Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

IF 1.6 4区 医学 Q3 CLINICAL NEUROLOGY
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-07-18 DOI:10.1007/s10048-024-00767-7
Mark Ainsley Colijn, Stephanie Vrijsen, Ping Yee Billie Au, Rania Abou El Asrar, Marine Houdou, Chris Van den Haute, Justyna Sarna, Greg Montgomery, Peter Vangheluwe
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引用次数: 0

Abstract

Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-Rakeb syndrome. In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in affected individuals, including supranuclear gaze palsy and cognitive decline. Although psychotic symptoms are often reported, response to antipsychotic therapy is not well described in previous case reports/series. As such, we describe treatment response in an individual with Kufor-Rakeb syndrome-associated psychosis. His disease was caused by a homozygous novel loss-of-function ATP13A2 variant (NM_022089.4, c.1970_1975del) that was characterized in this study. Our patient exhibited a good response to quetiapine monotherapy, which he has so far tolerated well. We also reviewed the literature and summarized all previous descriptions of antipsychotic treatment response. Although its use has infrequently been described in Kufor-Rakeb syndrome, quetiapine is commonly used in other degenerative parkinsonian disorders, given its lower propensity to cause extrapyramidal symptoms. As such, quetiapine should be considered in the treatment of Kufor-Rakeb syndrome-associated psychosis when antipsychotic therapy is deemed necessary.

Abstract Image

Kufor-Rakeb 综合征相关性精神病:一种新型功能缺失 ATP13A2 变异和对抗抑郁治疗的反应。
ATP13A2的双叶(常染色体隐性)致病变体会导致一种青少年发病型帕金森病,被称为Kufor-Rakeb综合征。除运动症状外,患者还可能出现其他各种神经和精神症状,包括核上性凝视麻痹和认知能力下降。虽然精神病症状经常被报道,但在以往的病例报告/系列中,对抗精神病治疗的反应并没有很好的描述。因此,我们描述了一名库福-拉克布综合征相关性精神病患者的治疗反应。他的疾病是由同卵双生的新型 ATP13A2 功能缺失变体(NM_022089.4,c.1970_1975del)引起的,本研究对该变体进行了定性。我们的患者对奎硫平单药治疗反应良好,迄今为止耐受性良好。我们还查阅了文献,总结了以往所有关于抗精神病药物治疗反应的描述。虽然喹硫平在库福尔-雷克巴综合征中的应用并不多见,但由于其较少引起锥体外系症状,因此常用于其他退行性帕金森病。因此,在认为有必要使用抗精神病药物治疗时,应考虑将喹硫平用于治疗库佛-雷克布综合征相关性精神病。
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来源期刊
Neurogenetics
Neurogenetics 医学-临床神经学
CiteScore
3.90
自引率
0.00%
发文量
24
审稿时长
6 months
期刊介绍: Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
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