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Friedreich Ataxia: more books (31)

Case of primary combined column disease: Presented to the Section on Neurology and Medical Jurisprudence at the Forty-eighth Annual Meeting of the American ... held at Philadelphia, Pa., June 1-4, 1897 by John K Mitchell, 1898
On sclerosis of the spinal cord: Including locomotor ataxy, spastic spinal paralysis, and other system-diseases of the spinal cord: their pathology, symptoms, diagnosis, and treatment by Julius Althaus, 1885

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MedlinePlus Medical Encyclopedia: Friedreich's Ataxia
friedreich s ataxia. kyphoscoliosis may develop. Individuals with friedreich s ataxia may also have hammer toe and high arches. Heart disease
http://www.nlm.nih.gov/medlineplus/ency/article/001411.htm

Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Central nervous system Alternative names Return to top Spinocerebellar degeneration Definition Return to top Friedreich's ataxia is an inherited form of progressive dysfunction of the cerebellum (the part of the brain responsible for movement and complex behavior), spinal cord, and peripheral nerves. Causes, incidence, and risk factors Return to top Friedreich's ataxia is an autosomal recessive condition, which means that a person must inherit the defective gene from both parents in order to be affected. It is a polyneuropathy, which means that there is damage to multiple nerves The condition affects 1 in 50,000 people. Symptoms are caused by degeneration of structures in the cerebellum and spinal cord responsible for coordination, muscle movement, and some sensory functions. Vision, particularly color vision, is often mildly affected. Hearing loss occurs in about 10% of patients.
Medical Encyclopedia: Friedreich's Ataxia (Print Version)
Medical Encyclopedia friedreich s ataxia. URL Individuals with friedreich s ataxia may also have hammer toe and high arches. Heart
http://www.nlm.nih.gov/medlineplus/print/ency/article/001411.htm

Extractions: To close this window, click on the "x" in the upper right hand corner of the window. URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001411.htm Alternative names Spinocerebellar degeneration Definition Friedreich's ataxia is an inherited form of progressive dysfunction of the cerebellum (the part of the brain responsible for movement and complex behavior), spinal cord, and peripheral nerves. Causes, incidence, and risk factors Friedreich's ataxia is an autosomal recessive condition, which means that a person must inherit the defective gene from both parents in order to be affected. It is a polyneuropathy, which means that there is damage to multiple nerves The condition affects 1 in 50,000 people. Symptoms are caused by degeneration of structures in the cerebellum and spinal cord responsible for coordination, muscle movement, and some sensory functions. Vision, particularly color vision, is often mildly affected. Hearing loss occurs in about 10% of patients.
InteliHealth: Friedreich's Ataxia
referenced in an AZ format. friedreich s ataxia. Health A to Z, Reviewed by the Faculty of Harvard Medical School friedreich s ataxia
http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/11087.html

Extractions: Friedreich's Ataxia What Is It? Symptoms Diagnosis Expected Duration ... Additional Info What Is It? Friedreich's ataxia is an inherited (genetic) disorder that causes certain nerve cells to deteriorate over time. In many cases, this disorder also affects the heart, certain bones and cells in the pancreas that produce insulin. The illness typically begins with difficulty walking. People with Friedreich's ataxia develop clumsy, shaky movements of the legs (called gait ataxia) during childhood or early adolescence. (In rare cases, symptoms appear in infants and in middle-aged adults.) As the disease gets worse, people may develop bony deformities of the spine and feet, loss of sensation in the limbs, speech problems, abnormal eye movements, heart disease and diabetes.
Friedreich's Ataxia
friedreich S ataxia (FRDA) is a rare inherited disease characterized by the progressive loss of voluntary muscular coordination (ataxia) and heart enlargement.
http://www.ncbi.nlm.nih.gov/disease/Frda.html

Extractions: FRIEDREICH'S ATAXIA (FRDA) is a rare inherited disease characterized by the progressive loss of voluntary muscular coordination (ataxia) and heart enlargement. It is named after the German doctor, Nikolaus Friedreich, who first described the disease in 1863. FRDA is generally diagnosed in childhood and affects both males and females. FRDA is an autosomal recessive disease caused by a mutation of a gene called frataxin, which is located on chromosome 9. This mutation means that there are many extra copies of a DNA segment, the trinucleotide GAA. A normal individual has 8 to 30 copies of this trinucleotide, while FRDA patients have as many as 1000. The larger the number of GAA copies, the earlier the onset of the disease and the quicker the decline of the patient. Although we know that frataxin is found in the mitochondria of humans, we do not yet know its function. However, there is a very similar protein in yeast, YFH1, which we know more about. YFH1 is involved in controlling iron levels and respiratory function. Since frataxin and YFH1 are so similar, studying YFH1 may help us understand the role of frataxin in FRDA.
Friedreich's Ataxia
Genes and Disease PDF Document The Nervous System friedreich s ataxia friedreich s ataxia (FRDA) is a rare inherited disease characterized
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect
Friedreich's Ataxia
friedreich s ataxia. Definition. friedreich s ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination.
http://www.healthatoz.com/healthatoz/Atoz/ency/friedreichs_ataxia.html

