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2002
Publisher Summary This chapter discusses the features of Friedreich's ataxia (FRDA) including clinical features, pathological features, and genetic features. Friedreich's ataxia usually presents in adolescence and clinical features includes a progressive limb and gait ataxia, absence of deep-tendon reflexes, extensor plantar responses, and loss of ...
J M, Cooper, J L, Bradley
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Publisher Summary This chapter discusses the features of Friedreich's ataxia (FRDA) including clinical features, pathological features, and genetic features. Friedreich's ataxia usually presents in adolescence and clinical features includes a progressive limb and gait ataxia, absence of deep-tendon reflexes, extensor plantar responses, and loss of ...
J M, Cooper, J L, Bradley
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2001
This chapter discusses Friedreich's ataxia, the most frequent cause of inherited ataxia in Caucasians. The disease is, in most cases, due to a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene.
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This chapter discusses Friedreich's ataxia, the most frequent cause of inherited ataxia in Caucasians. The disease is, in most cases, due to a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene.
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Pediatrics, 1982
The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the age of 25 (mean 10.52) years in all the index cases. An analysis of early cases suggested that limb and truncal ataxia and absent tendon reflexes in the legs were the only consistent diagnostic criteria within five years of ...
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The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the age of 25 (mean 10.52) years in all the index cases. An analysis of early cases suggested that limb and truncal ataxia and absent tendon reflexes in the legs were the only consistent diagnostic criteria within five years of ...
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2014
Friedreich’s ataxia (FA) is a neurodegenerative disorder characterized by progressive ataxic gait and limb ataxia, limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, dysphagia, oculomotor dysfunction, nystagmus, decreased vibratory sense and proprioception, pyramidal tract signs (spasticity), diabetes, and ...
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Friedreich’s ataxia (FA) is a neurodegenerative disorder characterized by progressive ataxic gait and limb ataxia, limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, dysphagia, oculomotor dysfunction, nystagmus, decreased vibratory sense and proprioception, pyramidal tract signs (spasticity), diabetes, and ...
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2013
Friedreich’s ataxia is a rare but relentless neurodegenerative disease which affects one individual in 50 000. Being recessive, this hereditary condition is carried by one individual in ca. 120. Although it was first diagnosed in 1863 by Nikolaus Friedreich, it was only in 1996 that the genetic cause became clear: it is due to anomalous expansion of a ...
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Friedreich’s ataxia is a rare but relentless neurodegenerative disease which affects one individual in 50 000. Being recessive, this hereditary condition is carried by one individual in ca. 120. Although it was first diagnosed in 1863 by Nikolaus Friedreich, it was only in 1996 that the genetic cause became clear: it is due to anomalous expansion of a ...
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2000
Abstract Friedreich’s ataxia is an autosomal-recessive disease with a prevalence of between 1 and 2 per 100,000, characterized by symptoms and signs including progressive ataxia, absent tendon reflexes in the legs, distal impairment of position and vibration sense, Babinski reflexes, and dysarthria.
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Abstract Friedreich’s ataxia is an autosomal-recessive disease with a prevalence of between 1 and 2 per 100,000, characterized by symptoms and signs including progressive ataxia, absent tendon reflexes in the legs, distal impairment of position and vibration sense, Babinski reflexes, and dysarthria.
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Archives of Neurology & Psychiatry, 1938
After Friedreich (1863 1 ) described the form of ataxia which bears his name, the clinical and pathologic features of the morbid condition which he established were the subject of much controversy. Thus, Friedreich and Schultze 2 considered it a disease of the spinal cord (combined degeneration), while Senator, 3 on purely clinical grounds, looked on ...
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After Friedreich (1863 1 ) described the form of ataxia which bears his name, the clinical and pathologic features of the morbid condition which he established were the subject of much controversy. Thus, Friedreich and Schultze 2 considered it a disease of the spinal cord (combined degeneration), while Senator, 3 on purely clinical grounds, looked on ...
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Archives of Neurology & Psychiatry, 1927
Although reports of the occurrence of Friedreich's ataxia in siblings are not uncommon, rarely has an opportunity been presented for the clinical study during the different stages of the disease and of the spinal cord lesions in such cases. The cases here described were those of two brothers, fullblooded negroes, each of whom was 8 years of age when ...
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Although reports of the occurrence of Friedreich's ataxia in siblings are not uncommon, rarely has an opportunity been presented for the clinical study during the different stages of the disease and of the spinal cord lesions in such cases. The cases here described were those of two brothers, fullblooded negroes, each of whom was 8 years of age when ...
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2012
Friedreich’s ataxia (FRDA) is the most common of the autosomal recessive cerebellar ataxias. According to the Harding’s criteria, FRDA begins before the end of puberty or at least before the age of 25. The FRDA gene encodes frataxin, a protein which is involved in mitochondrial iron regulation.
Roongroj Bhidayasiri, Daniel Tarsy
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Friedreich’s ataxia (FRDA) is the most common of the autosomal recessive cerebellar ataxias. According to the Harding’s criteria, FRDA begins before the end of puberty or at least before the age of 25. The FRDA gene encodes frataxin, a protein which is involved in mitochondrial iron regulation.
Roongroj Bhidayasiri, Daniel Tarsy
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