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C19orf12 gene mutation with neuropsychiatric symptoms: a case report.

Neurocase - 1 Aug 2024

Yıldırım İrem, Altunç Ali Tarık, Gür Ege, Hacikurteş Gamze, Usta Sağlam Nazife Gamze, Kızıltan Güneş, Turan Şenol

Abstract excerpt

Neurodegeneration with brain iron accumulation (NBIA) is a genetic disorder characterized by iron accumulation in the basal ganglia. Patients may develop behavioral abnormalities, dementia, movement disorders, and neuropsychiatric symptoms such as emotional lability, depression, anxiety, hallucinations, impulsivity, obsessions, and hyperactivity. In this case, a 46-year-old male patient with a C19orf12 mutation...

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PMID: 39523449
DOI: 10.1080/13554794.2024.2426822

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