Geometry.Net - Basic_A: Ataxia Genetics

Friedreich's Ataxia (FA) | MDA
Ironing Out Friedreich's ataxia 10/97. top Simply Stated genetics Myths 12/01; SimplyStated - Clinical Trials 10/01; Simply Stated - Neuromuscular Terminology 8
http://www.mdausa.org/disease/fa.html

Extractions: It's your source for information and news about FA and will be updated regularly. Childhood to adolescence. Impairment of limb coordination, with weakness and muscle wasting. Severity and progression of disorder vary. Often associated with diabetes/heart disease. Autosomal recessive. Do you need to find MDA in your city? Enter your Zip code here for where to turn for clinics and medical services; support groups; summer camp; local events and volunteer and fund-raising opportunities close to home.
NAF Publications
ataxia. Consult your physician first. Friedreich's ataxia Describessymptoms, diagnosis, genetics, and hints on coping. Gene Testing
http://www.ataxia.org/publ.html

Extractions: There are several publications edited by NAF. They include Fact Sheets and Brochures , a quarterly newsletter named Generations Books and Booklets and Video Tapes . Many of the publications may be ordered using this order form , which may be completed and FAXed or mailed to the NAF. Instructions are included on the form. Please contact NAF for more information regarding these items or to order in large quantities. Books and Booklets
Ataxia: Recessive
Chromosome 9q34.3 (Some families) genetics Locus near ataxia withOculomotor apraxia (AOA); Onset Infantile; Neurologic Features
http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html
Center For Genetics - Genetic Disorders
Center for genetics Friedreich's ataxia is an inherited neurodegenerativedisorder with progressive loss of muscle strength and control.
http://www.idph.state.ia.us/fch/fam_serv/genetics/gen-disorders.html
General Timeline
Nature genetics Autosomal dominant cerebellar ataxia (SCA6) associated with smallpolyglutamine expansions in the alpha1A-voltage-dependent calcium channel.
http://www.backmeup.net.au/usr/scars/research/research02.htm

Extractions: Links General Ataxia Research timeline "Human Molecular Genetics" - Increased trinucleotide repeat instability with advanced maternal age "Nature" - Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures "Human Molecular Genetics" - Transgenic Models of Huntington's Disease "Archives of Neurology" - Analysis of Fast Single-Joint and Multijoint Movements in Cerebellar Cortical Atrophy: Failure of L-Hydroxytryptophan to Improve Cerebellar Ataxia "Nature Genetics" - Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion "Archives of Neurology" - Spinocerebellar Ataxia Type 2: Genotype and Phenotype in German Kindreds "Nando Times" - In major advance, scientists discover cause of brain cell death
Beyond The Crystal Ball -- Public Health Genetics
Spinocerebellar ataxia Huntington Disease Dentatorubral PallidoluysianAtrophy (DRPLA) Friedreich ataxia. Adult genetics An Overview.
http://www.dhs.vic.gov.au/phd/genetics/crystalball.htm

Extractions: The epidemiology of some genetic conditions in Victoria 2002 page content: foreword contact information contents download pdf A paediatrician once said to the parents of a tiny baby with a congenital condition: 'we don't have a crystal ball to tell you about the future of your child'. This concept of a fortune teller's crystal ball highlights the need to predict distant events for the child, the parents and the support services that may be necessary for the child to enjoy a high quality of life. For the parents of this newly diagnosed baby, such knowledge would enable them to make informed choices about the future. Unfortunately, there is no crystal ball. Current scientific advances, such as the human genome project and associated technology, are moving rapidly and many diagnostic, prognostic and possibly curative technologies are imminent. However, even with these advances, the future of any one individual is still hard to predict, partly because the conditions are still very complex and may be expressed in many ways. The major steps in an evidence-based public health approach are to define the extent of the problem, identify causes, develop tests and interventions, implement effective interventions and evaluate them. This descriptive epidemiology report is the first stage of enhancing surveillance of the incidence and prevalence of genetic disorders, and the impact of Victorian services. It is the initial stage of a coordinated public health surveillance system that describes the level of testing for, and the number of people with or carriers of, some common genetic conditions in Victoria. Service providers will find this information useful in planning services, for health advocacy, monitoring and evaluating programs, and for education and policy development. It will also provide further information about conditions for service users.
Searle Scholar Profile Harry T. Orr (1981)
return to top . Molecular Nneurogenetics, Spinocerebellar ataxia,Major Histocompatibility Complex genetics. Dr. Orr's research
http://searle.bio.jhu.edu/people/orr.html
BIO-MEDICAL SCIENCES Genetics
BIOMEDICAL SCIENCES genetics. Predominance of Mutations with Extensive Deletionsin ataxia Telangiectasia Lymphoblastoid Cells Treated with Ionizing Radiation.
http://www.nirs.go.jp/report/nene/H8/nene-08.htm
BIO-MEDICAL SCIENCES Genetics
Toshimichi Ikemura, and Kazuei Mita (National Institute of genetics,Tokai Keywords ataxia telangiectasia, ATM, NPAT, chromosome 11q2223
http://www.nirs.go.jp/report/nene/H7/07.htm
Untitled
1989. genetics and Friedreich ataxia. Louisiana Chapter Nationalataxia Foundation meeting, Lafayette, September, 1989. Mapping
http://www.medschool.lsuhsc.edu/genetics/Faculty/KeatsPRES.htm

