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000141598 1001_ $$0P:(DE-2719)2811827$$aRattay, Tim W$$b0$$eFirst author$$udzne
000141598 245__ $$aNon-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).
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000141598 520__ $$aHereditary spastic paraplegias (HSP) share as cardinal feature progressive spastic gait disorder. SPG4 accounts for about 25% of cases and is caused by mutations in the SPAST gene. Although HSP is an upper motor neuron disease, the relevance of non-motor symptoms is increasingly recognized because of the potential response to treatment. Our study sets out to evaluate non-motor symptoms and their relevance with regard to health-related quality of life. In 118 genetically confirmed SPG4 cases and age- and gender-matched controls, validated questionnaires were used to evaluate fatigue, depression, pain, and restless legs syndrome. In addition, self-reported medical information was collected concerning comorbidities and bladder, bowel, and sexual dysfunction. In a sub-study, cognition was evaluated using the CANTAB® test-battery and the Montreal Cognitive Assessment in 26 SPG4 patients. We found depression and pain to be significantly increased. The frequency of restless legs syndrome varied largely depending on defining criteria. There were no significant deficits in cognition as examined by CANTAB® despite a significant increase in self-reported memory impairment in SPG4 patients. Bladder, sexual, and defecation problems were frequent and seemed to be underrecognized in current treatment strategies. All identified non-motor symptoms correlated with health-related quality of life, which was reduced in SPG4 compared to controls. We recommend that clinicians regularly screen for depression, pain, and fatigue and ask for bladder, sexual, and defecation problems to recognize and treat non-motor symptoms accordingly to improve quality of life in patients with SPG4.
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000141598 650_2 $$2MeSH$$aAdult
000141598 650_2 $$2MeSH$$aAged
000141598 650_2 $$2MeSH$$aCognition Disorders: etiology
000141598 650_2 $$2MeSH$$aCognition Disorders: psychology
000141598 650_2 $$2MeSH$$aDepression: etiology
000141598 650_2 $$2MeSH$$aDepression: psychology
000141598 650_2 $$2MeSH$$aFatigue: etiology
000141598 650_2 $$2MeSH$$aFatigue: psychology
000141598 650_2 $$2MeSH$$aFecal Incontinence: etiology
000141598 650_2 $$2MeSH$$aFemale
000141598 650_2 $$2MeSH$$aHumans
000141598 650_2 $$2MeSH$$aMale
000141598 650_2 $$2MeSH$$aMemory Disorders: etiology
000141598 650_2 $$2MeSH$$aMental Status and Dementia Tests
000141598 650_2 $$2MeSH$$aMiddle Aged
000141598 650_2 $$2MeSH$$aPain: etiology
000141598 650_2 $$2MeSH$$aParaplegia: physiopathology
000141598 650_2 $$2MeSH$$aParaplegia: psychology
000141598 650_2 $$2MeSH$$aParaplegia: therapy
000141598 650_2 $$2MeSH$$aQuality of Life
000141598 650_2 $$2MeSH$$aRestless Legs Syndrome: etiology
000141598 650_2 $$2MeSH$$aRestless Legs Syndrome: psychology
000141598 650_2 $$2MeSH$$aSelf Report
000141598 650_2 $$2MeSH$$aSexual Dysfunction, Physiological: etiology
000141598 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: physiopathology
000141598 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: psychology
000141598 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: therapy
000141598 650_2 $$2MeSH$$aUrinary Bladder Diseases: etiology
000141598 650_2 $$2MeSH$$aYoung Adult
000141598 7001_ $$aBoldt, Andreas$$b1
000141598 7001_ $$aVölker, Maximilian$$b2
000141598 7001_ $$0P:(DE-2719)2814026$$aWiethoff, Sarah$$b3$$udzne
000141598 7001_ $$0P:(DE-2719)2811940$$aHengel, Holger$$b4$$udzne
000141598 7001_ $$0P:(DE-2719)2812018$$aSchüle, Rebecca$$b5$$udzne
000141598 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b6$$eLast author$$udzne
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