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

Related Links:

We describe the most highly recommended generic and disease-specific PRO tools in SCD and discuss the challenges of incorporating them in clinical practice. EXPERT OPINION: PRO measures are essential to incorporate into SCD clinical trials either as primary or secondary outcomes. The use of PRO measures in SCD facilitates a patient-centered approach, which is likely to lead to improved outcomes. Significant challenges remain in adapting PRO tools to routine clinical use and in developing countries. PMID: 33034214 [PubMed - as supplied by publisher]
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Source: European Journal of Sport Science - Category: Sports Medicine Authors: Source Type: research
Currently in fellowship doing bread/butter procedures (MBB, epidurals, PNB, few SCS/PNS trials, etc.) and just interviewed at a private practice spot where they do a lot of procedures that I will have not done any training in prior to graduating (e.g. IT pump, SI fusion, Vertiflex, Kypho, MILD, Discectomy, lots of SCS/PNS trials etc) and significant amount of "OR pain procedures" at a very busy practice seeing 30-40 pts/day - how many of you are commonly performing these procedures and are... private practice concern
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Mario Gennaro Mazza, Rebecca De Lorenzo, Caterina Conte, Sara Poletti, Benedetta Vai, Irene Bollettini, Elisa Maria Teresa Melloni, Roberto Furlan, Fabio Ciceri, Patrizia Rovere-Querini, COVID-19 BioB Outpatient Clinic Study group, Francesco Benedetti
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Xiaoqin Liu, Trine Munk-Olsen, Clara Albiñana, Bjarni J. Vilhjálmsson, Emil M. Pedersen, Vivi Schlünssen, Marie Bækvad-Hansen, Jonas Bybjerg-Grauholm, Merete Nordentoft, Anders D. Børglum, Thomas Werge, David M. Hougaard, Preben B. Mortensen, Esben Agerbo
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
Publication date: October 2020Source: Brain, Behavior, and Immunity, Volume 89Author(s): Fernando Lopes, Fernando A. Vicentini, Nina L. Cluny, Alexander J. Mathews, Benjamin H. Lee, Wagdi A. Almishri, Lateece Griffin, William Gonçalves, Vanessa Pinho, Derek M. McKay, Simon A. Hirota, Mark G. Swain, Quentin J. Pittman, Keith A. Sharkey
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
BEST supplements to relieve joint pain: Is your arthritis playing up? The wetter and colder months could partially be to blame. These two pills may help.
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
Authors: Kim H, Lim YM, Lee EJ, Kim HW, Ahn HS, Kim KK PMID: 33029979 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: More than half of the iIONP patients had an enhanced oculomotor nerve in MRI. A few of them also had elevated CSF IgG synthesis rate, but no further evidence for inflammation was found. The administration of steroids seemed to have no benefit other than increasing the blood glucose level. PMID: 33029972 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: Individually customized, multicomponent exercise programs lead to improved levels of cognitive function, depression, and quality of life, especially among those who are more frail. PMID: 33029968 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
More News: Brain | Depression | Genetics | Motor Neurone Disease | Neurology | Pain | Restless Legs Syndrome | Sexual Dysfunction | Study