<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462016000300196</article-id>
<article-id pub-id-type="doi">10.1016/j.bmhimx.2016.02.005</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Presentación atípica de la enfermedad de Alexander infantil sin macrocefalia]]></article-title>
<article-title xml:lang="en"><![CDATA[An atypical presentation of Infantile Alexander disease lacking macrocephaly]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Esmer]]></surname>
<given-names><![CDATA[Carmen]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Villegas-Aguilera]]></surname>
<given-names><![CDATA[Miguel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales-Ibarra]]></surname>
<given-names><![CDATA[Juan José]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bravo-Oro]]></surname>
<given-names><![CDATA[Antonio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="A01">
<institution><![CDATA[,Hospital Central Dr. Ignacio Morones Prieto Departamento de Neurogenética ]]></institution>
<addr-line><![CDATA[San Luis Potosí San Luis Potosí]]></addr-line>
<country>México</country>
</aff>
<aff id="A02">
<institution><![CDATA[,Hospital Central Dr. Ignacio Morones Prieto Departamento de Neuropediatría ]]></institution>
<addr-line><![CDATA[San Luis Potosí San Luis Potosí]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2016</year>
</pub-date>
<volume>73</volume>
<numero>3</numero>
<fpage>196</fpage>
<lpage>201</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462016000300196&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462016000300196&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462016000300196&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción: La enfermedad de Alexander consiste en una forma de leucodistrofia poco frecuente que afecta principalmente a los astrocitos; tiene un patrón de herencia autosómica recesiva y es causada por mutaciones en el gen GFAP, localizado en el cromosoma 17q21. Puede presentarse a cualquier edad y la forma infantil se caracteriza por macrocefalia, crisis convulsivas, retraso motor y cognitivo grave y espasticidad o ataxia progresivas.  Caso clínico: Paciente de sexo femenino de 8 meses evaluada por retraso psicomotor y crisis convulsivas motoras focales no provocadas. En la exploración física, con perímetro cefálico normal, respuesta motora incrementada ante estímulos táctiles y al ruido, signos piramidales y ausencia de visceromegalias. Se observó hipodensidad generalizada de la sustancia blanca en la resonancia magnética y punción lumbar con hiperproteinorraquia. Se descartó enfermedad de Krabbe mediante ensayo enzimático y secuenciación del gen GALC. En la reevaluación del caso, las alteraciones en la neuroimagen hicieron sospechar de enfermedad de Alexander, y la secuenciación del gen GFAP reportó una mutación en el exón 4 c.716G &gt; A, lo que ocasionó un cambio de arginina por histidina en la posición 239 de la proteína (p.Arg239His).  Conclusiones: Los signos radiológicos en la resonancia fueron determinantes para el diagnóstico, que posteriormente se confirmó con estudio molecular. Es importante considerar que ciertas mutaciones no se asocian con macrocefalia, lo cual puede ocasionar retraso en el diagnóstico.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Background: Alexander disease is a rare form of leukodystrophy that involves mainly astrocytes; it is inherited in an autosomal recessive manner and occurs by mutations in the GFAP gene, located on chromosome 17q21. It can occur at any age and its infantile form is characterized by macrocephaly, seizures, severe motor and cognitive delay, and progressive spasticity or ataxia.  Case report: An 8-month-old female was evaluated with a history of neurodevelopmental delay and unprovoked focal motor seizures. Physical examination showed normal head circumference, increased motor responses to tactile and noise stimuli, pyramidal signs and no visceromegalies. Widespread hypodense white matter was found on magnetic resonance and lumbar puncture showed hyperproteinorrachia. Krabbe disease was ruled out by enzymatic assay and gene sequencing of GALC. In the reassessment of the case, abnormalities in neuroimaging lead to suspicion of Alexander disease, and GFAP gene sequencing reported a pathogenic mutation in exon 4 c.716G &gt; A, which caused a change of arginine to histidine at position 239 of the protein (p.Arg239His).  Conclusions: The radiographic signs observed in the resonance were decisive for the diagnosis, later confirmed by molecular study. It is important to consider that certain mutations are not associated with macrocephaly, which may cause delay in diagnosis.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Enfermedad neurodegenerativa]]></kwd>
<kwd lng="es"><![CDATA[Leucodristrofia]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad de Alexander]]></kwd>
<kwd lng="es"><![CDATA[Resonancia magnética]]></kwd>
<kwd lng="es"><![CDATA[Gen GFAP]]></kwd>
<kwd lng="en"><![CDATA[Neurodegenerative disorder]]></kwd>
<kwd lng="en"><![CDATA[Leucodystrophy]]></kwd>
<kwd lng="en"><![CDATA[Alexander disease]]></kwd>
