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Topic: Ataxia telangiectasia

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ataxia telangiectasia

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	Spinocerebellar ataxia - Wikipedia, the free encyclopedia
		Spinocerebellar ataxia is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
		The hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus.
		Disorder Subdivisions: Friedreich's ataxia, Marie's ataxia, Ataxia telangiectasia, Vasomotor ataxia, Vestibulocerebellar, Ataxiadynamia, Ataxiophemia, Olivopontocerebellar atrophy, and Charcot-Marie-Tooth disease.
	en.wikipedia.org /wiki/Spinocerebellar_ataxia (889 words)

	Ataxia Telangiectasia - St. Joseph Mercy, Ann Arbor Michigan
		Ataxia Telangiectasia (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early childhood.
		Ataxia is often accompanied by difficulties speaking (dysarthria); drooling; and an impaired ability to coordinate certain eye movements (oculomotor apraxia), including the occurrence of involuntary, rapid, rhythmic motions (oscillations) of the eyes while attempting to focus upon certain objects (fixation nystagmus).
		In addition, telangiectasias may develop by mid-childhood, often appearing on sun-exposed areas of the skin, such as the bridge of the nose, the ears, and certain regions of the extremities, as well as the mucous membranes of the eyes (conjunctiva).
	www.sjmercyhealth.org /12608.cfm (582 words)

	National Cancer Institute - Ataxia Telangiectasia: Fact Sheet
		Ataxia telangiectasia (A-T) is a primary immunodeficiency disease which affects a number of different organs in the body.
		Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life.
		The cloning and sequencing of the gene (named ATM, for ataxia telangiectasia, mutated) has opened several avenues of research to develop better treatment, including: (1) gene therapy; (2) the design of drugs to correct the function of the altered protein; and (3) direct replacement of the functional protein.
	www.cancer.gov /newscenter/ATMQandA (1824 words)

	Genetics & Cancer - Ataxia Telangiectasia (A-T)
		Ataxia Telangiectasia (A-T) There are mutations in some genes that potentially give a small predisposition to develop breast cancer.
		Ataxia telangiectasia is a rare childhood disease that affects the nervous system and other body systems.
		Ataxia telangiectasia is caused by mutations in a gene on chromosome 11 known as the ATM gene, which is involved in cell cycle control.
	www.montefiore.org /healthlibrary/centers/cancer/atxtel (294 words)

	eMedicine - Ataxia-telangiectasia : Article by Diego Calonje, MD (Site not responding. Last check: 2007-10-13)
		Telangiectasia of the bulbar conjunctiva first appears at 3-7 years and, subsequently, involves the malar areas, palate, ears, and antecubital and popliteal spaces.
		As the patient ages, the telangiectasia extends to the neck, the dorsum of the hands and feet, and in the antecubital and popliteal areas.
		Ataxia of stance and gait, greatly diminished tendon reflexes, dysmetria of the arm movements, decreased tone in the arms and legs, and flexor plantar reflexes are present.
	www.emedicine.com /oph/topic319.htm (1480 words)

	Ataxia (Ataxia-telangiectasia)
		Friedreich's Ataxia (FA) is the most common inherited ataxia, with symptoms generally appearing between the ages of 8 and 15.
		Ataxia can be caused by birth trauma, a congenital disorder, infection, a degenerative disorder, tumor, exposure to a toxic substance, or head injury.
		Congenital ataxia is an autosomal recessive disease, which means that both parents must carry the defective gene and a child must inherit one defective gene copy from each parent to develop symptoms.
	www.hmc.psu.edu /childrens/healthinfo/a/ataxia.htm (1093 words)

	eMedicine - Ataxia-Telangiectasia : Article by Sergiusz Jozwiak, MD, PhD (Site not responding. Last check: 2007-10-13)
		From this early stage, ataxia is associated with abnormal head movements and is slowly and steadily progressive; however, the normal development of motor skills between ages 2-5 years tends to mask the progression of ataxia, so that parents may report an actual improvement in gait.
		Centerwall WR, Miller MM: Ataxia, telangiectasia, and sinopulmonary infections; a syndrome of slowly progressive deterioration in childhood.
		Foray N, Priestley A, Alsbeih G, et al: Hypersensitivity of ataxia telangiectasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA double-strand breaks.
	www.emedicine.com /derm/topic691.htm (6435 words)

	Ataxia-Telangiectasia
		Children with Ataxia- Telangiectasia (AT) may sway when they stand or sit, and they wobble or stagger when they walk.
		Dilated blood vessels (telangiectasia) become apparent after the onset of the ataxia, generally between 2 and 8 years of age.
		Telangiectasias usually occur on the white portion of the eye (bulbar conjunctiva) but may also be found on the ears, neck and extremities.
	www.immunedisease.com /US/patients/IDF/ataxia.html (1398 words)