Extractions: Definition Friedreich's ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination. Description Ataxia is a condition marked by impaired coordination. Friedreich's ataxia is the most common inherited ataxia, affecting between 3,000-5,000 people in the United States. FA is an autosomal recessive disease, which means that two defective gene copies must be inherited to develop symptoms, one from each parent. A person with only one defective gene copy will not show signs of FA, but may pass along the gene to offspring. Couples with one child affected by FA have a 25% chance in each pregnancy of conceiving another affected child. Causes and symptoms Causes The gene for FA codes for a protein called frataxin. Normal frataxin is found in the cellular energy structures known as mitochondria, where it is thought to be involved in regulating the transport of iron. In FA, the frataxin gene on chromosome 9 is expanded with nonsense information known as a "triple repeat." This extra DNA interferes with normal production of frataxin, thereby impairing iron transport. Normally, there are 10-21 repeats of the frataxin gene. In FA, this sequence may be repeated between 200-900 times. The types of symptoms and severity of FA seems to be associated with the number of repetitions. Patients with more copies have more severe symptomatology. Researchers are still wrestling with how frataxin and the repeats on chromosome 9 are involved in causing FA. One theory suggests that FA develops in part because defects in iron transport prevent efficient use of cellular energy supplies.
FRIEDREICH'S ATAXIA: Contact A Family - For Families With Disabled Children: Inf
printer friendly, friedreich S ataxia, friedreich s ataxia Recessive SpinoCerebellar Degeneration. friedreich s ataxia is a genetic
http://www.cafamily.org.uk/Direct/f36.html

Extractions: helpful? yes no Friedreich's Ataxia: Recessive Spino-Cerebellar Degeneration Friedreich's Ataxia is a genetic disorder characterised by a progressive degeneration of the spino-cerebellar system due to an abnormality of a gene on chromosome 9 (called Frataxin). The first sign of the disorder is unsteadiness of gait (ataxia). The onset of the condition is variable but usually occurs between the ages of four and sixteen (but occasionally between 18 months and thirty years). Although most cases present under the age of 25 very rarely it may produce with an ataxia of much later onset. An onset into the 6th and 7th decades have been found. Therefore it is worth considering even in older patients if some of the other clinical hallmarks are present. The genetic abnormality in the majority (95 per cent plus) is an expansion in the genetic code in the Friedreich ataxia gene. This expansion can be readily detected using a variety of molecular methods. However a small percentage (less than 5 per cent) may just have one expansion in one copy of their gene and the other copy may have a much more subtle abnormality called a point mutation. These latter abnormalities are more difficult to detect and need to be specially requested from the laboratory. The onset of the condition is insidious and affects co-ordination of the muscles used in speech, the arms and legs.
HealthCentral - General Encyclopedia - Friedreich's Ataxia
friedreich s ataxia. Causes, incidence, and risk factors friedreich s ataxia is an autosomal recessive inherited polyneuropathy (damage to multiple nerves).
http://www.healthcentral.com/mhc/top/001411.cfm

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HealthCentral.com
friedreich s ataxia. Definition. friedreich s ataxia is caused by an abnormality in one of the genes, called X25, located in the ninth chromosome pair.
http://www.healthcentral.com/library/librarycontent.cfm?id=13
LookSmart - Directory - Friedreich's Ataxia
Metabolic friedreich s ataxia. friedreich s ataxia Contains guides and factsheets to the ailment known as friedreich s ataxia.
http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us330917/us27
Friedreich's Ataxia
friedreich s ataxia. Definition friedreich s ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination.
http://www.chclibrary.org/micromed/00048760.html