<kwd lng="en"><![CDATA[Magnetic resonance]]></kwd>
<kwd lng="en"><![CDATA[GFAP gene]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Alexander disease]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gordon]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<source><![CDATA[Eur J Paediatr Neurol]]></source>
<year>2003</year>
<volume>7</volume>
<page-range>395-9</page-range></nlm-citation>
</ref>
<ref id="B2">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Brenner]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Johnson]]></surname>
<given-names><![CDATA[AB]]></given-names>
</name>
<name>
<surname><![CDATA[Boespflug-Tanguy]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Rodriguez]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Goldman]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
<name>
<surname><![CDATA[Messing]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<source><![CDATA[Nat Genet]]></source>
<year>2001</year>
<volume>27</volume>
<page-range>117-20</page-range></nlm-citation>
</ref>
<ref id="B3">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Molecular cloning and primary structure of human glial fibrillary acidic protein]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Reeves]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
<name>
<surname><![CDATA[Helman]]></surname>
<given-names><![CDATA[LJ]]></given-names>
</name>
<name>
<surname><![CDATA[Allison]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Israel]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
</person-group>
<source><![CDATA[Proc Nat Acad Sci]]></source>
<year>1989</year>
<volume>86</volume>
<page-range>5178-82</page-range></nlm-citation>
</ref>
<ref id="B4">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Glial fibrillary acid protein, an astrocytic-specific marker, maps to human chromosome 17]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Brownell]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[AS]]></given-names>
</name>
<name>
<surname><![CDATA[Pekar]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Pravtcheva]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Ruddle]]></surname>
<given-names><![CDATA[FH]]></given-names>
</name>
<name>
<surname><![CDATA[Bayney]]></surname>
<given-names><![CDATA[RM]]></given-names>
</name>
</person-group>
<source><![CDATA[Genomics]]></source>
<year>1991</year>
<volume>10</volume>
<page-range>1087-9</page-range></nlm-citation>
</ref>
<ref id="B5">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[GFAP mutations, age at onset, and clinical subtypes in Alexander disease]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Prust]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Morizono]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Messing]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Brenner]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gordon]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<source><![CDATA[Neurology]]></source>
<year>2011</year>
<volume>77</volume>
<page-range>1287-94</page-range></nlm-citation>
</ref>
<ref id="B6">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Alexander disease classification revisited and isolation of a neonatal form]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Springer]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Erlewein]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Naegele]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Becker]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Auer]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Grodd]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
</person-group>
<source><![CDATA[Neuropediatrics]]></source>
<year>2000</year>
<volume>31</volume>
<page-range>86-92</page-range></nlm-citation>
</ref>
<ref id="B7">
<nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rodriguez]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Gauthier]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Bertini]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Bugiani]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Brenner]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Infantile Alexander disease spectrum of GFAP mutations and genotype-phenotype correlation]]></article-title>
<collab>N'guyen S</collab>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2001</year>
<volume>69</volume>
<page-range>1134-40</page-range></nlm-citation>
</ref>
<ref id="B8">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Srivastava]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Naidu]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Pagon]]></surname>
<given-names><![CDATA[RA.]]></given-names>
</name>
<name>
<surname><![CDATA[Adam]]></surname>
<given-names><![CDATA[MP.]]></given-names>
</name>
<name>
<surname><![CDATA[Ardinger]]></surname>
<given-names><![CDATA[HH.]]></given-names>
</name>
<name>
<surname><![CDATA[Wallace]]></surname>
<given-names><![CDATA[SE.]]></given-names>
</name>
<name>
<surname><![CDATA[Amemiya]]></surname>
<given-names><![CDATA[A.]]></given-names>
</name>
<name>
<surname><![CDATA[Bean]]></surname>
