Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study

IF 4.5 2区 医学 Q1 CLINICAL NEUROLOGY
Pauline Lallemant-Dudek, Marine Guillaud-Bataille, Claire Hentzen, Charles Joussain, Bertrand Pichon, Gilberte Robain, Rebecca Haddad, Giulia Coarelli, Anna Heinzmann, Pierre Denys, Gérard Amarenco, Alexandra Durr
{"title":"Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study","authors":"Pauline Lallemant-Dudek,&nbsp;Marine Guillaud-Bataille,&nbsp;Claire Hentzen,&nbsp;Charles Joussain,&nbsp;Bertrand Pichon,&nbsp;Gilberte Robain,&nbsp;Rebecca Haddad,&nbsp;Giulia Coarelli,&nbsp;Anna Heinzmann,&nbsp;Pierre Denys,&nbsp;Gérard Amarenco,&nbsp;Alexandra Durr","doi":"10.1111/ene.70003","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background</h3>\n \n <p>The aim of this study was to characterize hereditary spastic paraplegias (HSP) patients' urodynamic profiles and development of bladder symptoms.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>This is a multicentric retrospective study which included patients presenting with bladder disorders. We reviewed medical and urodynamic records in individuals with HSP and recorded age at onset of gait and bladder disorders, disability stage at the time of urodynamic assessment.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>We included 122 participants. They were mostly men (<i>n</i> = 74) with a median age at interview of 54.6 ± 13.0 [25–76] years. The underlying genetic cause was identified in 70% of participants, with 54 heterozygous mutations in <i>SPAST,</i> followed by 7 <i>SPG11</i> and 6 <i>SPG7</i>. The age at onset of motor disorder was significantly younger than for the beginning of bladder dysfunction (49.3 vs. 29.7 years-old, <i>p</i> &lt; 0.001). Detrusor overactivity was present in most participants (72.1%), followed by detrusor-sphincter-dyssynergia (65.3%). Similar proportions were present in the <i>SPAST</i> group as well as the non-<i>SPAST</i> group. The <i>SPAST</i> group developed urinary symptoms later than the non-SPAST group as compared to the age at onset of spasticity (53.8 ± 11.3 and 44.1 ± 13.2 for the <i>SPAST</i> group vs. 44.1 ± 13.2 and 25.5 ± 17.3 for the non-SPAST group).</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>We have shown that the most common urodynamic pattern in HSP is detrusor overactivity associated with detrusor-sphincter dyssynergia, as would be expected for upper motor neuron lesions. We assessed the temporal window of onset, showing that urinary disorders are secondary to spastic gait in HSP and particularly frequent when walking capability deteriorates.</p>\n </section>\n </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5000,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ene.70003","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Neurology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/ene.70003","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Background

The aim of this study was to characterize hereditary spastic paraplegias (HSP) patients' urodynamic profiles and development of bladder symptoms.

Methods

This is a multicentric retrospective study which included patients presenting with bladder disorders. We reviewed medical and urodynamic records in individuals with HSP and recorded age at onset of gait and bladder disorders, disability stage at the time of urodynamic assessment.

Results

We included 122 participants. They were mostly men (n = 74) with a median age at interview of 54.6 ± 13.0 [25–76] years. The underlying genetic cause was identified in 70% of participants, with 54 heterozygous mutations in SPAST, followed by 7 SPG11 and 6 SPG7. The age at onset of motor disorder was significantly younger than for the beginning of bladder dysfunction (49.3 vs. 29.7 years-old, p < 0.001). Detrusor overactivity was present in most participants (72.1%), followed by detrusor-sphincter-dyssynergia (65.3%). Similar proportions were present in the SPAST group as well as the non-SPAST group. The SPAST group developed urinary symptoms later than the non-SPAST group as compared to the age at onset of spasticity (53.8 ± 11.3 and 44.1 ± 13.2 for the SPAST group vs. 44.1 ± 13.2 and 25.5 ± 17.3 for the non-SPAST group).

Conclusion

We have shown that the most common urodynamic pattern in HSP is detrusor overactivity associated with detrusor-sphincter dyssynergia, as would be expected for upper motor neuron lesions. We assessed the temporal window of onset, showing that urinary disorders are secondary to spastic gait in HSP and particularly frequent when walking capability deteriorates.

Abstract Image

求助全文
约1分钟内获得全文 求助全文
来源期刊
European Journal of Neurology
European Journal of Neurology 医学-临床神经学
CiteScore
9.70
自引率
2.00%
发文量
418
审稿时长
1 months
期刊介绍: The European Journal of Neurology is the official journal of the European Academy of Neurology and covers all areas of clinical and basic research in neurology, including pre-clinical research of immediate translational value for new potential treatments. Emphasis is placed on major diseases of large clinical and socio-economic importance (dementia, stroke, epilepsy, headache, multiple sclerosis, movement disorders, and infectious diseases).
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信