Extractions: Bronya J. B. Keats Invited Presentations "Maximum likelihood estimation of the human linkage map." LSU Health Sciences Center, New Orleans, October, 1983. "Genetic studies in hereditary Ataxias." LSU Health Sciences Center, New Orleans, January, 1984. "Effects of random drift and selection on allele frequencies." Tulane Medical Center, New Orleans, May,1984. "Hereditary Ataxia in Acadiana." German-Acadian Coast Historical and Genealogical Society, Reserve, Louisiana, May, 1984. "Hereditary Ataxia and the Cajun connection." Governor's Conference for Disabled Persons, Baton Rouge, October, 1984. "Pedigree discriminant analysis applied to two French-Canadian Tay Sachs families." LSU Health Sciences Center, New Orleans, November, 1984. "Friedreich Ataxia: The Cajun Connection." National Ataxia Foundation Annual Membership meeting, New Orleans, February, 1985. "The status of the human gene map." John Curtin School of Medical Research, Canberra, January, 1986. "Friedreich Ataxia in the Acadian population of south-western Louisiana." Southern Genetics Group, Navarre Beach, Florida, July, 1986.
Swisstox.net - An Introduction To Genetics And Genetic Testing: When Your Baby H
An Introduction to genetics and Genetic Testing When Your Baby Has a 1 and NF2)- Sturge-Weber syndrome - Tuberous sclerosis (TS) - ataxia-telangiectasia (AT
http://www.swisstox.net/en/news_e.php?st_lang_key=en&st_news_id=826
Save On Health Books Concerning Ataxia
ataxiatelangiectasia genetics, Neuropathology, And Immunology Of A DegenerativeDisease Of Childhood Proceedings Of A Conference Held In Solvang
http://www.healthlinkusa.com/bookpage/30_1.html
Selected Clinical Links Of Medical Genetics Of The University Of Geneva Medical
Translate this page College of Medical genetics. Patients. Quelques sites et associations de patientsanglophones. Association Charcot-Marie-Tooth. Angelman Syndrome Foundation. ataxia-
http://medgen.unige.ch/links/clinical.html

Extractions: Liens locaux FMH International Federation of Human Genetics Societies The European Society of Human Genetics The British Society of Human Genetics ... The American Academy of Pediatrics Bioethics section of the Council of Europe Directorate of Legal Affairs Bioethics International Calendar European Database on Bioethics, supported by the European Commission and coordinated by France, Germany, Netherlands and Sweden Genetics and Ethics ... Policy Statements of the American College of Medical Genetics Quelques sites et associations de patients anglophones Association Charcot-Marie-Tooth Angelman Syndrome Foundation Ataxia-Telangiectasia Children's project Cri-du-Chat Syndrome Support Group ... Williams syndrome Association Quelques sites et associations de patients francophones Association Belge de Lutte contre la Mucoviscidose Association Charcot-Marie-Tooth-France Association contre les Maladies Mitochondriales Association du Cri du Chat Suisse ... Trisomie 21 Liens cliniques pour les professionnels BioMedNet CEPH Cystic Fibrosis Mutation Data Base Gene Clinics ... DGM Contacts
WE MOVE (pediatric) - Dyskinesias (Paroxysmal) - Genetics
PAROXYSMAL DYSKINESIAS genetics PKD, PNKD, PED, PHD, EPISODIC ataxia.16p11.2q12.1 (ICCA), 2q33-35 (anion exchanger SLC2C), 16p12-q12
http://www.wemove.org/kidsmove/pdys_gen.html

