Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation.

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2022-10-01 Epub Date: 2022-09-17 DOI:10.1007/s10048-022-00699-0

Miguel Tábuas-Pereira, Rita Guerreiro, Célia Kun-Rodrigues, Maria Rosário Almeida, José Brás, Isabel Santana

引用次数: 2

Abstract

Dementia with Lewy bodies is a neurodegenerative disease, sharing features with Parkinson's and Alzheimer's diseases. We report a case of a patient dementia with Lewy bodies carrying combined PSEN1 and ATP7B mutations. A man developed dementia with Lewy bodies starting at the age of 60 years. CSF biomarkers were of Alzheimer's disease and DaTSCAN was abnormal. Whole-exome sequencing revealed a heterozygous p.Ile408Thr PSEN1 variant and a homozygous p.Arg616Trp ATP7B variant. This case reinstates the need of considering ATP7B mutations when evaluating a patient with parkinsonism and supports p.Ile408Thr as a pathogenic PSEN1 variant.

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全外显子组测序揭示PSEN1和ATP7B联合变异可能是早发性路易体痴呆的原因：一项基因型-表型相关性的病例研究。

路易体痴呆症是一种神经退行性疾病，与帕金森氏症和阿尔茨海默氏症有共同特点。我们报告了一例路易体携带PSEN1和ATP7B联合突变的痴呆患者。一名男子从60岁开始患上路易体痴呆症。CSF生物标志物为阿尔茨海默病，DaTSCAN异常。全外显子组测序显示一个杂合的p.Ile408Thr PSEN1变体和一个纯合的p.Arg616Trp ATP7B变体。该病例恢复了在评估帕金森病患者时考虑ATP7B突变的必要性，并支持p.Ile408Thr作为致病性PSEN1变体。

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

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

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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