Home > Publications Database > Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4). > print

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005     20240321221002.0
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100 1 _ |a Rattay, Tim W
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245 _ _ |a Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).
260 _ _ |a Berlin
|c 2020
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264 _ 1 |3 online
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|c 2019-10-23
264 _ 1 |3 print
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|b Springer Science and Business Media LLC
|c 2020-02-01
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520 _ _ |a 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.
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650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Aged
|2 MeSH
650 _ 2 |a Cognition Disorders: etiology
|2 MeSH
650 _ 2 |a Cognition Disorders: psychology
|2 MeSH
650 _ 2 |a Depression: etiology
|2 MeSH
650 _ 2 |a Depression: psychology
|2 MeSH
650 _ 2 |a Fatigue: etiology
|2 MeSH
650 _ 2 |a Fatigue: psychology
|2 MeSH
650 _ 2 |a Fecal Incontinence: etiology
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Memory Disorders: etiology
|2 MeSH
650 _ 2 |a Mental Status and Dementia Tests
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650 _ 2 |a Middle Aged
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650 _ 2 |a Pain: etiology
|2 MeSH
650 _ 2 |a Paraplegia: physiopathology
|2 MeSH
650 _ 2 |a Paraplegia: psychology
|2 MeSH
650 _ 2 |a Paraplegia: therapy
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650 _ 2 |a Quality of Life
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650 _ 2 |a Restless Legs Syndrome: etiology
|2 MeSH
650 _ 2 |a Restless Legs Syndrome: psychology
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650 _ 2 |a Self Report
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650 _ 2 |a Sexual Dysfunction, Physiological: etiology
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650 _ 2 |a Spastic Paraplegia, Hereditary: physiopathology
|2 MeSH
650 _ 2 |a Spastic Paraplegia, Hereditary: psychology
|2 MeSH
650 _ 2 |a Spastic Paraplegia, Hereditary: therapy
|2 MeSH
650 _ 2 |a Urinary Bladder Diseases: etiology
|2 MeSH
650 _ 2 |a Young Adult
|2 MeSH
700 1 _ |a Boldt, Andreas
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700 1 _ |a Völker, Maximilian
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700 1 _ |a Wiethoff, Sarah
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700 1 _ |a Hengel, Holger
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700 1 _ |a Schüle, Rebecca
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700 1 _ |a Schöls, Ludger
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Marc 21