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         Ataxia Genetics:     more books (24)
  1. Ataxia-telangiectasia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Genevieve, PhD Slomski, 2005
  2. Friedreich ataxia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Toni, MS, CGC Pollin, 2005
  3. Spinocerebellar ataxia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
  4. Ataxia-telangiectasia: Genetics, neuropathology, and immunology of a degenerative disease of childhood : proceedings of a conference held in Solvang, California, ... 16-20, 1984 (The Kroc Foundation series)
  5. The Hereditary Ataxias and Related Disorders (Clinical Neurology and Neurosurgery Monographs, Volume 6) by A. E. Harding, 1984-12
  6. Autosomal dominant spinocerebellar ataxia: A genetic linkage map of genes associated with the disease locus by Patricia Jean Wilkie, 1988
  7. Ataxia-Telangiectasia: Genetics, Neuropathology, & Immunology of the Degenerative Disease of Childhood
  8. Invited Comments.(spinocerebellar ataxia) : An article from: Neurology India
  9. High prevalence of spinocerebellar ataxia type 1 in an ethnic Tamil community in India.(Original Article) : An article from: Neurology India
  10. The Official Parent's Sourcebook on Friedreich's Ataxia: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18
  11. On hereditary ataxia and spastic paraplegia (The treasury of human inheritance) by Julia Bell, 1939
  12. Ataxia-telangiectasia: A practical guide for genetics professionals: (Dissertation) by Jennifer Schmidt, 2005-12-01
  13. Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanism in related Amish sibships by Victor A McKusick, 1966
  14. Ataxia-Telangiectasia (Nato a S I Series Series H, Cell Biology) by Richard A. Gatti, 1993-10

1. Ataxia
Spinocerebellar ataxia brochure Making an Informed Choice About Genetic Testing(pdf file), Genetic Testing for Neurological Conditions, Medical genetics and
http://www.kumc.edu/gec/support/ataxia.html
Ataxia (hereditary ataxias, Friedreich ataxia, ataxia telangiectasia, essential tremor, spastic paraplegia, spinocerebellar ataxia)
National Ataxia Foundation
Support Groups 2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447
Phone: 763.553.0020
Fax: 763.553.0167
E-mail: naf@ataxia.org Web site: http://www.ataxia.org/
Ataxia Telangiectasia Children's Project
668 South Military Trail Deerfield Beach, FL 33442-3023 Phone: 800.543.5728 or 954.481.6611 Fax: 954.725.1153 E-mail: info@atcp.org Web site: www.atcp.org
Friedreich Ataxia Parents Group (FAPG)
Web site: http://www.fortnet.org/fapg/
HSFinfo.org Hereditary Spastic Paraplegia, Familial Spastic Paraparesis National Friedreich Ataxia Group
Room 10, Winchester House
Kennington Park, Cranmer Rd
London SW9 6EJ England
Phone: 020 7582 1444
Fax: 020 7582 9444 Web site: http://glaxocentre.merseyside.org/asg.html
Also See:

2. Hereditary Ataxia Overview
Funded by the NIH Developed at the University of Washington, Seattle. Hereditary ataxia Overview. Author Thomas D Bird, MD. About the Author. Initial Posting 28 October 1998. Last Revision 23 January 2004. Summary cause human Cayman ataxia and ataxia/dystonia in the spinocerebellar ataxia. Neurology 5114236 Medline Hammans SR (1996) The inherited ataxias and the new genetics
http://www.geneclinics.org/profiles/ataxias/details.html
Hereditary Ataxia Overview
Author: Thomas D Bird, MD
About the Author

Initial Posting:
28 October 1998 Last Revision
27 May 2004
Summary
Disease characteristics. The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. The hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus Diagnosis/testing. Genetic forms of ataxia must be distinguished from the many acquired (non-genetic) causes of ataxia. The genetic forms of ataxia are diagnosed by family history , physical examination, and neuroimaging. Molecular genetic tests are available in clinical laboratories for the diagnosis of SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia 1, DRPLA, Friedreich ataxia (FRDA), and autosomal recessive spastic ataxia of Charlevoix-Saguenay. Genetic counseling The hereditary ataxias can be inherited in an autosomal dominant autosomal recessive , or X-linked manner.

3. Friedreich Ataxia - Genetics Home Reference
You may find the following resources about Friedreich ataxia helpful. Genesand Disease This link leads to a site outside genetics Home Reference.
http://ghr.nlm.nih.gov/condition=friedreichataxia
A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Friedreich ataxia
Friedreich ataxia
What is Friedreich ataxia?
Friedreich ataxia is a genetic condition that damages nerve tissue, causing a loss of muscle coordination (ataxia) that worsens over time. Other characteristics of this condition include the gradual loss of strength and sensation in arms and legs, muscle stiffness (spasticity) in the limbs, and impaired speech. Friedreich ataxia may also affect heart function.
How common is Friedreich ataxia?
Friedreich ataxia is estimated to affect 1 in 40,000 people.
What genes are related to Friedreich ataxia?
Mutations in the FRDA gene cause Friedreich ataxia.

