<?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>1665-5044</journal-id>
<journal-title><![CDATA[Revista mexicana de neurociencia]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. mex. neurocienc.]]></abbrev-journal-title>
<issn>1665-5044</issn>
<publisher>
<publisher-name><![CDATA[Academia Mexicana de Neurología A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-50442023000200041</article-id>
<article-id pub-id-type="doi">10.24875/rmn.22000071</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[What a neurologist must know of hereditary ATTRv amyloidosis]]></article-title>
<article-title xml:lang="es"><![CDATA[Lo que un neurólogo debe de saber sobre la amiloidosis hereditaria por TTR]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Briseño-Godínez]]></surname>
<given-names><![CDATA[María E.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cárdenas-Soto]]></surname>
<given-names><![CDATA[Karla]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Domínguez-Vega]]></surname>
<given-names><![CDATA[Rosa X.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González-Duarte]]></surname>
<given-names><![CDATA[Alejandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Neurología y Neurocirugía "Manuel Velasco Suárez" Department of Neurology ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán" Department of Neurology Small Fiber and Autonomic Laboratory]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,New York University School of Medicine Langone Medical Center Dysautonomia Center]]></institution>
<addr-line><![CDATA[New York ]]></addr-line>
<country>USA</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2023</year>
</pub-date>
<volume>24</volume>
<numero>2</numero>
<fpage>41</fpage>
<lpage>51</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-50442023000200041&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-50442023000200041&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-50442023000200041&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Transthyretin-related hereditary amyloidosis (ATTR) is a systemic disease result of an autosomal dominant mutation in the transthyretin (TTR) gene. This mutation will cause the deposition of misfolded TTR protein in several organs, leading to its dysfunction. The disease has been described worldwide, although it is still considered rare. It has a region-dependent genotype-phenotype correlation. Cardiomyopathy and a symmetric length-dependent sensory-motor and autonomic polyneuropathy are the hallmark manifestations. However, in non-endemic areas, the diagnosis will challenge the neurologist because some systemic manifestations are usually attributed to more common disorders. Therefore, in the approach of a patient with polyneuropathy, the presence of family history, early autonomic dysfunction (cardiovascular, genitourinary, or gastrointestinal features), cardiac involvement, and inexplicable weight loss should be considered red flags that point toward ATTR. After diagnosis, the goal will always be to have a multidisciplinary approach, including a complete neurologic, autonomic, and cardiologic assessment, to establish a short- and long-term strategy for treatment, including symptomatic and disease-modifying medications that are now available. In that way, the increased awareness among specialists will positively impact the patient quality of life and survival by accomplishing an earlier diagnosis and treatment.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La amiloidosis hereditaria por transtirretina (ATTR) es una enfermedad sistémica que resulta de una mutación autosómica dominante en el gen de la transtirretina (TTR). Esta mutación ocasiona que la proteína TTR mal plegada afecte a los distintos órganos llevándolos a su disfunción. Actualmente, la enfermedad ha sido descrita a nivel mundial, aunque sigue siendo considerada una enfermedad rara. Los pacientes con diagnóstico de ATTR pueden desarrollar diferentes grados de cardiomiopatía y polineuropatía sensitivo-motora y autonómica. Existe una estrecha correlación genotipo-fenotipo que se verá influenciada por la región geográfica. En zonas no endémicas, el diagnóstico representa un reto para el neurólogo, debido a que las manifestaciones sistémicas pueden ser confundidas con enfermedades más comunes. Por lo que dentro del abordaje de un paciente con polineuropatía la presencia de historia familiar, disfunción autonómica temprana (cardiovascular, genitourinaria o gastrointestinal), síntomas cardiacos y una inexplicable pérdida de peso deberán ser considerados como banderas rojas que hagan sospechar de ATTRv. Posterior al diagnóstico la meta será realizar un abordaje multidisciplinario incluyendo una evaluación neurológica, autonómica y cardiológica completa, para establecer una estrategia a corto y a largo plazo para el tratamiento sintomático y el tratamiento modificador de la enfermedad que se encuentran disponibles. De esta manera, logrando diagnósticos e inicios de tratamiento más tempranos, se impactará positivamente en la calidad de vida y supervivencia de estos pacientes.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Transthyretin]]></kwd>
<kwd lng="en"><![CDATA[ATTRv amyloidosis]]></kwd>
<kwd lng="en"><![CDATA[Neuropathy]]></kwd>
<kwd lng="en"><![CDATA[Neurologist]]></kwd>
<kwd lng="es"><![CDATA[Transtirretina]]></kwd>
<kwd lng="es"><![CDATA[ATTRv amiloidosis]]></kwd>
<kwd lng="es"><![CDATA[Neuropatía]]></kwd>
<kwd lng="es"><![CDATA[Neurólogo]]></kwd>
</kwd-group>
</article-meta>
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