Potential response to treatment
It is recommended that doctors regularly screen SPG4 HSP patients for:
as well as inquiring about:
* sexual and
* defecation problems
with a view to recognition and treatment of these types of symptoms to improve quality of life.
There is real potential to improve quality of life through treatment of non-motor symptoms in SPG4 HSP. Depression and pain are significantly increased in the HSP group, as well as frequent bladder, sexual and defecation problems compared to people without HSP.
The SPG4 HSP group also self-reported memory impairment.
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 under-recognized 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.
SOURCE: J Neurol. 2019 Oct 23. doi: 10.1007/s00415-019-09573-w. [Epub ahead of print] PMID: 31646384
Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).
Rattay TW1,2, Boldt A3, Völker M3, Wiethoff S3,4, Hengel H3,4, Schüle R3,4, Schöls L3,4.
1 Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany. [email protected].
2 German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. [email protected].
3 Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.
4 German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.