Extractions: go to: Top of Section Genetics The paroxysmal dyskinesias , including paroxysmal kinesigenic dyskinesia (PKD), non-kinesigenic dyskinesia (PNKD), exertion-induced dyskinesia (PED), and hypnogenic dyskinesia (PHD), are usually idiopathic (primary) conditions that occur for unknown reasons. Idiopathic PKD, PNKD, PED, or PHD may be familial, with autosomal dominant inheritance, or appear to occur randomly for unknown reasons (sporadically). The paroxysmal dyskinesias, however, may occur secondary to other underlying disorders, conditions, or other factors. Genetic studies have mapped some but not all families of PKD to chromosome 16 (16p11.2-q11.2). This region overlaps with that of another autosomal dominant disorder known as familial infantile convulsions and paroxysmal choreoathetosis (ICCA syndrome). The disorder is characterized by seizures during infancy and transient, non-kinesigenic episodes of involuntary movement. Some researchers suggest that these disorders may result from different mutations of the same gene or mutations of different genes within this chromosomal region. In other patients with idiopathic PKD, there is no apparent family history of the disease. Researchers suggest that such cases may be due to spontaneous (sporadic) genetic mutations that occurred for unknown reasons. In addition, some apparently sporadic cases may actually have been inherited; according to some investigators, this may be suggested by the fact that there are no apparent differences between familial and sporadic PKD regarding the frequency and duration of episodes, nature of the involuntary movement patterns (phenomenology), or response to treatment. Although many reports indicate that most cases of PKD are familial, other investigators suggest that sporadic (and secondary or symptomatic) disease may be more common than previously recognized.
UCI Health Sciences Homepage: Microbiology & Molecular Genetics: Faculty And Res
For example, jolting results from a single amino acid change in a sodium channelexpressed in the cerebellum, causing ataxia and involuntary movements.
http://www.ucihs.uci.edu/microbio/facultyResearch/faculty/goldin.html
A Hereditary Ataxia Caused By Huntington's-Type "Genetic Stutter"
Orr, HT, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellarataxia type 1. Nature genetics, Vol. 4, pp. 2216, July, 1993.
http://accessible.ninds.nih.gov/news_and_events/pressrelease_sca1_063093.htm?typ
Congressman William Tauzin - LA03
and Education requesting appropriations for the Center for Acadiana genetics andHereditary Keith is afflicted with Friedreich's ataxia which occurs in the
http://www.house.gov/tauzin/houseapp021804.htm
SpringerLink: Human Genetics - Abstract Volume 97 Issue 5 (1996) Pp 671-676
Human genetics. Autosomal dominant cerebellar ataxia type I in Martinique (FrenchWest Indies) genetic analysis of three unrelated SCA2 families.
http://link.springer.de/link/service/journals/00439/bibs/6097005/60970671.htm

Extractions: ISSN: 1432-1203 (electronic version) Table of Contents Abstract Volume 97 Issue 5 (1996) pp 671-676 Received: 13 June 1995 / Revised: 8 September 1995 Abstract Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative disorders that are clinically and genetically heterogeneous. We report here a genetic linkage study, with five chromosome 12q markers, of three Martinican families with ADCA type I, for which the spinocerebellar ataxia 1 (SCA1) locus was excluded. Linkage to the SCA2 locus was demonstrated with a maximal lod score of 6.64 at = 0.00 with marker D12S354. Recombinational events observed by haplotype reconstruction demonstrated that the SCA2 locus is located in an approximately 7-cM interval flanked by D12S105 and D12S79. Using the z max Article in PDF-Format Last change: February 23, 1997
NeuroCAST - Genetics And Diagnosis Of Mitochondrial Disorders
population genetics better describes mitochondrial inheritance than mendelian genetics. withKSS also have atypical pigmentary retinopathy, ataxia, and heart
http://www.neurocast.com/site/content/sessions_02_2002.asp

Extractions: Mitochondria are the intracellular organelles that supply most of a cell's energy needs by producing adenosine triphosphate (ATP) through oxidative phosphorylation. More recently, mitochondria have also been found to play a central role in programmed cell death, or apoptosis. In addition to these well-known tasks, mitochondria are also responsible for a variety of other metabolic functions specific to the almost 250 different cell types in the human body. Mitochondria are unique organelles in that they contain their own DNA (mtDNA), which is distinct from the DNA in the cell nucleus (nDNA). Thus, proper mitochondrial function depends on the coordinated expression of both the nuclear and mitochondrial genomes and therefore, mitochondrial dysfunction can arise from mutations in either genome (Figure 1). This article is a brief review of mitochondrial genetics, disorders, and their diagnosis for neurologists, geneticists, genetic counselors, and other healthcare professionals involved in the care of people with complex neurological diseases that may be due to mitochondrial dysfunction. Figure 1.
HUM-MOLGEN Archive: NEWS: In Bioscience And Medicine
postings by chronological order) 1 Human and Mouse genetics net sources 2 National ataxia Foundation now ONLINE
http://www.hum-molgen.de/mail-archive/1996-Feb/msg00000.html

Extractions: http://www.informatik.uni-rostock.de/HUM-MOLGEN/NewsGen/ http://www.informatik.uni-rostock.de/HUM-MOLGEN/ http://www.ccc.nottingham.ac.uk/~mbzsrs/HMG.HTML http://www.informatik.uni-rostock.de/HUM-MOLGEN/documents/books/0005.html ... http://www.informatik.uni-rostock.de/HMB-NewsGen/vw3news?postF For other announcements please take a look at http://www.informatik.uni-rostock.de/HUM-MOLGEN/hum/submit.html home genetic news ... sitemap Mail converted by MHonArc

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