Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4)

AbstractHereditary spastic paraplegias (HSP) share as cardinal feature progressive spastic gait disorder. SPG4 accounts for about 25% of cases and is caused by mutations in theSPAST 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 regular...
Source: Journal of Neurology - Category: Neurology Source Type: research

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Source: Blood Cells, Molecules, and Diseases - Category: Hematology Source Type: research
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Source: Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy - Category: Drugs & Pharmacology Authors: Tags: ORIGINAL RESEARCH ARTICLE Source Type: research
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Source: Journal of Dermatological Treatment - Category: Dermatology Tags: J Dermatolog Treat Source Type: research
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Source: Journal of Psychiatric Research - Category: Psychiatry Source Type: research
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Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
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Source: International Journal of Aging and Human Development - Category: Geriatrics Tags: Int J Aging Hum Dev Source Type: research
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