The Diagnostic Evaluation of Patients with Hereditary Ataxia in Children: Thirteen Patients and Comprehensive Approach

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dc.contributor.authorHavalı, Cengiz
dc.contributor.authorKuşku, Zeynep Beyza
dc.contributor.authorAkbaş, Yılmaz
dc.date.accessioned2024-09-19T16:22:10Z
dc.date.available2024-09-19T16:22:10Z
dc.date.issued2021
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractObjective: This study aims to determine genotype-phenotype characteristics that can help diagnose hereditary ataxia, a rare disease.Methods: The findings of clinical, laboratory, electrophysiological, and magnetic resonance imaging of thirteen patients with ataxia in the last five years were reported in this study. Phenotypic expressions in patients with the genetically proved mutation were also reviewed.Results: We report four patients identified with Friedreich’s ataxia (FA) and four patients diagnosed with ataxia-telangiectasia (AT), one patient with spinocerebellar ataxia (SCA) type 42, one patient with Marinesco-Sjögren syndrome (MSS), two patients diagnosed with recently defined BRF 1 gene-related Cerebellofaciodental syndrome and one patient with ataxia-oculomotor apraxia (AOA) type 1. Clinical findings, neuroimaging, alpha-fetoprotein levels and electrophysiological findings were first-step tests in diagnostic evaluation. The diagnosis was defined in 85% of all patients with genetic studies.Conclusion: A systematic investigation is recommended for definitive diagnosis in patients with hereditary ataxia. Age at onset of symptoms, prognosis, hereditary pattern of ataxia and clinical findings leads to choosing the ancillary tests, imaging, and genetic studies. The exome sequencing is not an all-knowing test and may fail to find trinucleotide repeats, large deletion and duplications. Specific genetic studies, including single-gene sequencing, microarray methods, should be kept in mind.en_US
dc.identifier.doi10.17944/mkutfd.919601
dc.identifier.endpage82en_US
dc.identifier.issn2149-3103
dc.identifier.issue43en_US
dc.identifier.startpage77en_US
dc.identifier.trdizinid440095en_US
dc.identifier.urihttps://doi.org/10.17944/mkutfd.919601
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/440095
dc.identifier.urihttps://hdl.handle.net/20.500.12483/15661
dc.identifier.volume12en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofMustafa Kemal Üniversitesi Tıp Dergisien_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCerebellumen_US
dc.subjectAtaxiaen_US
dc.subjectAutosomal recessiveen_US
dc.subjectChildrenen_US
dc.titleThe Diagnostic Evaluation of Patients with Hereditary Ataxia in Children: Thirteen Patients and Comprehensive Approachen_US
dc.typeArticleen_US

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