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

Autor: Holger Hengel, Andreas Boldt, Sarah Wiethoff, Ludger Schöls, Tim W. Rattay, Maximilian Völker, Rebecca Schüle
Rok vydání: 2019
Předmět:
Male
Pediatrics
physiopathology [Paraplegia]
Neurology
therapy [Spastic Paraplegia
Hereditary]
etiology [Sexual Dysfunction
Physiological]
0302 clinical medicine
psychology [Paraplegia]
030212 general & internal medicine
Restless legs syndrome
Fatigue
Depression (differential diagnoses)
Depression
Urinary Bladder Diseases
Montreal Cognitive Assessment
Middle Aged
Mental Status and Dementia Tests
etiology [Pain]
etiology [Memory Disorders]
Female
medicine.symptom
Adult
medicine.medical_specialty
Spastic gait
etiology [Fatigue]
etiology [Depression]
Hereditary spastic paraplegia
psychology [Cognition Disorders]
etiology [Urinary Bladder Diseases]
psychology [Fatigue]
etiology [Restless Legs Syndrome]
Pain
Young Adult
03 medical and health sciences
physiopathology [Spastic Paraplegia
Hereditary]
psychology [Spastic Paraplegia
Hereditary]
Restless Legs Syndrome
medicine
Humans
etiology [Fecal Incontinence]
ddc:610
therapy [Paraplegia]
Aged
Paraplegia
Memory Disorders
Spastic Paraplegia
Hereditary
business.industry
etiology [Cognition Disorders]
medicine.disease
Sexual Dysfunction
Physiological
Sexual dysfunction
psychology [Depression]
psychology [Restless Legs Syndrome]
Quality of Life
Defecation
Self Report
Neurology (clinical)
Cognition Disorders
business
Fecal Incontinence
030217 neurology & neurosurgery
Zdroj: Journal of neurology 267(2), 369-379 (2019). doi:10.1007/s00415-019-09573-w
ISSN: 1432-1459
0340-5354
DOI: 10.1007/s00415-019-09573-w
Popis: 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.
Databáze: OpenAIRE
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