1. Friedreich Ataxia - Genetics Home Reference Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia http://ghr.nlm.nih.gov/condition=friedreichataxia

About Site Map Contact Us Search A service of the Home Conditions Genes Chromosomes ... Resources Friedreich ataxia Related Gene(s) References Quick links to this topic MedlinePlus Health information Genetic and Rare Diseases Information Center Information about genetic conditions and rare diseases Additional NIH Resources National Institutes of Health Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature Online Books Medical and science texts OMIM Genetic disorder catalog Genetic Conditions Friedreich ataxia On this page: Description Genetic changes Inheritance Treatment ... Glossary definitions Reviewed May 2010 What is Friedreich ataxia? Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder around puberty. Poor balance when walking and slurred speech are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear.

2. What Does Sca Stand For? Sca Meaning And Definition. Spinocerebellar Ataxia Genetics Sprayed Concrete Association British (EAIO) Stabilization Control Amplifier (ACAE) Stamp Collectors' Association British (BI) http://www.yourdictionary.com/abbreviation/sca

3. WE MOVE - Genetics Of Ataxia Many forms of ataxia are due to inheritance of a gene that carries a mutation. A gene is the cell's instructions for making a specific protein. http://www.wemove.org/ataxia/ata_gen.html

4. Friedreich Ataxia - Genetic Information ; Genetic changes; Inheritance; Treatment; Additional information; Other names; Glossary......Friedreich ataxia Genetics Home Reference . Friedreich ataxia. On this page http://health.kosmix.com/topic/Friedreich_ataxia/Genetic-Information

5. FreeMD® Friedreich's Ataxia Genetics To better understand Friedreich's ataxia, it helps to understand a little about genetics. DNA DNA is the genetic material that largely determines our health. It is present in http://www.freemd.com/friedreichs-ataxia/genetics.htm

Friedreich's Ataxia Definition Symptoms Evaluation Treatment ... Underlying Cause Genetics Trusted Sites Friedreich's Ataxia Genetics To better understand Friedreich's ataxia , it helps to understand a little about genetics. DNA DNA is the genetic material that largely determines our health. It is present in every cell in the body. Chromosomes DNA is stored in string-like structures, known as chromosomes, inside the nucleus of cells. Each human has 23 pairs of chromosomes, for a total of 46 chromosomes. The majority of them are identified by the numbers, 1 through 22. The first 22 pairs of chromosomes are called autosomes: they do not determine our gender. Sex Chromosomes The letters X and Y represents the last pair of chromosomes. The last two chromosomes are called sex chromosomes, because they determine our gender. Females have two X chromosomes in every cell, while males have one X chromosome and one Y chromosome. The X and Y chromosomes contain portions that do not match. Genes Chromosomes contain thousands of genes. Genes act as codes, or templates, that determine the structure of the body's essential building blocks: enzymes, proteins, hormones, etc. Mutations An abnormality in any one chromosome, or a single gene, can result in disease. Tiny abnormalities in a single gene (or collection of genes) can cause an illness, or increase our risk for a certain disease. These abnormalities are referred to as mutations.

6. Spinocerebellar Ataxia Type 8 In Scotland: Genetic And Clinical Features In Seve ataxia; genetics; ACE, Addenbrooke’s cognitive examination; DSMIV, Diagnostic and Statistical Manual of Mental Diseases, 4 th edition; HADS, hospital anxiety and depression scale http://jnnp.bmj.com/content/75/3/459.abstract

var callbackToken='4278E6E83D23604'; Search the BMJ BMJ BMJ Journals BMJ Careers BMJ Learning ... BMJ Group Search this site Advanced search An international peer-reviewed journal for health professionals and researchers in all areas of neurology and neurosurgery Online First Current issue Archive About the journal ... Volume 75, Issue 3 Article J Neurol Neurosurg Psychiatry doi:10.1136/jnnp.2003.018895 Paper Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports A Zeman J Stone M Porteous E Burns ... J Warner Department of Clinical Neurosciences, University of Edinburgh, Western General Hospital, Edinburgh, UK Department of Clinical Genetics, University of Edinburgh azskull.dcn.ed.ac.uk Received 16 May 2003 Accepted 11 July 2003 Revised 11 July 2003 Abstract Objectives: To establish whether the DNA expansion linked to spinocerebellar ataxia type 8 (SCA 8) is associated with ataxia in Scotland; to clarify the range of associated clinical phenotypes; and to compare the findings with previous reports. Methods: DNA was screened from 1190 anonymised controls, 137 subjects who had tested negative for Huntington’s disease, 176 with schizophrenia, and 173 with undiagnosed ataxia. Five unrelated ataxic patients with the SCA 8 expansion and a sixth identified subsequently had clinical and psychometric assessment; the clinical features were available in a seventh. A systematic search for other reports of SCA 8 was undertaken.