	Abnormal White Matter Signal in Ataxia Telangiectasia -- Ciemins and Horowitz 21 (8): 1483 -- American Journal of ...
		Images from the case of a 31-year-old woman with a 20-year history of ataxia telangiectasia who was admitted to the hospital after complaining of dizziness, headaches, and mood changes.
		Ataxia telangiectasia is inherited as an autosomal recessive
		Boder E, Sedgwick R. Ataxia-telangiectasia: a familial syndrome of cerebellar ataxia, oculocutaneous telangiectasias and frequent pulmonary infection: a preliminary report on seven children, an autopsy and a case biopsy.
	www.ajnr.org /cgi/content/full/21/8/1483 (1244 words)

	Ataxia Telangiectasia
		Ataxia telangiectasia (A-T) is a rare, progressive, neurodegenerative childhood disease that affects the nervous system and other body systems.
		The first signs of the disease, which include lack of balance and slurred speech, usually occur during the first decade of life.
		The hallmarks of A-T are ataxia (lack of muscle control) and telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks soon after the onset of ataxia.
	healthlink.mcw.edu /article/921385170.html (253 words)

	Ataxia-Telangiectasia
		Ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between one and four years of age, oculomotor apraxia, frequent infections, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, and an increased risk for malignancy, particularly leukemia and lymphoma.
		Ataxia with Oculomotor Apraxia Type 2.) The prevalence of A-T is one in 40,000-100,000 live births in the US.
		Woods CG and Taylor AM (1992) Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals.
	www.geneclinics.org /profiles/ataxia-telangiectasia/details.html (4967 words)

	Images in Clinical Practice
		Patient sitting with support of outstretched arms and forwardk bending of the toros due to truncal ataxia.
		Ataxia telangiectasia is a progressive neurologic disorder which has a birth frequency of 1 in 300,000.
		Classical clinical features are progressive cerebellar ataxia which is initially truncal and presence of telangiectasia on bulbar conjunctiva.
	www.indianpediatrics.net /dec-99/99-dec-29.htm (225 words)

	UCP UCP Research and Educational Foundation (UCPREF): Research Fact Sheets - General Info (Site not responding. Last check: 2007-10-13)
		The diagnosis of cerebral palsy is sometimes made in error when a genetic disorder has symptoms which resemble those of cerebral palsy.
		One such genetic disorder is ataxia telangiectasia (A.T.).
		Ataxia: An inability to coordinate muscles in the execution of a voluntary movement
	www.ucp.org /ucp_generaldoc.cfm/1/4/24/24-6607/146 (426 words)

	Gale Encyclopedia of Medicine: Ataxia-telangiectasia (Site not responding. Last check: 2007-10-13)
		The name is a combination of two recognized disorders: ataxia (lack of muscle control) and telangiectasia (tiny, red spots).
		The root cause of A-T-associated ataxia is cell death in the brain, specifically the large branching cells of the nervous system (Purkinje's cells) which are located in the middle layer of the lower part of the brain (the cerebellum).
		However, this may be difficult as ataxia symptoms may appear prior to telangiectasia symptoms by several years.
	www.findarticles.com /p/articles/mi_g2601/is_0001/ai_2601000157 (980 words)

	Ataxia telangiectasia (Site not responding. Last check: 2007-10-13)
		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
		ATM (Ataxia telangiectasia mutated) is responsible for the vast majority of A -T cases.
		New data on clonal anomalies of chromosome 14 in ataxia telangiectasia: tct(14;14) and inv(14).
	www.infobiogen.fr /services/chromcancer/Kprones/ataxia.html (1008 words)

	Ataxia Telangiectasia (A-T)
		The risk for breast cancer may be increased for carriers of theA-T gene.
		telangiectasias (tiny, red "spider" veins) in the corners of the eyes orsurfaces of the ears and cheeks (soon after the onset of ataxia)
		This neurodegenerative disorder is inherited in an autosomal recessive fashion, which means that two mutated ATM genes are necessary to produce the condition -one inherited from each parent.
	www.healthsystem.virginia.edu /uvahealth/adult_breast/ataxia.cfm (283 words)

	Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia -- Cabana et al. 102 (1): 98 -- Pediatrics
		The diagnosis of AT is most obvious when the clinical findings of ataxia and oculocutaneous telangiectasia are present.
		From our review of 70 cases, the age of recognition of telangiectasia was similar to that of previous case series.
		telangiectasia: a human mutation with abnormal radiation sensitivity.
	pediatrics.aappublications.org /cgi/content/full/102/1/98 (1889 words)

	MedlinePlus: Ataxia Telangiectasia
		Ataxia Telangiectasia (National Institute of Neurological Disorders and Stroke) - Short Summary
		Select services and providers for Ataxia Telangiectasia in your area.
		The primary NIH organization for research on Ataxia Telangiectasia is the National Institute of Neurological Disorders and Stroke
	www.nlm.nih.gov /medlineplus/ataxiatelangiectasia.html (119 words)

