Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/46839
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dc.contributor.authorOlmez, Akgun-
dc.contributor.authorCetin, Gokhan Ozan-
dc.contributor.authorKaraer, Kadri-
dc.date.accessioned2023-01-09T21:16:25Z-
dc.date.available2023-01-09T21:16:25Z-
dc.date.issued2022-
dc.identifier.issn1552-4825-
dc.identifier.issn1552-4833-
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.62878-
dc.identifier.urihttps://hdl.handle.net/11499/46839-
dc.description.abstractHereditary spastic paraplegias (HSP) are a group of inherited, neurodegenerative disorders characterized by progressive gait impairment, lower extremity spasticity and increased patellar reflexes. More than 80 types of HSP have been defined to date. In complicated forms, lower limb spasticity and gait impairment is accompanied by an additional neurological finding. Autosomal recessive (AR) HSPs are usually identified in complicated forms and occur more frequently in countries where consanguineous marriage is more widespread. Next generation sequencing techniques, developed in the last decade, have led to the identification of many new types of HSP and reduced the diagnostic odyssey. Whole exome sequencing (WES) can diagnose up to 75% of undiagnosed HSP patients. Targeted genetic analysis with good clinical phenotyping gives the best diagnostic yields for rare diseases. Clinical heterogeneity is prominent in AR complicated HSP. However, some clinical features complicating the disease or magnetic resonance imaging findings, including thin corpus callosum or white matter abnormalities, can help to distinguish some types. AR spastic paraplegia type 64 (SPG64) is a very rare HSP, caused by a mutation in the ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1) gene, first described in 2014. To date only nine patients from five families have been reported. We present two siblings with a novel pathogenic variant in ENTPD1, diagnosed by WES, as the sixth published family. We propose that early onset in childhood, cognitive impairment, dysarthria/anarthria, dystonia and areflexia may be the distinctive features of SPG64 and more clinical evidence from families with pathogenic ENTPD1 variants is warranted.en_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofAmerican Journal Of Medical Genetics Part Aen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectanarthriaen_US
dc.subjectdystoniaen_US
dc.subjectENTPD1en_US
dc.subjecthereditary spastic paraplegiasen_US
dc.subjectSPG64en_US
dc.titleEarly onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegiasen_US
dc.typeArticleen_US
dc.identifier.volume188en_US
dc.identifier.issue9en_US
dc.identifier.startpage2712en_US
dc.identifier.endpage2717en_US
dc.authoridolmez, akgun/0000-0002-6487-2196-
dc.identifier.doi10.1002/ajmg.a.62878-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.authorscopusid6701714820-
dc.authorscopusid14017831000-
dc.authorscopusid23995504600-
dc.identifier.pmid35758610en_US
dc.identifier.scopus2-s2.0-85132741163en_US
dc.identifier.wosWOS:000816706700001en_US
dc.identifier.scopusqualityQ2-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeArticle-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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