Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Progress in molecular genetics has provided insight into a number of neurogenetic disorders. The chromosomal location of the genes for Huntington's disease, Wilson's disease, myotonic dystrophy and Friedreich's ataxia are now known. In families affected by these illnesses, linkage analysis can now be employed for presymptomatic or prenatal diagnosis. The genes for Duchenne and Becker muscular dystrophy and neurofibromatosis I have been cloned and sequenced, allowing the direct analysis of the genetic defect in many cases, and thereby providing further insight into the pathophysiology. In addition, the classification of several neurogenetic diseases, such as the hereditary motor and sensory neuropathies or the spinal muscular atrophies can now be based on the chromosomal location of the affected gene(s).
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PMID:[Neurogenetics--the challenge for neurology. 1. Neurogenetic diseases]. 174 51

A very rare form of heredofamilial spinocerebellar degenerative disorder is reported in a 12-year old boy and his 39-year old Fulani mother. The two cases were compatible with the clinical picture of Harding's variant of spastic ataxia of childhood--a clinical and genetic entity distinct from the more common Friedreich's ataxia. The mode of progression of the disease and the computed tomographic (CT) and electrophysiologic findings in both patients also support the diagnosis. In addition, the mother had the typical clinical picture of type-1 neurofibromatosis combined with the rare heredofamilial ataxic syndrome. The signs of neurofibromatosis could not be detected in her child. The cases were followed up regularly for 5 years with the aim of identifying possible complications. These cases are reported because of the extreme rarity of Harding's variant of heredofamilial ataxia and the rarity of the association of this disorder with type-1 neurofibromatosis.
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PMID:An unusual association of a rare variant of Friedreich's ataxia with type-I neurofibromatosis in a Nigerian Fulani family: a 5-year follow-up study. 1050 72

Back pain is a frequent complaint seen in neurological practice. In evaluating back pain, neurologists are asked to evaluate patients for radiculopathy, determine whether they may benefit from surgery, and help guide management. Although disc herniation is the most common etiology of compressive radiculopathy, there are many other causes, including genetic disorders. This article is a discussion of genetic disorders that cause or contribute to radiculopathies. These genetic disorders include neurofibromatosis, Paget's disease of bone, and ankylosing spondylitis. Numerous genetic disorders can also lead to deformities of the spine, including spinal muscular atrophy, Friedreich's ataxia, Charcot-Marie-Tooth disease, familial dysautonomia, idiopathic torsional dystonia, Marfan's syndrome, and Ehlers-Danlos syndrome. However, the extent of radiculopathy caused by spine deformities is essentially absent from the literature. Finally, recent investigation into the heritability of disc degeneration and lumbar disc herniation suggests a significant genetic component in the etiology of lumbar disc disease.
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PMID:Genetic disorders producing compressive radiculopathy. 1704 53