4. Ataxia - Glossary Entry - Genetics Home Reference
ataxia Glossary Entry. Definition(s). An disorders. Definition from MedlinePlusThis link leads to a site outside genetics Home Reference.
http://ghr.nlm.nih.gov/ghr/glossary/ataxia
A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Glossary
Ataxia - Glossary Entry
Definition(s)
An inability to coordinate voluntary muscular movements that is symptomatic of some nervous disorders. Definition from: MedlinePlus at the National Library of Medicine Genetics Home Reference obtains definitions from several sources Published: May 28, 2004 This is a page from Genetics Home Reference Contact Us Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine ... Accessibility

5. Ataxia-telangiectasia - Genetics Home Reference
Conditions. Genes. Understand genetics. Resources. Glossary. About. Help. ataxiatelangiectasia by difficulty with coordinating movements (ataxia), which begins early in childhood
http://ghr.nlm.nih.gov/ghr/disease/ataxiatelangiectasia
A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Ataxia-telangiectasia
Ataxia-telangiectasia
What is ataxia-telangiectasia?
Ataxia-telangiectasia is a rare inherited disorder of childhood that affects the nervous system and other body systems. This disorder is characterized by difficulty with coordinating movements (ataxia), which begins early in childhood. As a result, children often have difficulty walking, a lack of balance, abnormal eye movements, and slurred speech. Small groups of blood vessels called telangiectases, which look like red "spider" veins, are also characteristic of the condition. Children with ataxia-telangiectasia often have multiple lung infections, and are at an increased risk of developing cancer (particularly leukemia and lymphoma). They are also very sensitive to the effects of radiation exposure, including x-rays. People with ataxia-telangiectasia usually live into late childhood or early adulthood.
How common is ataxia-telangiectasia?

6. Ataxia Telangiectasia
ataxia Telangiectasia / genetics. GeneReviews ataxiatelangiectasia.Notes for brief registration. ataxia Telangiectasia / genetics;.
http://omni.ac.uk/browse/mesh/C0004135L0004135.html
low graphics
Ataxia Telangiectasia
Ataxia Telangiectasia Ataxia Telangiectasia / genetics broader: Genetic Diseases, Inborn Immunologic Deficiency Syndromes other: Achondroplasia Adrenal Hyperplasia, Congenital Agammaglobulinemia Chromosome Disorders ... Tuberous Sclerosis
Ataxia Telangiectasia
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. Patient Education Handout [Publication Type] Ataxia Telangiectasia
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.

7. Genetic Conditions / Rare Conditions Information Site
Genetic and Rare Conditions Site Medical genetics, University of ataxia (Friedreichataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor
http://www.kumc.edu/gec/support/
Genetic and Rare Conditions Site
Medical Genetics, University of Kansas Medical Center

Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z
Revised January 22, 2004

8. The Center For Acadiana Genetics - Louisiana State University
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/

9. Friedreich Ataxia
Disease characteristics. Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually ED. Molecular genetics of Friedreich ataxia. Gene Symbol
http://www.geneclinics.org/profiles/friedreich/details.html
Friedreich Ataxia
[FRDA] Authors: Sanjay I Bidichandani, MBBS, PhD
Tetsuo Ashizawa, MD
About the Authors / Author History

Initial Posting:
18 December 1998 Last Revision
9 December 2002
Summary
Disease characteristics. Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before the age of 25 years typically associated with depressed tendon reflexes, dysarthria, Babinski responses, and loss of position and vibration senses. About 25% of patients have an "atypical" presentation with later onset (after age 25 years), retained tendon reflexes, or unusually slow progression of disease. About two thirds of patients have cardiomyopathy. Diabetes mellitus occurs in 10% of patients. Diagnosis/testing. The vast majority of patients with FRDA have identifiable mutations in the FRDA gene (chromosomal locus 9q13). The most common mutation intron 1 of the FRDA gene . About 4% of patients affected with FRDA are compound heterozygotes for the GAA expansion and an FRDA point mutation Molecular genetic testing for the GAA triplet-repeat expansion and FRDA point mutations is available on a clinical basis.

