Geometry.Net - Basic_A: Ataxia Genetics


Home - Basic_A - Ataxia Genetics

e99.com Bookstore

Images

Newsgroups

21-40 of 90 Back | 1 | 2 | 3 | 4 | 5 | Next 20

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Ataxia Genetics: more books (26)

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
Genetic biomarkers of therapeutic radiation sensitivity [An article from: DNA Repair] by M. Fernet, J. Hall,
Hereditary Neuropathies and Spinocerebellar Atrophies
Abetalipoproteinemia: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Scott, MS, CGC Polzin, 2005
Chromosome Instability Syndromes: Ataxia Telangiectasia, Fanconi Anemia, Bloom Syndrome, Nijmegen Breakage Syndrome
Finding a drug target for Friedreich's Ataxia: An overview of FRDA, current research and a new finding by Nadine Chapman-Rothe, 2010-02-26
Azorean disease: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Paul Johnson, 2005
New Hereditary Ataxia-disorders in Finland (Acta Universitatis Tamperensis) by Maria Rantamaki, 2009-10-19
A new recessive lethal mutation in mice, (University of California publications in zoology) by Kenneth Benton De Ome, 1945
Ataxia-telangiectasia and Swiss-type agammaglobulinemia: Two genetic disorders of the immune mechanism in related Amish sibships by Victor A McKusick, 1966
ACCELERATED AGING: HUMAN PROGEROID SYNDROMES: An entry from Macmillan Reference USA's Encyclopedia of Aging by DAVID K. ORREN, 2002
Machado-Joseph disease (SuDoc HE 20.3520:M 18) by U.S. Dept of Health and Human Services, 2001

lists with details

Pathology Molecular Genetics Spinocerebellar Ataxia Type 2
INDICATIONS FOR TESTING The clinical features of spinocerebellar ataxia type2 (SCA2) include progressive gait ataxia with leg cramps, slow saccadic eye
http://www.allkids.org/Specialties/Pathology/Pages/Molecular_Genetics_Spinocereb

Extractions: The clinical features of spinocerebellar ataxia type 2 (SCA2) include progressive gait ataxia with leg cramps, slow saccadic eye movements and, in some patients, dystonia, chorea and dementia. Onset is usually in the fourth decade with longevity of typically 10 to 15 years, although earlier onset in juvenile patients is occasionally noted that has a more rapid course. This disorder is autosomal dominant and may be characterized by markedly increased severity in successive generations, a phenomenon known as genetic anticipation. SCA2 is caused by expansion of an unstable trinucleotide (CAG) repeat in the first exon of the SCA2 gene in the chromosomal region 12q24. The majority (~100%) of affected individuals have the CAG repeat expansion in the SCA2 gene that is readily detected. This repeat is polymorphic, with 14-31 repeats found in unaffected individuals, and from 36 to 64 repeats in affected individuals. Patients with alleles in the 32-35 are considered intermediate with an indeterminate course.
SOUTHEASTERN Regional Genetics Group (SERGG)
E), Kennedy s disease, Ychromosome analysis, SCA1, SCA2, SCA2, DRPLA, SCA6, SCA7,Friedreich s ataxia, Pseudoachondroplasia Research genetics of coronary
http://www.sergginc.org/registry/vi.htm
Re: Has The Gene Responsible For Frederick's Ataxia Been Located?
A et al (1996) The relationship between trinucleotide (GAA) repeat length and clinicalfeatures in Friedreich ataxia. American Journal of Human genetics 59 (3
http://www.madsci.org/posts/archives/aug97/867961666.Ge.r.html