<given-names><![CDATA[LJH.]]></given-names>
</name>
<name>
<surname><![CDATA[et]]></surname>
<given-names><![CDATA[al]]></given-names>
</name>
</person-group>
<source><![CDATA[Alexander Disease]]></source>
<year></year>
<publisher-name><![CDATA[GeneReviews®]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B9">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Johnson]]></surname>
<given-names><![CDATA[AB]]></given-names>
</name>
<name>
<surname><![CDATA[Salomons]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Goldman]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
<name>
<surname><![CDATA[Naidu]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Quinlan]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<source><![CDATA[Ann Neurol]]></source>
<year>2005</year>
<volume>57</volume>
<page-range>310-26</page-range></nlm-citation>
</ref>
<ref id="B10">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Adult Alexander disease with autosomal dominant transmission a distinct entity caused by mutation in the glial fibrillary acid protein gene]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stumpf]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Masson]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Duquette]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Berthelet]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[McNabb]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Lortie]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<source><![CDATA[Arch Neurol]]></source>
<year>2003</year>
<volume>60</volume>
<page-range>1307-12</page-range></nlm-citation>
</ref>
<ref id="B11">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[The clinical spectrum of late-onset Alexander disease: a systematic literature review]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Balbi]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Salvini]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Fundarò]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Frazzitta]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Maestri]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Mosah]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<source><![CDATA[J Neurol]]></source>
<year>2010</year>
<volume>257</volume>
<page-range>1955-62</page-range></nlm-citation>
</ref>
<ref id="B12">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Neuroimaging and clinical features in type II (late-onset) Alexander disease]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Graff-Radford]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Schwartz]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Gavrilova]]></surname>
<given-names><![CDATA[RH]]></given-names>
</name>
<name>
<surname><![CDATA[Lachance]]></surname>
<given-names><![CDATA[DH]]></given-names>
</name>
<name>
<surname><![CDATA[Kumar]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<source><![CDATA[Neurology]]></source>
<year>2014</year>
<volume>82</volume>
<page-range>49-56</page-range></nlm-citation>
</ref>
<ref id="B13">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Childhood leukodystrophies: a clinical perspective]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kohlschütter]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Eichler]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<source><![CDATA[Expert Rev Neurother]]></source>
<year>2011</year>
<volume>11</volume>
<page-range>1485-96</page-range></nlm-citation>
</ref>
<ref id="B14">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Leukodystrophies: classification, diagnosis, and treatment]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Costello]]></surname>
<given-names><![CDATA[DJ]]></given-names>
</name>
<name>
<surname><![CDATA[Eichler]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
<name>
<surname><![CDATA[Eichler]]></surname>
<given-names><![CDATA[FS]]></given-names>
</name>
</person-group>
<source><![CDATA[Neurologist]]></source>
<year>2009</year>
<volume>15</volume>
<page-range>319-28</page-range></nlm-citation>
</ref>
<ref id="B15">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Imaging manifestations of the leukodystrophies, inherited disorders of white matter]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Prabhu]]></surname>
<given-names><![CDATA[SP]]></given-names>
</name>
</person-group>
<source><![CDATA[Radiol Clin North Am]]></source>
<year>2014</year>
<volume>52</volume>
<page-range>279-319</page-range></nlm-citation>
</ref>
<ref id="B16">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Alexander disease diagnosis with MR imaging]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[van der Knaap]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
<name>
<surname><![CDATA[Naidu]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Breiter]]></surname>
<given-names><![CDATA[SN]]></given-names>
</name>
<name>
<surname><![CDATA[Blaser]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Stroink]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Springer]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<source><![CDATA[AJNR Am J Neuroradiol]]></source>
