<?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>2256-5655</journal-id>
<journal-title><![CDATA[Revista Colombiana de Medicina Física y Rehabilitación]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Col Med Fis Rehab]]></abbrev-journal-title>
<issn>2256-5655</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Colombiana de Medicina Física y Rehabilitación]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2256-56552022000200208</article-id>
<article-id pub-id-type="doi">10.28957/rcmfr.346</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Ataxia espinocerebelosa tipo 10 de inicio tardío]]></article-title>
<article-title xml:lang="en"><![CDATA[Late-onset spinocerebellar ataxia type 10]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Leiva]]></surname>
<given-names><![CDATA[Luz Miriam]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zuluaga]]></surname>
<given-names><![CDATA[María Eugenia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Espinosa]]></surname>
<given-names><![CDATA[Katalina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Delgado-Argote]]></surname>
<given-names><![CDATA[Hamilton]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramirez-Cheyne]]></surname>
<given-names><![CDATA[Julián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle  ]]></institution>
<addr-line><![CDATA[Santiago de Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad del Valle  ]]></institution>
<addr-line><![CDATA[Santiago de Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad del Valle  ]]></institution>
<addr-line><![CDATA[Santiago de Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad ICESI  ]]></institution>
<addr-line><![CDATA[Santiago de Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,aff5  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<volume>32</volume>
<numero>2</numero>
<fpage>208</fpage>
<lpage>214</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S2256-56552022000200208&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S2256-56552022000200208&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S2256-56552022000200208&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción. La ataxia espinocerebelosa es un grupo de desórdenes genéticos que consisten en una degeneración progresiva que afecta principalmente al cerebelo, el tronco encefálico y la médula espinal, y se asocia de forma variable con otros síntomas neurológicos.  Presentación del caso. Mujer de 60 años sin antecedentes médicos relevantes, quien consultó al servicio de fisiatría por cuadro clínico de dos años de evolución consistente en alteración progresiva en la marcha, pérdida de fuerza en miembros inferiores, temblor en miembros superiores, disfagia y fatiga. Al examen físico se encontró disartria leve, disdiadococinesia, dismetría, sacadas hipométricas bilaterales y marcha atáxica. Se realizó resonancia magnética nuclear (RMN) del cerebro que mostró atrofia cerebelosa, y electromiografía y neuroconducciones que confirmó polirradiculoneuropatía axonal. Las pruebas genéticas moleculares evidenciaron expansión de una de una repetición de pentanucleotidos ATTCT, lo que confirmó el diagnóstico de ataxia cerebelosa tipo 10 (SCA10). Se inició manejo multidisciplinario donde fisiatría inició plan de rehabilitación neurológica, manejo del dolor con neuromodulador y prescripción de dispositivo de asistencia para la movilidad tipo caminador. La paciente mejoró su independencia en actividades de la vida diaria: el índice de Barthel pasó de 45 puntos a 75 tras 12 semanas en rehabilitación neurológica.  Conclusión. La SCA10 se consideró inicialmente como una ataxia cerebelosa pura asociada a convulsiones; sin embargo, en los últimos años la identificación de nuevas familias con este desorden ha revelado fenotipos más diversos, incluyendo polineuropatía, signos piramidales y deterioro cognitivo y neuropsiquiátrico. Se describe aquí un caso de SCA10 de inicio tardío (más de 50 años de edad) que podría ser el primero esporádico reportado en Colombia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction. Spinocerebellar ataxia constitutes a group of genetic disorders consisting of a progressive degeneration that primarily affects the cerebellum, the brainstem, and the spinal cord, and is variably associated with other neurological symptoms.  Case presentation. A 60-year-old woman with no relevant medical history, who consulted the service of physiatry due to a clinical picture of two years of evolution consisting of progressive gait disturbance, loss of strength in the lower limbs, tremor in the upper limbs, dysphagia and fatigue. Physical examination revealed mild dysarthria, dysdiadochokinesia, dysmetria, bilateral hypometric saccades, and ataxic gait. A nuclear magnetic resonance imaging (NMR) of the brain was performed, which showed cerebellar atrophy; and the electromyography and nerve conduction study confirmed axonal polyradiculoneuropathy. The molecular genetic testing revealed expansion of an ATTCT pentanucleotide repeat, confirming the diagnosis of cerebellar ataxia type 10 (SCA10). Multidisciplinary management was initiated, in which physiatry began a plan of neurological rehabilitation, pain management with a neuromodulator and prescription of a walker-type mobility assistance device. The patient improved her independence in activities of daily living: the Barthel index increased from 45 points to 75 after 12 weeks of neurological rehabilitation.  Conclusion. SCA10 was initially considered as a pure cerebellar ataxia associated with seizures; however, in recent years the identification of new families with this disorder has revealed more diverse phenotypes, including polyneuropathy, pyramidal signs, and cognitive and neuropsychiatric impairment. A case of late-onset SCA10 (over 50 years of age), which could be the first sporadic case reported in Colombia is described here.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Ataxia cerebelosa]]></kwd>
<kwd lng="es"><![CDATA[polineuropatías]]></kwd>
<kwd lng="es"><![CDATA[rehabilitación]]></kwd>
<kwd lng="en"><![CDATA[Cerebellar ataxia]]></kwd>
<kwd lng="en"><![CDATA[polyneuropathies]]></kwd>
<kwd lng="en"><![CDATA[rehabilitation]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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