7. Data On Cerebellar Ataxia Genetics Published By Researchers At University Hospit Data on cerebellar ataxia genetics published by researchers at University Hospital.(Clinical report) find Biotech Week articles. div id= bedoc-text Scientists discuss in http://www.highbeam.com/doc/1G1-217656380.html

8. Major Advance In Understanding Friedreich's Ataxia Posted in Child Health News Disease/Infection News. Tags Friedreich's Ataxia, Genetics, Neurodegeneration http://www.news-medical.net/news/20090908/Major-advance-in-understanding-Friedre

9. Episodic Ataxia - Genetics Home Reference Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor http://ghr.nlm.nih.gov/condition=episodicataxia

About Site Map Contact Us Search A service of the Home Conditions Genes Chromosomes ... Resources Episodic ataxia Related Gene(s) References Quick links to this topic MedlinePlus Health information Additional NIH Resources National Institutes of Health Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature Online Books Medical and science texts OMIM Genetic disorder catalog Genetic Conditions Episodic ataxia On this page: Description Genetic changes Inheritance Treatment ... Glossary definitions Reviewed August 2008 What is episodic ataxia? Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as emotional stress, caffeine, alcohol, certain medications, physical activity, and illness. The frequency of attacks ranges from several per day to one or two per year. Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus.

10. "Behr Disease". (Report Of Two Cases In One Family). Kumawat DC, Goyal VV J Post Ataxia; genetics; Case Report; Human; Male; Optic Atrophy; diagnosis; genetics; Syndrome PDF Not available * Citation Manager Access Statistics http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1983;volume=29;issue=1

11. The Expanding Spectrum Of Ataxia - Search Results From HighBeam Research The Expanding Spectrum of Ataxia Genetics. find Neurology Alert articles. div id= bedoc-text The Expanding Spectrum of Ataxia GeneticsAbstracts CommentarySources http://www.highbeam.com/doc/1G1-206625025.html

12. Cerebello-trigeminal-dermal Dysplasia (Gómez-López-Hernández Syndrome): Descript Cerebellar Ataxia (genetics) Craniofacial Abnormalities (genetics) Female; Humans; Infant; Male; Rhombencephalon (abnormalities) http://www.curehunter.com/public/pubmed9295071.do

@import "../js/release/dojo/dojo/resources/dojo.css"; @import "../js/release/dojo/dijit/themes/soria/soria.css"; @import "../js/release/dojo/dojox/grid/resources/Grid.css"; @import "../js/release/dojo/dojox/grid/resources/soriaGrid.css"; /*@import "../js/release/dojo/dojox/layout/resources/FloatingPane.css"; @import "../js/release/dojo/dojox/layout/resources/ResizeHandle.css";*/ @import "../css/member.css"; HOME PRODUCTS SERVICES COMPANY ... FREE or Login Username: Password: Remember login Login Send password reminder... Abstract Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis ataxia , trigeminal anesthesia , scalp alopecia , cerebellar anomaly, midface hypoplasia, corneal opacities , apparently low-set ears, mental retardation , and short stature. It seems to be a sporadic condition but little is known about its cause and pathogenesis in the few cases reported so far. We present three new unrelated patients and magnetic resonance images of the central nervous system, and review the four cases reported previously. We think that this is not such a rare condition, and that it is underdiagnosed. Authors A C Santos C Graziadio J M Pina-Neto Journal American journal of medical genetics (Am J Med Genet) Vol. 72 Issue 1 Pg. 34-9 (Oct 3 1997) ISSN: 0148-7299 [Print] UNITED STATES

13. Friedreich's Ataxia Genetics THE MEDICAL NEWS. from NewsMedical.Net - Latest Medical News and Research from Around the World http://www.news-medical.net/health/Friedreichs-Ataxia-Genetics.aspx

