C19orf12 gene mutation with neuropsychiatric symptoms: a case report.

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Neurocase Pub Date : 2024-08-01 Epub Date: 2024-11-10 DOI:10.1080/13554794.2024.2426822

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

引用次数: 0

Abstract

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 experienced depressive complaints before movement disorders, followed by cognitive deficits and psychotic symptoms as the disease progressed. The patient's response to quetiapine treatment is crucial for managing neuropsychiatric symptoms. This case could contribute to the literature on presentation, differential diagnosis, and management of neuropsychiatric symptoms in rare NBIA patients.

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伴有神经精神症状的 C19orf12 基因突变：病例报告。

脑铁积聚性神经变性（NBIA）是一种遗传性疾病，其特征是基底节铁积聚。患者可能出现行为异常、痴呆、运动障碍和神经精神症状，如情绪不稳、抑郁、焦虑、幻觉、冲动、强迫和多动。在本病例中，一名 46 岁的男性患者因 C19orf12 基因突变，在出现运动障碍之前曾有抑郁的主诉，随后随着病情的发展出现了认知障碍和精神症状。患者对奎硫平治疗的反应对于控制神经精神症状至关重要。本病例有助于丰富有关罕见 NBIA 患者神经精神症状的表现、鉴别诊断和处理的文献。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.