	Ataxia-telangiectasia (Site not responding. Last check: 2007-10-13)
		The name is a combination of two recognized abnormalities: ataxia (lack of muscle control) and telangiectasia (abnormal dilatation of capillary vessels that often result in tumors and red skin lesions).
		The root cause of A-T-associated ataxia is cell death in the brain, specifically the large branching cells of the nervous system (Purkinje's cells) which are located in the cerebellum.
		However, this may be difficult as ataxia symptoms do appear prior to telangiectasia symptoms by several years.
	www.healthatoz.com /healthatoz/Atoz/ency/ataxia-telangiectasia.jsp (1292 words)

	MedlinePlus Medical Encyclopedia: Ataxia - telangiectasia
		The most obvious symptoms of the disease are multiple telangiectases that are easily visible in the white of the eye and skin areas such as the ear and nose, graying of the hair, and irregular pigmentation of the skin in areas exposed to sunlight.
		In addition, there is decreased coordination of movements (ataxia) in late childhood.
		Dilated blood vessels in the whites of the eyes
	www.nlm.nih.gov /medlineplus/ency/article/001394.htm (483 words)

	Dr. Koop - Ataxia - telangiectasia
		Ataxia-telangiectasia is an inherited disorder that affects many tissues and systems in the body.
		The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
		You should promptly seek professional medical care if you have any concern about your health, and you should always consult your physician before starting a fitness regimen.
	www.drkoop.com /ency/93/001394.html (276 words)

	Ataxia telangiectasia. DermNet NZ
		Ataxia telangiectasia (A-T) is a rare inherited disorder that is characterised by ataxia (lack of co-ordination) and telangiectases (tiny red spider-like veins) on the skin and eyes.
		Children with A-T appear normal at birth and it is not until they learn to walk that it becomes apparent there is a problem.
		Ataxia results from the progressive degeneration of a part of the brain called the cerebellum.
	dermnetnz.org /systemic/ataxia-telangiectasia.html (412 words)

	Ataxia
		The National Ataxia Foundation is a nonprofit organization established in 1957 with the primary mission of encouraging and supporting research into Hereditary Ataxia, a group of neurological disorders which are chronic and progressive conditions affecting coordination.
		Locating families affected by ataxia or at risk for ataxia in order to offer information and education.
		INTERNAF is an international e-mail based forum to exchange information and support for those who are diagnosed with Ataxia, their families and friends as well as anyone who has an interest in these disorders.
	www.familyvillage.wisc.edu /lib_atax.htm (250 words)

	Ataxia Telangiectasia Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Ataxia Telangiectasia Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Ataxia telangiectasia (A-T) is a rare, progressive, neurodegenerative childhood disease that affects the brain and other body systems.
		Ataxias and Cerebellar/Spinocerebellar Degeneration information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
	www.ninds.nih.gov /disorders/a_t/a-t.htm (440 words)

	BioCarta - Charting Pathways of Life
		The ataxia telangiectasia-mutated gene (ATM) encodes a protein kinase that acts as a tumor suppressor.
		ATM activation by ionizing radiation damage to DNA stimulates DNA repair and blocks progression through the cell cycle.
		Mutation of the ATM gene causes the disease ataxia telangiectasia which which involves an inherited predisposition to some cancers.
	www.biocarta.com /pathfiles/atmPathway.asp (106 words)

	ATM - Ataxia telangiectasia mutated (includes complementation groups A, C and D) - aka: ATA, ATC - Cancer GeneticsWeb
		ATM; Ataxia telangiectasia mutated (includes complementation groups A, C and D)
		Overview: Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, telangiectases, immunodeficiency, radiosensitivity and predisposition to lymphatic leukemias and other malignancies.
		There are a number of sub-types of AT and at least 4 of the complementation groups are associated with mutations in the ATM gene.
	www.cancerindex.org /geneweb/ATM.htm (613 words)

	Ataxia Telangiectasia / Family Village Library
		This non-profit 501(C)(3) was formed to raise funds through events and contributions from corporations, foundations, and friends.
		These funds are then used to accelerate first-rate, international scientific research aimed at finding a cure and improving the lives of all children with Ataxia Telangiectasia.
		This private, non-profit organization was founded in 1984 by Pam and George Smith, whose daughter Rebecca has A-T. The sole purpose of this foundation is to fund medical research that may lead to a cure for ataxia-telangiectasia.
	www.familyvillage.wisc.edu /lib_attl.htm (281 words)

	Ataxia-telangiectasia - Genetics Home Reference (Site not responding. Last check: 2007-10-13)
		Ataxia-telangiectasia is a rare inherited disorder of childhood that affects the nervous system, immune system, and other body systems.
		This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood.
		Affected children typically develop difficulty walking, problems with balance, abnormal eye movements, and slurred speech.
	ghr.nlm.nih.gov /condition=ataxiatelangiectasia (669 words)

	Ataxia Telangiectasia - Compare Prices & Reviews at Smarter
		Ataxia Telangiectasia - Compare Prices & Reviews at Smarter
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		Jude Children's Research Hospital has developed a unique protocol to treat cancer in children with ataxia telangeictasia (at).
	www.smarter.com /books-1/product/ataxia_telangiectasia-133625 (144 words)

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