<?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>2524-177X</journal-id>
<journal-title><![CDATA[Revista médica del Hospital General de México]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. med. Hosp. Gen. Méx.]]></abbrev-journal-title>
<issn>2524-177X</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Médica del Hospital General de México A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2524-177X2023000400151</article-id>
<article-id pub-id-type="doi">10.24875/hgmx.22000068</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Amyotrophic Lateral Sclerosis as a phenotypic form of the SPG11 gene mutation spectrum. A case report]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[León-Castillo]]></surname>
<given-names><![CDATA[Daniela A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bertado-Cortés]]></surname>
<given-names><![CDATA[Brenda]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Gutiérrez-Guzmán]]></surname>
<given-names><![CDATA[Erick F.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Venegas-Valles]]></surname>
<given-names><![CDATA[Gustavo A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ruvalcaba-Sánchez]]></surname>
<given-names><![CDATA[Nallely]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI Hospital de Especialidades "Dr. Bernardo Sepúlveda Gutiérrez"]]></institution>
<addr-line><![CDATA[ Mexico City]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto de Seguridad Social para Trabajadores del Estado Centro Médico Nacional 20 de Noviembre Neurology Service]]></institution>
<addr-line><![CDATA[ Mexico City]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2023</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2023</year>
</pub-date>
<volume>86</volume>
<numero>4</numero>
<fpage>151</fpage>
<lpage>155</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2524-177X2023000400151&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2524-177X2023000400151&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2524-177X2023000400151&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects to both the upper and lower motor neuron. We reported a rare presentation of ALS with SPG11 mutation with heterozygous state, contrary to the classic autosomal recessive form of ALS associated with this mutation, thus documenting the third case found with probable association with said pattern of inheritance, and the first of related ALS a mutation of SPG11 in Mexico. This allows us to reaffirm the genetic heterogeneity of ALS and the prognostic importance of the determination of such rare mutations with less lethal course to the classical form.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Amyotrophic lateral sclerosis]]></kwd>
<kwd lng="en"><![CDATA[SPG11]]></kwd>
<kwd lng="en"><![CDATA[Motor neuron disease]]></kwd>
<kwd lng="en"><![CDATA[Mutation]]></kwd>
<kwd lng="en"><![CDATA[Gene]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Picher-Martel]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Brunet]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Dupré]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Chrestian]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis:A Case Report and Review of the Literature]]></article-title>
<source><![CDATA[Journal of Child Neurology]]></source>
<year>2020</year>
<volume>35</volume>
<numero>8</numero>
<issue>8</issue>
<page-range>556-62</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wong]]></surname>
<given-names><![CDATA[C-O]]></given-names>
</name>
<name>
<surname><![CDATA[Venkatachalam]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Motor neurons from ALS patients with mutations in C9ORF72 and SOD1 exhibit distinct transcriptional landscapes]]></article-title>
<source><![CDATA[Human Molecular Genetics]]></source>
<year>2019</year>
<volume>28</volume>
<numero>16</numero>
<issue>16</issue>
<page-range>2799-810</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Anheim]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Lagier-Tourenne]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Stevanin]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Fleury]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Durr]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Namer]]></surname>
<given-names><![CDATA[IJ]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[SPG11 spastic paraplegia]]></article-title>
<source><![CDATA[Journal of Neurology]]></source>
<year>2009</year>
<volume>256</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>104-8</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kacem]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Sghaier]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Bougatef]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Nasri]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Gargouri]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ajroud-Driss]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Epidemiological and clinical features of amyotrophic lateral sclerosis in a Tunisian cohort]]></article-title>
<source><![CDATA[Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration]]></source>
<year>2019</year>
<page-range>1-9</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Quinn]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Elman]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases]]></article-title>
<source><![CDATA[CONTINUUM:Lifelong Learning in Neurology]]></source>
<year>2020</year>
<volume>26</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>1323-47</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Edgar]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ellis]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Abdul-Aziz]]></surname>
<given-names><![CDATA[NA]]></given-names>
</name>
<name>
<surname><![CDATA[Goh]]></surname>
<given-names><![CDATA[K-J]]></given-names>
</name>
<name>
<surname><![CDATA[Shahrizaila]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Kennerson]]></surname>
<given-names><![CDATA[ML]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutation analysis of SOD1, C9orf72, TARDBP and FUS genes in ethnically-diverse Malaysian patients with amyotrophic lateral sclerosis (ALS)]]></article-title>
<source><![CDATA[Neurobiology of Aging]]></source>
<year>2021</year>
<volume>108</volume>
<page-range>200-6</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lin]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Huang]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Xie]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Zheng]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Yao]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The distinct manifestation of young-onset amyotrophic lateral sclerosis in China]]></article-title>
<source><![CDATA[Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration]]></source>
<year>2020</year>
<volume>22</volume>
<numero>1-2</numero>
<issue>1-2</issue>
<page-range>30-7</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Salinas]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Proukakis]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Crosby]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Warner]]></surname>
<given-names><![CDATA[TT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hereditary spastic paraplegia:clinical features and pathogenetic mechanisms]]></article-title>
<source><![CDATA[The Lancet Neurology]]></source>
<year>2008</year>
<volume>7</volume>
<numero>12</numero>
<issue>12</issue>
<page-range>1127-38</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Orlacchio]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Babalini]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Borreca]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Patrono]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Massa]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Basaran]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis]]></article-title>
<source><![CDATA[Brain]]></source>
<year>2010</year>
<volume>133</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>591-8</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kenna]]></surname>
<given-names><![CDATA[KP]]></given-names>
</name>
<name>
<surname><![CDATA[McLaughlin]]></surname>
<given-names><![CDATA[RL]]></given-names>
</name>
<name>
<surname><![CDATA[Byrne]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Elamin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Heverin]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kenny]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing]]></article-title>
<source><![CDATA[Journal of Medical Genetics]]></source>
<year>2013</year>
<volume>50</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>776-83</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stevanin]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Azzedine]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Denora]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Boukhris]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Tazir]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Lossos]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration]]></article-title>
<source><![CDATA[Brain]]></source>
<year>2007</year>
<volume>131</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>772-84</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[da Graça]]></surname>
<given-names><![CDATA[FF]]></given-names>
</name>
<name>
<surname><![CDATA[de Rezende]]></surname>
<given-names><![CDATA[TJR]]></given-names>
</name>
<name>
<surname><![CDATA[Vasconcellos]]></surname>
<given-names><![CDATA[LFR]]></given-names>
</name>
<name>
<surname><![CDATA[Pedroso]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Barsottini]]></surname>
<given-names><![CDATA[OGP]]></given-names>
</name>
<name>
<surname><![CDATA[França]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Neuroimaging in Hereditary Spastic Paraplegias:Current Use and Future Perspectives]]></article-title>
<source><![CDATA[Frontiers in Neurology]]></source>
<year>2019</year>
<volume>9</volume>
</nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Aga]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Kumar]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Gupta]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Kohli]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Juvenile amyotrophic lateral sclerosis:Classical wine glass sign on magnetic resonance imaging]]></article-title>
<source><![CDATA[Journal of Pediatric Neurosciences]]></source>
<year>2016</year>
<volume>11</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>56</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