Extractions: First, a little bit of background information: Ataxia is the term for progressive disorders involving muscle coordination and muscle action. Friedreich ataxia is one particular ataxia, and it is inherited in an autosomal recessive manner (both parents of an affected child are "silent" carriers of the trait). Friedreich ataxia has an incidence of 1/100,000 births, and the age of onset is usually before 10 years of age. Loss of muscle coordination occurs gradually over about 20 years, and ends with complete loss of ambulation. There are also cardiac and endocrine symptoms associated with this particular ataxia. No cure is available, and so the only thing doctors can do is treat the symptoms. Further information on other ataxias can be found here: Ataxia Classifications Now, to the original questions: Has the gene responsible been found? and Can people be screened for the gene?
Emory Genetics Laboratory, Emory University
9. Normal individuals have 734 copies of the GAA repeat, while individuals withFriedreich ataxia usually have (Please call Emory genetics Laboratory prior to
http://server2k.genetics.emory.edu/lab/user/index.pl?display=tests&test=40
Cerebellar Ataxia
Banfi et al. 1994. Identification and characterisation of the gene causing type1 spinocerebellar ataxia. Nature genetics 7 513520. Cancel et al. 1997.
http://leedsdna.info/tests/SCA.htm

Extractions: last update: Name OMIM No. Level 1 - PCR analysis for the CAG expansion mutations associated with spinocerebellar ataxias type 1, 2, 3, 6 and 7. As there is overlap between the phenotypes of the spinocerebellar ataxias the CMGS best pratice guidelines recommend testing for all the CAG repeat expansion mutations in patients in whom testing is requested. The adult onset autosomal dominant spinocerebellar ataxias are a clinically and genetically heterogeneous group of diseases. There are three clinical subgroups ADCA type I, ADCA type II and ADCA III. ADCA type I is a progressive cerebellar ataxia with additional but variable associated features of supranuclear ophthalmoplegia, optic atrophy, mild dementia, peripheral neuropathy and pyramidal dysfuction. ACDA type I is genetically heterogeneous and is due to mutations in the SCA1, SCA2 or SCA3 genes. A further gene SCA4 shows linkage with ACDA type I in one family but so far a gene has not been isolated. Families with ACDA type II have a mutation in the SCA7 gene. There is marked variation in age of onset and the disease has been described in infancy. Affected individuals have progressive ataxia with pigmentary macular dystrophy (which distinguishes it from the other SCAs).
Wellcome Trust Centre For Human Genetics - Template
Sequeiros J, Koenig M. Homozygosity mapping of Portuguese and Japanese forms of ataxiaoculomotorapraxia Clinical and molecular genetics of primary dystonias.
http://www.well.ox.ac.uk/monaco/andrea.shtml

Extractions: Back to Monaco Group home about research ... vacancies The genetics of movement disorders and ataxias Dr. Andrea H. Németh (andrea.nemeth@well.ox.ac.uk) The two main interests of the group are inherited dystonias and ataxias, but we also have an interest in other inherited neurogenetic conditions such as chorea-acanthocytosis (Rubio et al., 1997, Rampoldi et al., 2001 and see ...), Tourette syndrome and adrenoleukodystrophy. Dr. Németh sees out-patients with inherited neurogenetic conditions in a specialist clinic held once a month. 1) Ataxias a) Autosomal recessive cerebellar ataxias This is a genetically heterogeneous group of disorders which includes Friedreich ataxia, ataxia telangiectasia and vitamin E deficiency. Another condition in this group, which has only recently been investigated in more detail, is autosomal recessive cerebellar ataxia associated with a complex eye movement disorder, sometimes known as ataxia with oculomotor apraxia (AOA) or ataxia-telangiectasia like-disorder (ATLD). We have identified a large family with this condition and mapped the disease locus to chromosome 9q34 (Németh et al., 2000). Further work is now in progress to collect additional families and check for linkage to 9q34, or to 9p where a second AOA locus has recently been identified (do Ceu Moreira et al., 2001)
Genetics Cancer - Ataxia Telangiectasia (AT)
Types Gynecological Cancers / genetics Cancer - The genetics of Breast and Ova/ genetics Cancer - ataxia Telangiectasia (AT) ataxia Telangiectasia (AT).
http://www.readinghospital.org/content/content.asp?pageid=P07124
Ataxia: Recessive
Recessive Nosology Other names Childhood ataxia with difuse hypomyelination;Myelinosclerosis centralis diffusa. genetics ? Allelic
http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html
Terrier / Dog Genetics - Basics Of Coat Color And Ataxia
Terrier genetics. My hope is to have many genetic related articalsplaced here in the near future. Until then here are a couple that
http://www.briddlecreekjackrussellterriers.com/genetics/genetics.asp
Peninsula Molecular Genetics Laboratory, Exeter, UK
CLINICAL genetics. FRIEDREICH ataxia (ANALYSIS OF THE FRDA GENE). Friedreichataxia is the most common inherited ataxia with an incidence of 1 in 50,000.
http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/friedreich.htm