10. Center For Molecular And Human Genetics - Louisiana State
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

11. Heart -- Abstracts: Dutka Et Al. 81 (2): 141
the cardiac phenotype associated with Friedreich's ataxia, a recessively inherited disorder characterised by Keywords cardiomyopathy; Friedreich's ataxia; genetics ©. 1999 by Heart
http://heart.bmjjournals.com/cgi/content/abstract/81/2/141

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Genetics
Heart 141-147 ( February )
Marked variation in the cardiomyopathy associated with Friedreich's ataxia
D P Dutka, a J E Donnelly, a P Nihoyannopoulos, a C M Oakley, a D J Nunez b a National Heart and Lung Institute, Imperial College of Science, Technology and Medicine, Hammersmith Campus, Du Cane Road, London W12 0NN, UK, b Division of Medicine, National Heart and Lung Institute
Correspondence to: Dr Dutka. email: Accepted for publication 17 July 1998
Objective To document the cardiac phenotype associated with Friedreich's ataxia, a recessively inherited disorder characterised by spinocerebellar degeneration.

12. National Ataxia Foundation
This threeday conference is a comprehensive look at ataxia through experts inthe field of ataxia research, genetics, physical therapy, living with ataxia
http://www.ataxia.org/home.aspx
NAF Homepage: What is the National Ataxia Foundation (NAF)? How can you help in NAF’s efforts? What is Ataxia? How do I get more information? The National Ataxia Foundation's web site is for information and educational purposes only. While great care is taken to ensure the accuracy of information, no guarantee of accuracy can be given. Links contained on this web site are provided for convenience only and the information contained in these links are neither directly nor indirectly endorsed by the National Ataxia Foundation. Readers should seek their own medical advice by a qualified physician in the treatment and care of their condition. to top What is the National Ataxia Foundation (NAF)? to top Whom does NAF serve? An estimated 150,000 Americans are affected by hereditary or sporadic ataxia. Ataxia can strike anyone at any time regardless of age, gender, or race. Ataxia is a group of progressive neurological diseases which affects coordination and speech. NAF membership includes the following:
  • Persons with hereditary or sporadic ataxia, their families, and friends.

13. ADC -- McGovern Et Al. 83 (1): 74
Keywords Friedreich's ataxia; genetics; atypical. Case report normal health although his two brothershad Friedreich's ataxia (FA). At her first visit, growth and generalphysical
http://www.fetalneonatal.com/cgi/content/full/archdischild;83/1/74

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Genetics
Arch Dis Child 74-75 ( July )
Early onset of Friedreich's ataxia in a compound heterozygote
Mary Claire McGovern a , Moira Stewart b , Patrick J Morrison d , David Webb e , Stanley Hawkins c a Craigavon Area Hospital, 68 Lurgan Road, Portadown, Co. Armagh BT63 5QQ, Northern Ireland, UK, b Department of Child Health, Institute of Clinical Science, Queen's University of Belfast, Grovesnor Road, Belfast BT12 6BJ, Northern Ireland, UK, c School of Clinical Medicine, Queen's University of Belfast, d Department of Medical Genetics, Belfast City Hospital, Belfast BT9 7AB, Northern Ireland, UK, e Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast BT12 6BE, Northern Ireland, UK
Correspondence to: Dr McGovern Accepted 15 February 2000
Abstract Top
Abstract Case report Discussion References Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. We describe an unusual form of "pseudodominant"

14. 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
  • 15. Index By Chromosome
    Atlas of genetics and Cytogenetics in Oncology and Haematology. t(2;11)(p23;p15).Cancer prone diseases. ataxia telangiectasia. BeckwithWiedemann syndrome.
    http://www.infobiogen.fr/services/chromcancer/Indexbychrom/idx_11.html
    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Home Genes Leukemias Solid Tumours ... NA
    Chromosome 11
    Chromosome 11 : G-banding, diagram and R-banding
    Leukaemia
    +11 or trisomy 11 (solely) 11p15 rearrangements in treatment related leukemia 11q23 rearrangements in childhood acute lymphoblastic leukemia 11q23 rearrangements in leukaemia ... t(11;22)(q23;q13)
    Solid Tumors
    Soft tissue tumors: Desmoplastic small round cell tumor t(2;11)(p23;p15) t(11;16)(q13;p13) t(11;22)(p13;q12) ... t(2;11)(p23;p15)
    Cancer prone diseases
    Ataxia telangiectasia Beckwith-Wiedemann syndrome Multiple Endocrine Neoplasia type 1 (MEN1) WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome)
    External links
  • Chromosome 11 - HUGO Chromosomes
  • Chromosome 11 - GoldenPath - Santa Cruz
  • Chromosome 11 - Ensembl Project
  • Chromosome 11 - Map View - NCBI ...
  • Chromosome 11 - GDB (Genome Data Base)
  • Chromosome 11 - OMIM Gene map
  • Chromosome 11 - Genome Channel - ORNL
  • Chromosome 11 - LaunchPad HGMIS
  • Chromosome 11 - SpliceNest ...
  • Proteome analysis - Homo sapiens (EBI)
    Genes
    Annotated genes Symbol Location (Kb) Location (pter-qter) CARS ATM MLL SDHD ... PU.1
  • 16. Genetics & Cancer - Ataxia Telangiectasia (A-T)
    YMG Physicians. genetics. YMG Centers Services. Search the MerriamWebsterMedical Dictionary. About YMG. Search YMG. ataxia Telangiectasia (AT).
    http://ymghealthinfo.org/content.asp?pageid=P07124

