Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?
Identifieur interne : 003080 ( Istex/Corpus ); précédent : 003079; suivant : 003081Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?
Auteurs : Adler ; Lawrence Wrabetz ; Mitchell F. Brin ; Howard I. HurtigSource :
- Movement Disorders [ 0885-3185 ] ; 1994.
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Abstract
We report a non‐Jewish, Anglo‐Saxon, American family, in which one sibling has dystonia, a second has cerebellar ataxia, and a third has a combination of dystonia and ataxia. All three siblings have pyramidal signs. Their mother and maternal uncle have tremor, and their maternal grandmother may have had a neurodegenerative disorder. Although the inheritance pattern is uncertain, this may represent phenotypic variability resulting from a single gene mutation. The multiple phenotypes within this family do not fit any known inherited neurodegenerative or metabolic disorder.
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DOI: 10.1002/mds.870090205
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All three siblings have pyramidal signs. Their mother and maternal uncle have tremor, and their maternal grandmother may have had a neurodegenerative disorder. Although the inheritance pattern is uncertain, this may represent phenotypic variability resulting from a single gene mutation. The multiple phenotypes within this family do not fit any known inherited neurodegenerative or metabolic disorder.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Dr. Adler</name><affiliations><json:string>Movement Disorder Center, Department of Neurology, Graduate Hospital, New York, U.S.A.</json:string></affiliations></json:item><json:item><name>Lawrence Wrabetz</name><affiliations><json:string>Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, New York, U.S.A.</json:string></affiliations></json:item><json:item><name>Mitchell F. 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All three siblings have pyramidal signs. Their mother and maternal uncle have tremor, and their maternal grandmother may have had a neurodegenerative disorder. Although the inheritance pattern is uncertain, this may represent phenotypic variability resulting from a single gene mutation. The multiple phenotypes within this family do not fit any known inherited neurodegenerative or metabolic disorder.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>A FAMILY WITH ATAXIA, DYSTONIA, AND TREMOR</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Cerebellar ataxia, dystonia, and tremor within a family: Variable phenotypes of a single genetic disorder?</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Adler</namePart><affiliation>Movement Disorder Center, Department of Neurology, Graduate Hospital, New York, U.S.A.</affiliation><description>Correspondence: Dept. of Neurology, Mayo Clinic Scottsdale, 13400 E. 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All three siblings have pyramidal signs. Their mother and maternal uncle have tremor, and their maternal grandmother may have had a neurodegenerative disorder. Although the inheritance pattern is uncertain, this may represent phenotypic variability resulting from a single gene mutation. The multiple phenotypes within this family do not fit any known inherited neurodegenerative or metabolic disorder.</abstract><subject lang="en"><genre>Keywords</genre><topic>Ataxia</topic><topic>Dystonia</topic><topic>Cerebellar disorder</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. 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