14. Research Breakthrough Targets Genetic Diseases - Insciences Categories DNA Fragile X syndrome Friedreich's ataxia Genetics Huntington's disease. Genetics work could lead to advances in fertility for women 22 October 2010, 1131 http://insciences.org/article.php?article_id=1556

15. Cerebellar Ataxia :: Genetics BioInfoBank Library Cerebellar Ataxia genetics A fragile writer. FTXA (fragile X associated tremor ataxia syndrome) Familial agenesis of the cerebellar vermis. A http://lib.bioinfo.pl/meid:31854

16. Clinical Features; Evaluation; And Diagnosis Of Adolescent Idiopathic Scoliosis Friedreich ataxia; Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders; Glossary of common biostatistical and epidemiological terms http://www.uptodate.com/patients/content/topic.do?topicKey=~/LehWQYqigCM.X

17. Norfolk And Norwich University Hospitals NHS Foundation Trust Ataxia.Genetics. Research interests Genetics of ataxia and other movement disorders. Professional profile Dr Paul Worth trained at Cambridge and Oxford Universities. http://www.nnuh.nhs.uk/person.asp?ID=171&size=1

18. Lincoln's Ailment | MetaFilter Poor old Abe. He had an impressive medical history, as previously discussed. Will we ever figure out all his ailments? As an explanation for his especially clumsy gait, one http://www.metafilter.com/48675/Lincolns-ailment

skip to main content MetaFilter AskMeFi Projects ... New User Tags: lincoln depression ataxia genetics ... DNA Lincoln's ailment January 29, 2006 8:55 AM Subscribe Poor old Abe. He had an impressive medical history as previously discussed . Will we ever figure out all his ailments? As an explanation for "his especially clumsy gait," one theory claims that he had Marfan's Syndrome (with good company ). But now researchers are leaning more toward a new theory, that a gene-linked disorder called ataxia . But Lincoln also suffered from depression which could have been heriditary , for which he took "little blue pills" that gave him mercury poisoning, which could explain his insomnia, tremors and rage attacks, gait, and more . Of course, we also suspect that he was in the closet Lincoln's DNA will continue to be a growth industry, at least until somebody can get hold of a sample of the old guy and figure him out for sure. posted by beagle (34 comments total) 1 user marked this as a favorite Amazing, all this speculation, despite the fact that his cause of death is undisputed. posted by Faint of Butt at 9:07 AM on January 29, 2006

19. Spinocerebellar Ataxia - Wikipedia, The Free Encyclopedia Spinocerebellar ataxia (SCA) is a progressive, degenerative genetic disease with multiple types, each of which could be considered a disease in its own right. http://en.wikipedia.org/wiki/Spinocerebellar_ataxia

Spinocerebellar ataxia From Wikipedia, the free encyclopedia Jump to: navigation search Spinocerebellar ataxia Classification and external resources Cerebellum (in blue) of the human brain ICD G ICD OMIM ... MeSH Spinocerebellar ataxia SCA ) is a progressive degenerative genetic disease with multiple types, each of which could be considered a disease in its own right. Contents Classification Signs and symptoms Cause Treatment ... edit Classification The following is a list of some, not all, types of Spinocerebellar ataxia . The first ataxia gene was identified in 1993 for a dominantly inherited type. It was called “Spinocerebellar ataxia type 1" (SCA1). Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Usually, the "type" number of "SCA" refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations which have been found (not all listed). Many SCAs below fall under the category of polyglutamine diseases , which are caused when a disease-associated protein (i.e. ataxin-1, ataxin-3, etc.) contains a glutamine repeat beyond a certain threshold. In most dominant polyglutamine diseases, the glutamine repeat threshold is approximately 35, except for SCA3 which is beyond 50. Polyglutamine diseases are also known as "CAG Triplet Repeat Disorders" because CAG is the codon which codes for the amino acid glutamine. Many prefer to refer to these also as polyQ diseases since "Q" is the one-letter reference for glutamine. SCA Type Average Onset

20. Inheritance And Genetics Of Spinocerebellar Ataxia - WrongDiagnosis.com Spinocerebellar Ataxia Genetics Book Excerpts. Ataxia genetics - Ataxia. Spinocerebellar Ataxia Genetics Information. Genetics of Spinocerebellar Ataxia The basic defect in all types http://www.wrongdiagnosis.com/s/spinocerebellar_ataxia/inherit.htm

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