Dergi makalesi Açık Erişim
Kuzma-Kozakiewicz, Magdalena; Andersen, Peter M.; Elahi, Elahe; Alavi, Afagh; Sapp, Peter C.; Morita, Mitsuya; Zekanowski, Cezary; Berdynski, Mariusz
<?xml version='1.0' encoding='UTF-8'?> <record xmlns="http://www.loc.gov/MARC21/slim"> <leader>00000nam##2200000uu#4500</leader> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Andersen, Peter M.</subfield> <subfield code="u">Umea Univ, Inst Clin Sci, Neurosci, Umea, Sweden</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Elahi, Elahe</subfield> <subfield code="u">Univ Tehran, Fac Sci, Tehran, Iran</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Alavi, Afagh</subfield> <subfield code="u">Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Sapp, Peter C.</subfield> <subfield code="u">Univ Massachusetts, Sch Med, Dept Neurol, Worcester, MA USA</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Morita, Mitsuya</subfield> <subfield code="u">Jichi Med Univ, Div Neurol, Dept Internal Med, Shomotsuke, Japan</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Zekanowski, Cezary</subfield> <subfield code="u">Polish Acad Sci, Mossakowski Med Res Ctr, Dept Neurodegenerat Disorders, Lab Neurogenet, 5 Pawinskiego St, PL-02106 Warsaw, Poland</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Berdynski, Mariusz</subfield> </datafield> <datafield tag="909" ind1="C" ind2="4"> <subfield code="p">AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION</subfield> </datafield> <datafield tag="980" ind1=" " ind2=" "> <subfield code="a">user-tubitak-destekli-proje-yayinlari</subfield> </datafield> <datafield tag="540" ind1=" " ind2=" "> <subfield code="a">Creative Commons Attribution</subfield> <subfield code="u">http://www.opendefinition.org/licenses/cc-by</subfield> </datafield> <datafield tag="024" ind1=" " ind2=" "> <subfield code="a">10.1080/21678421.2020.1803359</subfield> <subfield code="2">doi</subfield> </datafield> <datafield tag="245" ind1=" " ind2=" "> <subfield code="a">Putative founder effect in the Polish, Iranian and United States populations for the L144SSOD1mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis</subfield> </datafield> <datafield tag="100" ind1=" " ind2=" "> <subfield code="a">Kuzma-Kozakiewicz, Magdalena</subfield> </datafield> <datafield tag="909" ind1="C" ind2="O"> <subfield code="o">oai:zenodo.org:5357</subfield> <subfield code="p">user-tubitak-destekli-proje-yayinlari</subfield> </datafield> <datafield tag="650" ind1="1" ind2="7"> <subfield code="2">opendefinition.org</subfield> <subfield code="a">cc-by</subfield> </datafield> <datafield tag="260" ind1=" " ind2=" "> <subfield code="c">2020-01-01</subfield> </datafield> <datafield tag="856" ind1="4" ind2=" "> <subfield code="u">https://aperta.ulakbim.gov.trrecord/5357/files/bib-100f1a58-3a71-4f63-a8b7-090662133ab9.txt</subfield> <subfield code="z">md5:439c6b3ac836145935076c4b050ca165</subfield> <subfield code="s">360</subfield> </datafield> <datafield tag="542" ind1=" " ind2=" "> <subfield code="l">open</subfield> </datafield> <controlfield tag="005">20210315061103.0</controlfield> <controlfield tag="001">5357</controlfield> <datafield tag="980" ind1=" " ind2=" "> <subfield code="a">publication</subfield> <subfield code="b">article</subfield> </datafield> <datafield tag="520" ind1=" " ind2=" "> <subfield code="a">Mutations inSOD1cause approximately 12-25% of familial ALS and approximate to 2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS pedigrees with SOD1 L144S mutation have been reported worldwide. The aim of the study was to establish the origin of SOD1 L144S mutation in geographically distinct populations. The clinical presentation of the Polish patients was compared with those from the previously reported populations (26 ever-reported patients). Clinically, L144S mutation is associated with both sporadic and familial ALS of relatively slow uniform course, a prevalent onset in the lower limbs, either classic or PMA presentation and a long survival time. Like in the case of other previously described SOD1 mutations, there was an intra-familial heterogeneity and reduced penetrance for ALS was observed. We propose that the L144S SOD1 mutation in the three studied populations has a common founder most likely of Polish origin.</subfield> </datafield> </record>
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