRDA gene or is tightly linked to the investigated loci on chromosome 9. Links to: Publications of Dept. of Neuroradiology

92. The Hospital For Sick Children: Genetics
Cancer genetics; Molecular genetics of the chromosome instability syndromesataxiatelangiectasia, Werner syndrome, Bloom syndrome and Fanconi anemia;
http://www.sickkids.on.ca/cgenetics/smeyn.asp
Dr. Stephen Meyn MD, PhD, FRCPC, FACMG
Title in Genetics Department: Staff Clinician Scientist Position Description:
Professor Department of Molecular and Medical Genetics, Department of Paediatrics, University of Toronto Senior Scientist Genetics and Genomic Biology Programme, Reserach Institute, The Hospital for Sick Children
Research Interests:
Cancer Genetics Molecular Genetics of the chromosome instability syndromes: ataxia-telangiectasia, Werner syndrome, Bloom syndrome and Fanconi anemia DNA repair, genetic recombination and aging
Recent, Reflective Publications:

Xu Y, Bronson RT, Brainerd EE, Ashley T, Meyn MS, Baltimore D. "Targeted disruption of Atm leads to growth retardation, chromosomal fragmentation during meiosis, immune defects and thymic lymphoma." Keegan KS, Holtzman DA, Plug AW, Brainerd EE, Christenson ER, Bentley, Taylor EM, Meyn MS, Moss SB, Carr AM., Ashley T, Hoekstra M. "The ATR and ATM protein kinases associate with different sites along meiotically pairing chromosomes." Fritz E, Elsea SH, Patel PI, Meyn MS. "Overexpression of a human topoisomerase III protein alleviates multiple aspects of the ataxia-telangiectasia phenotype"

93. DNA Diagnostic Laboratory - List Of Diagnostic Tests - Medical Genetics Laborato
Fragile X Syndrome (FX, FRAXA) DNA Analysis. Friedreich ataxia (FRDA) DNA Analysis. Spinocerebellar ataxia Type 1 (SCA1) DNA Analysis.
http://imgen.bcm.tmc.edu/medgen/tests/dna_list.html
Achondroplasia (ACH)
DNA Analysis a -1-Antitrypsin Deficiency (AAT)
DNA Analysis Angelman Syndrome (AS)
DNA Methylation Analysis
UBE3A Sequence Analysis
FISH Analysis APC Gene Mutation In The Ashkenazim
DNA Analysis
DNA Sequence Analysis Ashkenazi Genetic Disease Screen
DNA Analysis
Bloom Syndrome
DNA Analysis Canavan Disease (CD) DNA Analysis CFTR 5T Variant Analysis DNA Analysis Connexin 26 ( Gene) DNA Analysis Cystic Fibrosis (CF) DNA Analysis Dentatorubral Pallidoluysian Atrophy (DPRLA) DNA Analysis Duchenne/Becker Muscular Dystrophy (DMD/BMD) DNA Analysis DNA Sequence Analysis FISH Analysis Factor V Leiden ( DNA Analysis Factor VIII Deficiency DNA Analysis Familial Dysautonomia (FD) DNA Analysis Fragile X Syndrome (FX, FRAXA) DNA Analysis Friedreich Ataxia (FRDA) DNA Analysis Gaucher Disease (GD) Biochemical Analysis DNA Analysis Gene (Connexin 26) DNA Analysis Hemochromatosis DNA Analysis Hemophilia A (FV III) DNA Analysis Hereditary Hearing Loss (HHL) DNA Analysis Hereditary Hemochromatosis (HH) DNA Analysis Huntington Disease (HD) DNA Analysis Incontinentia Pigmenti (IP) DNA Analysis Kennedy Disease (KD) DNA Analysis Lowe Syndrome Biochemical Analysis DNA Analysis MTHFR Variant Analysis DNA Analysis Myotonic Dystrophy (MDY, DM1)

