141598 20240321221002.0 0367-004x ISSN 10.1007/s00415-019-09573-w doi pmid:31646384 pmid 0012-1037 ISSN 0340-5354 ISSN 0939-1517 ISSN 1432-1459 ISSN 1619-800X ISSN 0367-004X ISSN altmetric:100683409 altmetric DZNE-2020-07922 English 610 Rattay, Tim W P:(DE-2719)2811827 0 First author dzne Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4). Berlin 2020 Springer77118 online Crossref Springer Science and Business Media LLC 2019-10-23 print Crossref Springer Science and Business Media LLC 2020-02-01 article DRIVER Output Types/Journal article DataCite Journal Article journal journal PUB:(DE-HGF)16 1709727652_11501 PUB:(DE-HGF) ARTICLE BibTeX JOURNAL_ARTICLE ORCID Journal Article 0 EndNote Hereditary spastic paraplegias (HSP) share as cardinal feature progressive spastic gait disorder. SPG4 accounts for about 25% of cases and is caused by mutations in the SPAST gene. Although HSP is an upper motor neuron disease, the relevance of non-motor symptoms is increasingly recognized because of the potential response to treatment. Our study sets out to evaluate non-motor symptoms and their relevance with regard to health-related quality of life. In 118 genetically confirmed SPG4 cases and age- and gender-matched controls, validated questionnaires were used to evaluate fatigue, depression, pain, and restless legs syndrome. In addition, self-reported medical information was collected concerning comorbidities and bladder, bowel, and sexual dysfunction. In a sub-study, cognition was evaluated using the CANTAB® test-battery and the Montreal Cognitive Assessment in 26 SPG4 patients. We found depression and pain to be significantly increased. The frequency of restless legs syndrome varied largely depending on defining criteria. There were no significant deficits in cognition as examined by CANTAB® despite a significant increase in self-reported memory impairment in SPG4 patients. Bladder, sexual, and defecation problems were frequent and seemed to be underrecognized in current treatment strategies. All identified non-motor symptoms correlated with health-related quality of life, which was reduced in SPG4 compared to controls. We recommend that clinicians regularly screen for depression, pain, and fatigue and ask for bladder, sexual, and defecation problems to recognize and treat non-motor symptoms accordingly to improve quality of life in patients with SPG4. 345 - Population Studies and Genetics (POF3-345) G:(DE-HGF)POF3-345 POF3-345 POF III 0 344 - Clinical and Health Care Research (POF3-344) G:(DE-HGF)POF3-344 POF3-344 POF III 1 2019-10-23 Crossref http://www.springer.com/tdm 2019-10-23 Crossref http://www.springer.com/tdm Dataset connected to CrossRef, PubMed, Adult MeSH Aged MeSH Cognition Disorders: etiology MeSH Cognition Disorders: psychology MeSH Depression: etiology MeSH Depression: psychology MeSH Fatigue: etiology MeSH Fatigue: psychology MeSH Fecal Incontinence: etiology MeSH Female MeSH Humans MeSH Male MeSH Memory Disorders: etiology MeSH Mental Status and Dementia Tests MeSH Middle Aged MeSH Pain: etiology MeSH Paraplegia: physiopathology MeSH Paraplegia: psychology MeSH Paraplegia: therapy MeSH Quality of Life MeSH Restless Legs Syndrome: etiology MeSH Restless Legs Syndrome: psychology MeSH Self Report MeSH Sexual Dysfunction, Physiological: etiology MeSH Spastic Paraplegia, Hereditary: physiopathology MeSH Spastic Paraplegia, Hereditary: psychology MeSH Spastic Paraplegia, Hereditary: therapy MeSH Urinary Bladder Diseases: etiology MeSH Young Adult MeSH Boldt, Andreas 1 Völker, Maximilian 2 Wiethoff, Sarah P:(DE-2719)2814026 3 dzne Hengel, Holger P:(DE-2719)2811940 4 dzne Schüle, Rebecca P:(DE-2719)2812018 5 dzne Schöls, Ludger P:(DE-2719)2810795 6 Last author dzne 10.1007/s00415-019-09573-w Springer Science and Business Media LLC 2019-10-23 2 369-379 journal-article Crossref Journal of Neurology 267 2019 0340-5354 10.1007/s00415-019-09573-w Vol. 267, no. 2, p. 369 - 379 PERI:(DE-600)1421299-7 2 267:2<369 - 379 369-379 Journal of neurology 267 2020 0340-5354 http://pub.dzne.de/record/141598/files/DZNE-2020-07922_Restricted.pdf http://pub.dzne.de/record/141598/files/DZNE-2020-07922_Restricted.pdf?subformat=pdfa pdfa VDB oai:pub.dzne.de:141598 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 0 P:(DE-2719)2811827 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 3 P:(DE-2719)2814026 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 4 P:(DE-2719)2811940 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 5 P:(DE-2719)2812018 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 6 P:(DE-2719)2810795 DE-HGF Gesundheit Erkrankungen des Nervensystems G:(DE-HGF)POF3-340 G:(DE-HGF)POF3-345 G:(DE-HGF)POF3 G:(DE-HGF)POF3-300 G:(DE-HGF)POF Population Studies and Genetics 0 DE-HGF Gesundheit Erkrankungen des Nervensystems G:(DE-HGF)POF3-340 G:(DE-HGF)POF3-344 G:(DE-HGF)POF3 G:(DE-HGF)POF3-300 G:(DE-HGF)POF Clinical and Health Care Research 1 2020 Nationallizenz StatID:(DE-HGF)0420 StatID 2022-11-12 ger DBCoverage StatID:(DE-HGF)0200 StatID SCOPUS 2022-11-12 DBCoverage StatID:(DE-HGF)0300 StatID Medline 2022-11-12 DBCoverage StatID:(DE-HGF)0199 StatID Clarivate Analytics Master Journal List 2022-11-12 DBCoverage StatID:(DE-HGF)0150 StatID Web of Science Core Collection 2022-11-12 DBCoverage StatID:(DE-HGF)1050 StatID BIOSIS Previews 2022-11-12 DBCoverage StatID:(DE-HGF)1030 StatID Current Contents - Life Sciences 2022-11-12 JCR StatID:(DE-HGF)0100 StatID J NEUROL : 2021 2022-11-12 DBCoverage StatID:(DE-HGF)0600 StatID Ebsco Academic Search 2022-11-12 Peer Review StatID:(DE-HGF)0030 StatID ASC 2022-11-12 IF >= 5 StatID:(DE-HGF)9905 StatID J NEUROL : 2021 2022-11-12 I:(DE-2719)1210000 AG Gasser Parkinson Genetics 0 I:(DE-2719)5000024 AG Maetzler Functional Neurogeriatrics 1 I:(DE-2719)5000005 AG Schöls Clinical Neurogenetics 2 journal VDB I:(DE-2719)1210000 I:(DE-2719)5000024 I:(DE-2719)5000005 UNRESTRICTED 10.3389/fneur.2018.00958 -- missing cx lookup -- DM Bis-Brewer 958 - Crossref Bis-Brewer DM, Zuchner S (2018) Perspectives on the genomics of HSP beyond Mendelian inheritance. 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