Wolfram综合征新突变病例的重复自杀行为：从基因到行为的跳跃。

IF 1 Q4 NEUROSCIENCES Basic and Clinical Neuroscience Pub Date : 2022-11-01 DOI:10.32598/bcn.2021.910.3

Fatemeh Sadat Mirfazeli, Fatemeh Mohebi, Amin Jahanbakhshi, Omid Aryani, Mostafa Almasi-Dooghaee

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引用次数: 0

摘要

Wolfram综合征（WS）是一种罕见的常染色体隐性神经退行性疾病，症状多变，包括神经精神表现。据报道，一名26岁的男子有典型的WS症状和反复的精神病住院治疗，并至少有16次自杀企图。遗传学研究证实了WFS1基因上一个新的纯合终止密码子突变。这种特殊类型的突变可能与WS患者的重复自杀行为有关。心理支持应该是WS患者的常规做法。

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Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior.

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous stop-codon mutation on the WFS1 gene. This special type of mutation may be related to repetitive suicidal behaviors in this case of WS. Psychological support should be a routine practice in patients with WS.

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来源期刊

Basic and Clinical Neuroscience NEUROSCIENCES-

CiteScore

2.60

自引率

0.00%

发文量

审稿时长

4 weeks

期刊介绍： BCN is an international multidisciplinary journal that publishes editorials, original full-length research articles, short communications, reviews, methodological papers, commentaries, perspectives and “news and reports” in the broad fields of developmental, molecular, cellular, system, computational, behavioral, cognitive, and clinical neuroscience. No area in the neural related sciences is excluded from consideration, although priority is given to studies that provide applied insights into the functioning of the nervous system. BCN aims to advance our understanding of organization and function of the nervous system in health and disease, thereby improving the diagnosis and treatment of neural-related disorders. Manuscripts submitted to BCN should describe novel results generated by experiments that were guided by clearly defined aims or hypotheses. BCN aims to provide serious ties in interdisciplinary communication, accessibility to a broad readership inside Iran and the region and also in all other international academic sites, effective peer review process, and independence from all possible non-scientific interests. BCN also tries to empower national, regional and international collaborative networks in the field of neuroscience in Iran, Middle East, Central Asia and North Africa and to be the voice of the Iranian and regional neuroscience community in the world of neuroscientists. In this way, the journal encourages submission of editorials, review papers, commentaries, methodological notes and perspectives that address this scope.