94. Doença Machado-Joseph
dates in reverse chronological order * President, Portuguese Society of HumanGenetics (1998) * Secretary / interim president, ataxia Research Group (ARG
http://webhome.idirect.com/~albri/jscurrpt.html
DOENÇA MACHADO-JOSEPH Última Actualização:
10 de Setembro de 2000
Prof. Associado Dr. Jorge Sequeiros
CURRICULUM VITÆ
Name: António Jorge dos Santos Pereira de Sequeiros
Place and date of birth: Porto, 28th October 1952
Nationality: Portuguese
Institutional address: UnIGENe,
Instituto de Biologia Molecular e Celular (IBMC), Univ.Porto
Rua do Campo Alegre, 823
4150-180 Porto Portugal Telephone (351) 22 607 49 42 Telefax (351) 22 609 91 57 Email: jsequeir@ibmc.up.pt Academic degrees, fields of study, awarding institut., dates in rev. chronological order 1990 Ph.D. in Genetics (Doctorate), ICBAS, Univ. Porto. 1987 Graduation as specialist in Medical Genetics 1987 Graduation as specialist in Internal Medicine 1985 Competence in Medical Genetics, Ordem dos Médicos (Portuguese Medical Association) 1982-85 Fellowship in Medical Genetics, Johns Hopkins Hospital, Baltimore, MD. 1982 ECFMG (Educat. Comm. Foreign Med. Grad.) Certificate

95. Spinocerebellar Ataxia (SCA)
Spinocerebellar ataxia (SCA). Rapid alternating movements were slowed and clumsy,and there was mild fingerto-nose and considerable heel-to-shin ataxia.
http://www.athenadiagnostics.com/site/content/diagnostic_ed/case_studies/sca.asp
Spinocerebellar Ataxia (SCA)
Case Study A
A 35-year-old woman presented with progressive gait difficulties and speech difficulties since the age of 28. There was a strong family history of a similar disorder inherited in a dominant fashion. On examination, mental status and language were normal. There was mild scanning dysarthria. There was no visual loss and fundi were normal. Examination of eye movements revealed mild slowing of saccades, gaze-evolved nystagmus, and mild restriction of upgaze. There was no facial atrophy or perioral fasciculation; tongue was normal. Muscle strength, tone, and bulk were normal and there was no rigidity or tremor of any kind. Rapid alternating movements were slowed and clumsy, and there was mild finger-to-nose and considerable heel-to-shin ataxia. Deep tendon reflexes were uniformly brisk, and gait was ataxic, but the plantar responses were flexor. MRI of the brain showed pontocerebellar atrophy. Analysis of the CAG repeats in the MJD locus revealed a normal allele with 36 repeats and an expanded allele with 78 repeats. Therefore, the diagnosis of Machado-Joseph Disease (MJD) was made.
Neurological Disorders
Alzheimer's
Neurogenetic
Paraneoplastic ... Accreditations and Licensing

96. Special Needs Family Friendly Fun - Genetic Hereditary Inherited
http//www.mpssociety.co.uk myGeneticMD myGeneticMD Integrating Geneticsinto Healthy Living http//www.mtmrg.org National ataxia Foundation
http://www.family-friendly-fun.com/links/genetichereditaryinherited.html
Links Portal
Offering family friendly fun and special needs resources that enhance the quality and fun of family life for special needs families.
Family friendly fun
Site map Site
Our mission is to: enable families with special needs to share their experiences by subscribing to our newsletter , joining our eGroup forum, talking in our chat room and posting to our bulletin board ; offer information on a wide variety of family fun and special needs topics ; and facilitate access via rings and links to websites relevant to special needs families. Adoption Arts Crafts Babies Charities ... Work at home
Genetic Hereditary Inherited
Other important Genetic Hereditary Inherited links:
Alpha One Foundation...
The Alpha-1 Foundation is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection and a cure for Alpha-1....
http://www.alphaone.org
Andrew's Buddies - Fight Spinal Muscular Atrophy...
Andrew's Buddies fights spinal muscular atrophy, the leading genetic and inherited cause of infant death. We fund neuromuscular research and SMN, SMA non-profit drug trials....
http://fightsma.com

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