Extractions: The gene for FA codes for a protein called frataxin. Normal frataxin is found in the cellular energy structures known as mitochondria, where it is involved in regulating the transport of iron. In FA, the frataxin gene is expanded with nonsense information known as a "triple repeat." This extra DNA interferes with normal production of frataxin, thereby impairing iron transport. FA is thought to develop at least in part because defects in iron transport prevent efficient use of cellular energy supplies. The nerve cells most affected by FA are those in the spinal cord involved in relaying information between muscles and the brain. Tight control of movement requires complex feedback between the muscles promoting a movement, those restraining it, and the brain. Without this control, movements become uncoordinated, jerky, and inappropriate to the desired action. Symptoms Symptoms of FA usually first appear between the ages of 8 and 15, although onset as early as 18 months or as late as age 25 is possible. The first symptom is usually gait incoordination. A child with FA may graze doorways when passing through, for instance, or trip over low obstacles. Unsteadiness when standing still and deterioration of position sense is common. Foot deformities and walking up off the heels often results from uneven muscle weakness in the legs.
Friedreich-ataxia (FA)
friedreichataxia (FA) Informatie van VSN over Ataxie van friedreich; friedreich s ataxia Parents Group Informatie en lotgenotencontact, engelstalig
http://www.erfocentrum.nl/zena/fried.php
Friedreich
friedreich s ataxia. friedreich s ataxia is a slowly progressive disorder of the nervous system and muscles. The disorder, named
http://www.psychology.psych.ndsu.nodak.edu/mccourt/website/htdocs/HomePage/Psy48
Friedreich's Ataxia
friedreich s ataxia, Causes. friedreich s ataxia is caused by an abnormality in one of the genes, called X25, located in the ninth chromosome pair.
http://ww3.komotv.com/global/story.asp?s=1230490
Idebenone Alzheimer's & Friedreich's Ataxia Research Website
Idebenone Alzheimer s research, Idebenone friedreich s ataxia research, idebenone stroke rearch. Alzheimer s disease www.AlzheimersTreatments
http://www.idebenone.info/
Idebenone And Cardiac Hypertrophy In Friedreich's Ataxia
Idebenone and reduced cardiac hypertrophy in friedreich s ataxia. BACKGROUND friedreich s ataxia encodes a protein of unknown function, frataxin.
http://www.idebenone.info/Idebenone/idebenone-research-65.htm

Extractions: Abstract BACKGROUND: Friedreich's ataxia encodes a protein of unknown function, frataxin. The loss of frataxin is caused by a large GAA trinucleotide expansion in the first intron of the gene, resulting in deficiency of a Krebs cycle enzyme, aconitase, and of three mitochondrial respiratory chain complexes (I-III). This causes oxidative stress. Idebenone, a short chain quinone acting as an antioxidant, has been shown to protect heart muscle against oxidative stress in some patients.
FRIEDREICH'S ATAXIA
friedreich`s ataxia is a slowly progressive disorder of the nervous system and muscles. friedreich S ataxia. What is friedreich s ataxia?
http://www.mydr.com.au/default.asp?article=2412
Pipet's Parlour: Friedreich's Ataxia
friedreich s ataxia links Muscular Dystrophy Association of Australiafriedreich s ataxia Describes many features of the disease.
http://www.geocities.com/CapeCanaveral/Lab/6801/frataxin.html

Extractions: Read my mock research proposal, Deciphering the Role of Frataxin . It was written to partially fulfill the first qualifying exam of my PhD program. In it I propose experiments that could help identify a function for frataxin, the protein known to cause the devastating effects of the disease, give background info , and discuss specific experimental methods Friedreich's ataxia links
Friedreich's Ataxia
The following is a brief look at friedreich s ataxia (FA). I will explain what FA is and its typical symptoms. What is friedreich s ataxia?
http://www.geocities.com/andysannex/fa.html

Extractions: The following is a brief look at Friedreich's Ataxia (FA). I will explain what FA is and its typical symptoms. It is important to note that this disease affects everyone differently and I feel it is meaningful to understand the different experiences of everyone afflicted with FA. What is Friedreich's Ataxia? What Causes FA? What are the symtoms of FA? FA Research ... My Story What is Friedreich's Ataxia? Friedreich's Ataxia is a rare, genetic, progressive, neurological disorder first discovered in the early 1860's by Nicholaus Friedreich. This disease affects the cerebellum and the nervous system. FA affects about one in 50,000 people, making it the most common in a group of related disorders called hereditary ataxias. In 1996 the FAgene was located on chromosome 9 by researchers in Houston, Texas. Usually the first symptoms are clumsiness or lack of coordination of the arms and/or legs, muscle weakness, inability to run, difficulty walking caused by ataxia which means - a loss of balance and coordination. Symptoms may also include, heart conditions, diabetes, scoliosis, some hearing and vision loss. Its effects on the heart range from mild, nonsymptomatic abnormalities to life-threatening problems in the hearts musculature. Symptoms usually begin in childhood or early adolescence but sometimes they may appear later in adult-hood. It doesnt affect parts of the brain involved in thinking. As time goes on, this disease and its symptoms will progress until individuals MAY need a wheelchair for mobility.
NINDS Friedreich's Ataxia Information Page
More about friedreich s ataxia, Studies with patients, Research literature, Press releases, NINDS friedreich s ataxia Information Page Reviewed 0801-2000
http://www.medhelp.org/NIHlib/GF-283.html

Extractions: There is currently no effective cure or treatment for Friedreich's ataxia. However, many of the symptoms and accompanying complications can be treated to help patients maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs. What is the prognosis?

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