Extractions: FRIEDREICH ATAXIA (ANALYSIS OF THE FRDA GENE) Friedreich 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 expansion on one allele and a point mutation in the other. Analysis of the (GAA)n repeat within the FRDA gene by PCR/agarose gel electrophoresis and sizing of normal range alleles using an ABI PRISM 377 TM DNA sequencer. A triplet-primed PCR method is used to look for the presence of an expansion in order to avoid false negative results resulting from allelic dropout in patients heterozygous for an expansion mutation. Sample required: 2 x 7.5ml blood (2.5ml for children) in EDTA tubes Reporting time: 1- 8 weeks Cost: Analysis of the FRDA (GAA)n repeat
Peninsula Molecular Genetics Laboratory, Exeter, UK
CLINICAL genetics. SPINOCEREBELLAR ataxia (ANALYSIS OF THE SCA1, 2,3, 6 and 7 GENES). The autosomal dominant cerebellar ataxias (ADCAs
http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/sca.htm

Extractions: SPINOCEREBELLAR ATAXIA (ANALYSIS OF THE and GENES) The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders with an estimated prevalence of 1 in 100,000. A trinucleotide repeat expansion (CAG)n has been found within the coding region at 5 gene loci (SCA1, 2, 3, 6 and 7). Analysis of the (CAG)n repeat within the and genes using an ABI PRISM 377 TM DNA sequencer Sample required: 2 x 7.5ml blood in EDTA tubes Reporting time: 1- 8 weeks Cost: Analysis of one SCA (CAG)n repeat Analysis of the SCA1, 2, 3, 6 and 7 (CAG)n repeats
N.C.M.G. Ireland - Friedreich Ataxia Service Description.
Please contact the Molecular genetics laboratory if it is appropriate to performother tests, for example into spinocerebellar ataxia ( SCA ) genes or
http://www.genetics.ie/services/frda/

Extractions: @import "/css2v2.css"; Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland Skip Navigation Friedreich Ataxia ( FRDA ) is the most common hereditary ataxia with an estimated prevalence of 1 in 50,000. The carrier frequency for FRDA in the general population is estimated to be 1 in 120. FRDA is characterised by progressive ataxia, areflexia of the legs, pyramidal weakness and impaired sense of vibration. Cardiomyopathy and diabetes are also seen with variable penetrance. FRDA is an autosomal recessive disorder and the majority of patients (96%) have a homozygous expansion mutation of a (GAA)n repeat within intron 1 of the frataxin gene. The normal range is 9-33 repeats and the size range associated with disease is 66 to 1,700 repeats, but the majority of pathogenic alleles contain 600-1,200 repeats. A number of point mutations have been reported in patients who are heterozygous for the expansion. To date, no FRDA patients without an expansion have been reported.
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.
Laboratorio Dr. Mauricio Grosman
MOLECULAR genetics DEPARTMENT. Consultant Dr. Belén Elgoyhen CONICET researchscientist, Prof. UBA www.neuromuscular.com.ar. Spinocerebellar ataxia I (SCA I)
http://www.lbm-mg.com/genetics.htm

Extractions: Spinocerebellar Ataxia I (SCA I) Spinocerebellar Ataxia II (SCA II) Spinocerebellar Ataxia III (SCA III) (Machado-Joseph disease) Spinocerebellar Ataxia VI (SCA VI) Spinocerebellar Ataxia VII (SCA VII) Friedreich's Ataxia Spinal Muscular Atrophy (Types I, II and III) Dentatorubral-Pallidoluysian Atrophy (DRPLA) Myutonic Dystrophy (Steintert's diesease) Facioscapulohumeral Muscular Dystrophy Duchenne-Becker Muscular Dystrophy a) PCR (blood) b) Linkage: carrier detection Gaucher's disease Kennedy's disease (Spinobulbar Muscular Atrophy) Huntington disease Tay Sachs disease Prenatal chorionic villosity tests Phenylketonuria (4 mutations) Tomaculu Neuropathy (liability to pressure palsies) Neurofibromatosis Fragile X Syndrome OTHER SERVICES DNA bank
Entrez PubMed
distinguishes it from other movement disorders. MeSH Terms Aged; ataxia/genetics;Brain/pathology; Brain Mapping; Cerebellum/pathology*;
http://www.facultyof1000.com/pubmed/12638084

Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
Applied Genetics News: ATM Linked To Ataxia-Telangiectasia
Print friendly Tell a friend Find subscription deals ATM Linked toAtaxiaTelangiectasia Applied genetics News, Dec, 2000. Michael
http://articles.findarticles.com/p/articles/mi_m0DED/is_5_21/ai_68655484

Extractions: Michael B. Kastan, chairman of the department of hematology oncology at St. Jude Research Hospital (332 N. Lauderdale, Memphis TN 38105-2729; Tel: 901/495-3300) and Da-Qing Yang, a postdoctoral fellow, discovered a potentially important new role of the ATM protein that may shed light on some of the myriad physiologic problems found in patients with the genetic disease Ataxia- Telangiectasia (A-T). These findings are published in the December issue of the journal Nature Cell Biology. A-T is a rare and tragic, inherited disorder characterized by a high incidence of cancer and hypersensitivity to radiation and some chemotherapy treatments. In addition, this disorder affects many different organ systems within the body, including a progressive neurologic degeneration that makes the patients wheelchair-bound as children. ATM is the gene mutated in the disorder A-T. The researchers discovered that ATM protein participates in insulin-signaling in cells. ATM was previously known to be involved in repairing DNA damaged by radiation. The new function of ATM may help researchers explain other problems that these patients have, including metabolic problems.
Kimball Genetics - FXTAS DNA Test
Indications for Testing , Tremor and/or ataxia in males aged 50 years. Pleasecall Kimball genetics for more information, FXTAS DNA Testing Services,
http://www.kimballgenetics.com/tests-fxtas.html

Extractions: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a neurological disorder that can affect older men who carry a fragile X premutation. FXTAS is characterized by progressive tremor, gait ataxia, and cognitive decline. The carrier frequency of men with a fragile X premutation is estimated to be 1 in 760 in the general population. One study suggests that up to 30% of male carriers with a fragile X premutation may develop FXTAS. FXTAS is distinct from fragile X syndrome, the most common cause of inherited mental retardation. However, both conditions arise as a consequence of a CGG trinucleotide repeat expansion in the FMR1 gene. The number of CGG repeats varies from 6 to approximately 40 in normal alleles. Premutations have between approximately 55 and 200 CGG repeats. Full mutations have more than 200 repeats and are usually associated with abnormal FMR1 methylation, resulting in fragile X syndrome. Both males and females with a premutation are at risk for fragile X syndrome in future generations. Males with a premutation do not typically display characteristics of fragile X syndrome and usually have a normal IQ. Those who eventually develop FXTAS are generally over 50 years of age. They often present with tremor and may have difficulty with handwriting or using eating utensils. They may exhibit unsteadiness with walking and experience frequent falling. As these symptoms gradually progress, cognitive deficits may appear including decreased memory retrieval, distractibility, and dementia.
UM Human Genetics - Burmeister
Burmeister M Mutations in a novel CRALTRIO domain encoding gene cause human Caymanataxia and ataxia/dystonia in the jittery mouse. Nature genetics 35 264
http://www.med.umich.edu/hg/RESEARCH/FACULTY/Burmeister/Burmeister.htm
Entrez PubMed
Calcium Channels/genetics*; Cerebellar ataxia/genetics*; Chromosomes,Human, Pair 19*; Exons; Female; Human; Introns; Male; Middle Aged;
http://www.biomedcentral.com/pubmed/9302278

Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

21-40 of 90 Back | 1 | 2 | 3 | 4 | 5 | Next 20