<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1657-9534</journal-id>
<journal-title><![CDATA[Colombia Médica]]></journal-title>
<abbrev-journal-title><![CDATA[Colomb. Med.]]></abbrev-journal-title>
<issn>1657-9534</issn>
<publisher>
<publisher-name><![CDATA[Universidad del Valle]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1657-95342017000300148</article-id>
<article-id pub-id-type="doi">10.25100/cm.v48i3.3019</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Tremor-Ataxia syndrome and primary ovarian insufficiency in an FMR1 premutation carrier]]></article-title>
<article-title xml:lang="es"><![CDATA[Síndrome de Tremor Ataxia y falla ovárica prematura en portadora de la premutación del gen FMR1]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Saldarriaga-Gil]]></surname>
<given-names><![CDATA[Wilmar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rodriguez-Guerrero]]></surname>
<given-names><![CDATA[Tatiana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fandiño-Losada]]></surname>
<given-names><![CDATA[Andres]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramirez-Cheyne]]></surname>
<given-names><![CDATA[Julian]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle Facultad de Salud Grupo de investigación MACOS]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Valle Facultad de Salud Departamento de Medicina y Cirugía]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad del Valle Escuela de Salud Pública ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2017</year>
</pub-date>
<volume>48</volume>
<numero>3</numero>
<fpage>148</fpage>
<lpage>151</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S1657-95342017000300148&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S1657-95342017000300148&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S1657-95342017000300148&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction:  The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) syndrome.  Case description:  The patient was a 53-year-old female farmer with severe tremor in the upper limbs at rest that worsens with movement, tremor in the jaw and tongue, and generalized cerebral atrophy. She is a carrier of the FMR1 premutation diagnosed by PCR and Southern Blot, complying with the clinical and radiological criteria of FXTAS, and in addition, has a history of vagal symptoms suggestive of ovarian failure and menstrual cycle disorders that led to hysterectomy at age 33 and was subsequently diagnosed with FXPOI.  Conclusion: An unusual case of FXTAS and FXPOI complying with clinical and radiological criteria is reported in a premutation carrier of the FMR1 gene.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: el gen FMR1 tiene cuatro variantes alélicas según el número de repeticiones de la tripleta CGG. Los portadores de la premutación con un número entre 55 y 200 repeticiones son susceptibles de desarrollar patologías como el síndrome de temblor y ataxia (FXTAS) y síndrome de falla ovárica prematura (FXPOI) asociados al X frágil.  Descripción del caso: Mujer de 53 años, agricultora, con temblor severo en miembros superiores en reposo que empeora con el movimiento, temblor en mandíbula y lengua, atrofia cerebral generalizada, portadora de la premutación del gen FMR1 diagnosticada por PCR y Southern Blot, cumpliendo con criterios clínicos y radiológicos de FXTAS; ademas, historia de síntomas vagales sugestivos de falla ovárica y trastornos del ciclo menstrual que llevaron a histerectomía a los 33 años, haciendose diagnóstico FXPOI.  Conclusión:  Se reporta un caso inusual en portadoras de la premutación del gen FMR1, con criterios clínicos y radiológicos de FXTAS y FXPOI.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Fragile X Tremor Ataxia Syndrome]]></kwd>
<kwd lng="en"><![CDATA[Ataxia/complications]]></kwd>
<kwd lng="en"><![CDATA[Ataxia/diagnosis]]></kwd>
<kwd lng="en"><![CDATA[Ataxia/genetics]]></kwd>
<kwd lng="en"><![CDATA[FXPOI]]></kwd>
<kwd lng="en"><![CDATA[FXTAS]]></kwd>
<kwd lng="en"><![CDATA[FMR1gen]]></kwd>
<kwd lng="es"><![CDATA[síndrome de temblor y ataxia X fragil]]></kwd>
<kwd lng="es"><![CDATA[complicaciones/ataxia]]></kwd>
<kwd lng="es"><![CDATA[diagnostico/ataxia]]></kwd>
<kwd lng="es"><![CDATA[genetica/ataxia,]]></kwd>
<kwd lng="es"><![CDATA[FXPOI]]></kwd>
<kwd lng="es"><![CDATA[FXTAS]]></kwd>
<kwd lng="es"><![CDATA[gen FMR1]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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