    17. GeneReviews: Diseases And Overviews
    ataxia with Oculomotor Apraxia. ataxiaTelangiectasia. Atelosteogenesis Type 2. BiotinidaseDeficiency. Branchiootorenal Syndrome. Breast Cancer genetics Overview.
    http://www.geneclinics.org/profiles/all.html
    University of Washington, Seattle
    About Search Options
    GeneReviews
    Laboratory
    Directory GeneReviews
    Index of Review Titles
    The following is a list of titles in the GeneReviews database. If your search term is not listed below, try searching for your term. A B C D ...
    GeneTests

    Children's Health System and University of Washington, Seattle
    Funding Support

    National Institutes of Health
    Health Resources and Services Administration
    US Department of Energy Technical Support
    University of Washington
    Seattle, Washington Administrative Support University of Washington School of Medicine Children's Hospital Regional Medical Center Seattle, Washington

    18. Genetics Research: Friedreich Ataxia
    Friedreich ataxia. Principal Investigators Pragna Patel, Ph.D. Arch. Neurol. in press.Bidichandani, SI, Patel, PI, and Ashizawa, T. (1998) Friedreich ataxia.
    http://www.bcm.tmc.edu/neurol/research/genes/genes5.html
    Friedreich Ataxia
    Principal Investigators:
    Pragna Patel, Ph.D.
    • Autosomal recessive disorder
    • Frequency: 1-2 in 50,000
    • Symptoms include: progressive gait and limb ataxia, absent tendon reflexes in the legs, loss of position sense, hypertrophic cardiomyopathy
    • Gene located on long arm of chromosome 9
    • Our recent discoveries include:
      • A GAA triplet repeat expansion in intron 1 of a gene (X25) encoding the protein, frataxin, has been found as the disease-causing mutation in the majority of FRDA patients
      • A minority of patients have a point mutation in X25 on one chromosome
      • The GAA triplet repeat expansion interferes with X25 gene transcription
      • The GAA triplet repeat expansion is unstable and can undergo dramatic length variation in somatic cells

    • DNA-based diagnosis is possible by PCR or Southern analysis
    Selected References:
  • Bidichandani, S.I., Purandare, S.M., Taylor E.E., Gumin,G., Machkhas,H., Harati,Y., Gibbs, R.A., Ashizawa,T., Patel, P.I. (1999) Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts, and enhanced mutagenesis in the flanking sequence. Hum. Mol. Genet. in press.
  • Bidichandani, S.I., Garcia, C.A., Patel, P.I., Dimachkie, M.M. (1999) Very late-onset Friedreich ataxia (VLOFA) despite large GAA triplet repeat expansions. Arch. Neurol. in press.
  • 19. Genetics Research: Spinocerebellar Ataxia
    Spinocerebellar ataxia. Autosomal dominant with anticipation; Symptoms includeataxia, spasticity, ocular abnormalities, peripheral neuropathy;
    http://www.bcm.tmc.edu/neurol/research/genes/genes12.html
    Spinocerebellar Ataxia
    Principal Investigator:
    Huda Zoghbi, M.D.
    • Autosomal dominant with anticipation
    • Symptoms include ataxia, spasticity, ocular abnormalities, peripheral neuropathy
    • Our recent discoveries include:
      • Mutation is CAG repeat expansion in ataxin-1
      • Mice lacking ataxin-1 have learning and memory deficits
      • A mouse model for SCA1 has been developed
      • Proteins interacting with mutant ataxin-1 have been isolated

    • DNA-based diagnosis available
    Selected References:
  • Koshy, B., Matilla, T., Burright, E.N., Merry, D.E., Fischbeck, K.H., Orr, H.T., and Zoghbi, H.Y. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Hum. Mol. Gen., 5:1311-1318, 1996.
  • Zoghbi, H.Y. The expanding world of ataxins. Nat. Genet., 14:237-238, 1996.
  • Burright, E.N., Clark, H.B., Servadio, A., Matilla, T., Feddersen, R.M., Yunis, W.S., Duvick, L.A., Zoghbi, H.Y., and Orr, H.T. SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell, 82:937-948, 1995.
  • Servadio, A., McCall, A., Zoghbi, H.Y., and Eicher, E.M. Mapping of the
  • 20. CCHS Clinical Digital Library
    SCA6 Access document. Autosomal Recessive ataxias Access document Friedreich sataxia Access document genetics Access document. ataxia Telangiectasia Access
    http://cchs-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:

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