<year>2001</year>
<volume>22</volume>
<page-range>541-52</page-range></nlm-citation>
</ref>
<ref id="B17">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Alexander disease ventricular garlands and abnormalities of the medulla and spinal cord]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[van der Knaap]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
<name>
<surname><![CDATA[Ramesh]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Schiffmann]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Blaser]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kyllerman]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gholkar]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<source><![CDATA[Neurology]]></source>
<year>2006</year>
<volume>66</volume>
<page-range>494-8</page-range></nlm-citation>
</ref>
<ref id="B18">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Unusual variants of Alexander&amp;apos;s disease]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[van der Knaap]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
<name>
<surname><![CDATA[Salomons]]></surname>
<given-names><![CDATA[GS]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Franzoni]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Gutierrez-Solana]]></surname>
<given-names><![CDATA[LG]]></given-names>
</name>
<name>
<surname><![CDATA[Smit]]></surname>
<given-names><![CDATA[LM]]></given-names>
</name>
</person-group>
<source><![CDATA[Ann Neurol]]></source>
<year>2005</year>
<volume>57</volume>
<page-range>327-38</page-range></nlm-citation>
</ref>
<ref id="B19">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Plectin regulates the organization of glial fibrillary acidic protein in Alexander disease]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tian]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Gregor]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Wiche]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Goldman]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Pathol]]></source>
<year>2006</year>
<volume>168</volume>
<page-range>888-97</page-range></nlm-citation>
</ref>
<ref id="B20">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander&amp;apos;s disease brain]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Iwaki]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Kume-Iwaki]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Liem]]></surname>
<given-names><![CDATA[RK]]></given-names>
</name>
<name>
<surname><![CDATA[Goldman]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
</person-group>
<source><![CDATA[Cell]]></source>
<year>1989</year>
<volume>57</volume>
<page-range>71-8</page-range></nlm-citation>
</ref>
<ref id="B21">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Der Perng]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Su]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Wen]]></surname>
<given-names><![CDATA[SF]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Gibbon]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Prescott]]></surname>
<given-names><![CDATA[AR]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2006</year>
<volume>79</volume>
<page-range>197-213</page-range></nlm-citation>
</ref>
<ref id="B22">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tian]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Hagemann]]></surname>
<given-names><![CDATA[TL]]></given-names>
</name>
<name>
<surname><![CDATA[Sosunov]]></surname>
<given-names><![CDATA[AA]]></given-names>
</name>
<name>
<surname><![CDATA[Messing]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[McKhann]]></surname>
<given-names><![CDATA[GM]]></given-names>
</name>
</person-group>
<source><![CDATA[J Neuropathol Exp Neurol]]></source>
<year>2010</year>
<volume>69</volume>
<page-range>335-45</page-range></nlm-citation>
</ref>
<ref id="B23">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Infantile onset alexander disease with normal head circumference: a genetically proven case report]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Goyal]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Mehndiratta]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Faruq]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Dwivedi]]></surname>
<given-names><![CDATA[MK]]></given-names>
</name>
<name>
<surname><![CDATA[Kapoor]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<source><![CDATA[J Clin Diagn Res]]></source>
<year>2014</year>
<volume>8</volume>
<page-range>PD03-4</page-range></nlm-citation>
</ref>
<ref id="B24">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Caroli]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Biancheri]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Seri]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Rossi]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Pessagno]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Bugiani]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<source><![CDATA[Clin Genet]]></source>
<year>2007</year>
<volume>72</volume>
<page-range>427-33</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
