Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042875 (vitamin E deficiency)
 916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This review summarizes recent advances that have taken place in the field of inherited ataxias. There is increasing understanding of these disorders, primarily because of advances in the field of molecular genetics. Although the Friedreich's ataxia gene has not been cloned yet, there is increasing information about the precise location of this mutation. The chromosomal location for a distinct type of recessive ataxia associated with vitamin E deficiency was discovered. An adult- onset Friedreich's phenotype may result from a gene abnormality of the same locus as classic Friedreich's ataxia. Two distinct types of dominantly inherited ataxic syndromes are due to different trinucleotide repeat mutations, one on chromosome 6 (spinocerebellar ataxia type 1) and another on chromosome 12 (dentatorubropallidoluysian atrophy). The genes for Machado-Joseph disease as well as for a distinct type of dominantly inherited ataxia originally described from Cuba were mapped to chromosome 14 and chromosome 12, respectively. Advances were made in defining the imaging abnormalities seen in different types of ataxias.
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PMID:Degenerative ataxias. 795 39

Movement disorders are well known features of some dominant hereditary ataxias (HA), specially SCA3/Machado-Joseph disease and dentatorubropallidolusyan atrophy. However, little is known about the existence and classification of movement disorders in other dominant and recessive ataxias. We prospectively studied the presence of movement disorders in patients referred for HA over the last 3 years. Only those patients with a confirmed family history of ataxia were included. We studied 84 cases of HA, including 46 cases of recessive and 38 cases of dominant HA. Thirty out of 46 cases of recessive HA could be classified as: Friedreich ataxia (FA), 29 cases; vitamin E deficiency, 1 case. Twenty-three out of 38 cases of dominant HA could be classified as: SCA 2, 4 cases; SCA 3, 8 cases; SCA 6, 4 cases; SCA 7, 6 cases and SCA 8, 1 case. We observed movement disorders in 20/38 (52%) patients with dominant HA and 25/46 (54%) cases with recessive HA, including 16 patients (16/29) with FA. In general, postural tremor was the most frequent observed movement disorder (27 cases), followed by dystonia (22 cases). Five patients had akinetic rigid syndrome, and in 13 cases, several movement disorders coexisted. Movement disorders are frequent findings in HA, not only in dominant HA but also in recessive HA.
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PMID:Movement disorders in hereditary ataxias. 1222 Jun 93