Fragile X-Associated Tremor Ataxia Syndrome in FMR1 Gray Zone Allele Carriers
Identifieur interne : 001119 ( Main/Exploration ); précédent : 001118; suivant : 001120Fragile X-Associated Tremor Ataxia Syndrome in FMR1 Gray Zone Allele Carriers
Auteurs : Deborah Hall [États-Unis] ; Flora Tassone [États-Unis] ; Olga Klepitskaya [États-Unis] ; Maureen Leehey [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Background: Carriers of fragile X mental retardation 1 (FMR1) repeat expansions in the premutation range (55-200 CGG repeats) often develop a syndrome of kinetic tremor, cerebellar ataxia, and parkinsonism; designated the fragile X-associated tremor ataxia syndrome (FXTAS). Neurological signs have not been reported in carriers of gray zone (45-54 CGG repeats) expansions. Methods/Results: We describe 3 patients with FMR1 gray zone alleles who meet diagnostic criteria for FXTAS. Conclusions: Our cases suggest that the definition of the FXTAS may need to be broadened to include individuals with FMR1 repeat expansions in the gray zone. These neurological signs may be due to elevated levels of expanded CGG repeat FMR1 mRNA in the gray zone carriers, similar to the changes seen in premutation carriers with FXTAS.
Affiliations:
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type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Klepitskaya, Olga" sort="Klepitskaya, Olga" uniqKey="Klepitskaya O" first="Olga" last="Klepitskaya">Olga Klepitskaya</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology, University of Colorado Denver</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Leehey, Maureen" sort="Leehey, Maureen" uniqKey="Leehey M" first="Maureen" last="Leehey">Maureen Leehey</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology, University of Colorado Denver</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Colorado</region></placeName></affiliation></author></titleStmt><publicationStmt><idno 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University</s1><s2>Chicago, Illinois</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Biological Chemistry, University of California</s1><s2>Davis, California</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Klepitskaya, Olga" sort="Klepitskaya, Olga" uniqKey="Klepitskaya O" first="Olga" last="Klepitskaya">Olga Klepitskaya</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology, University of Colorado Denver</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Leehey, Maureen" sort="Leehey, Maureen" uniqKey="Leehey M" first="Maureen" last="Leehey">Maureen Leehey</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology, University of Colorado Denver</s1><s2>Aurora, Colorado</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Colorado</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term><term>Carrier</term><term>Fragile X-associated tremor/ataxia syndrome</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie</term><term>Pathologie du système nerveux</term><term>Porteur</term><term>Syndrome des tremblements ataxiques associé au X fragile</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Carriers of fragile X mental retardation 1 (FMR1) repeat expansions in the premutation range (55-200 CGG repeats) often develop a syndrome of kinetic tremor, cerebellar ataxia, and parkinsonism; designated the fragile X-associated tremor ataxia syndrome (FXTAS). Neurological signs have not been reported in carriers of gray zone (45-54 CGG repeats) expansions. Methods/Results: We describe 3 patients with FMR1 gray zone alleles who meet diagnostic criteria for FXTAS. Conclusions: Our cases suggest that the definition of the FXTAS may need to be broadened to include individuals with FMR1 repeat expansions in the gray zone. These neurological signs may be due to elevated levels of expanded CGG repeat FMR1 mRNA in the gray zone carriers, similar to the changes seen in premutation carriers with FXTAS.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Californie</li><li>Colorado</li><li>Illinois</li></region></list><tree><country name="États-Unis"><region name="Illinois"><name sortKey="Hall, Deborah" sort="Hall, Deborah" uniqKey="Hall D" first="Deborah" last="Hall">Deborah Hall</name></region><name sortKey="Klepitskaya, Olga" sort="Klepitskaya, Olga" uniqKey="Klepitskaya O" first="Olga" last="Klepitskaya">Olga Klepitskaya</name><name sortKey="Leehey, Maureen" sort="Leehey, Maureen" uniqKey="Leehey M" first="Maureen" last="Leehey">Maureen Leehey</name><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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