Kennedy ’s disease: an under-recognized motor neuron disorder

AbstractKennedy ’s disease or spinal bulbar muscular atrophy is a rare, inherited and slowly progressive multisystem disease mostly manifesting with a motor neuron disease phenotype leading to disability. The slow progression, partial androgen insensitivity, electrophysiological evidence of sensory neuronopathy, and relatively spared central nervous system pathways help differentiate it from amyotrophic lateral sclerosis. To date, there is no treatment or cure with clinical care mainly focused on accurate diagnosis, symptom management, patient education, and genetic counselling.
Source: Acta Neurologica Belgica - Category: Neurology Source Type: research

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CONCLUSIONS: (1) The gradually developing motor neuron loss of the anterior horns of the spinal cord is reflected in physical fitness impairment in the ALS patients. (2) The exacerbation of cognitive impairment accompanies the intensifying physical disability. (3) The exacerbation of depression in the course of amyotrophic lateral sclerosis is of transient nature. PMID: 32772061 [PubMed - in process]
Source: Psychiatria Polska - Category: Psychiatry Tags: Psychiatr Pol Source Type: research
CONCLUSIONS: Currently, there is a lack of high-certainty evidence to guide practice on the use of cell-based therapy to treat ALS/MND. Uncertainties remain as to whether this mode of therapy is capable of restoring muscle function, slowing disease progression, and improving survival in people with ALS/MND. Although one RCT provided low-certainty evidence that BM-MSC may slightly reduce functional impairment measured on the ALSFRS-R after four to six months, this was a small phase II trial that cannot be used to establish efficacy. We need large, prospective RCTs with long-term follow-up to establish the efficacy and safet...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
CONCLUSIONS: RMT may improve lung capacity and respiratory muscle strength in some NMDs. In ALS there may not be any clinically meaningful effect of RMT on physical functioning or quality of life and it is uncertain whether it causes adverse effects. Due to clinical heterogeneity between the trials and the small number of participants included in the analysis, together with the risk of bias, these results must be interpreted very cautiously. PMID: 31487757 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Authors: Source Type: research
Conclusion The key problem with the ND field is the lack of understanding in the events preceding the development of protein-based markers – such as Tau – currently used to diagnose NDs. By this stage, the diseases become more difficult to treat. SncRNAs play an important regulatory role in the maintenance of the homeostatic brain. Therefore, changes in their concentration levels can be indicative of mechanistic changes that could precede protein-based markers. One single sncRNA biomarker is unlikely to differentiate between diseases. However, a combination of sncRNA biomarkers could be illustrative of the me...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Conclusions The momentous advances in spinal imaging in ALS suggest the spinal metrics may soon be used as validated diagnostic, monitoring, and prognostic markers, contributing both to individualized patient care and pharmacological trials. Author Contributions ME, GQ, PB, and P-FP contributed equally to the conceptualization, drafting, and revision of the manuscript. Funding Peter Bede is supported by the Health Research Board (HRB—Ireland; HRB EIA-2017-019), the Iris O'Brien Foundation, the Irish Institute of Clinical Neuroscience IICN—Novartis Ireland Research Grant, and the Research Motor Neur...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Abstract Diseases of the motor-conducting system that cause moving disability affect socio-economic activity as well as human dignity. Neurolathyrism, konzo, and amyotrophic lateral sclerosis-parkinsonism-dementia complex (ALS-PDC) have attracted researchers to study the pathology of motor neuron (MN) diseases such as ALS. I have been studying neurolathyrism, which is caused by overconsumption of a legume grass pea (Lathyrys sativus L.). Among people who consume the legume as a food staple, many developed life-long paraparesis in their legs. β-N-oxalyl-l-α,β- diaminopropionic (l-β-ODAP; BOAA),...
Source: Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan - Category: Drugs & Pharmacology Authors: Tags: Yakugaku Zasshi Source Type: research
Publication date: Available online 13 December 2018Source: The Lancet NeurologyAuthor(s): Nilo Riva, Gabriele Mora, Gianni Sorarù, Christian Lunetta, Ottavia E Ferraro, Yuri Falzone, Letizia Leocani, Raffaella Fazio, Mauro Comola, Giancarlo Comi, Fabio Formaglio, Paolo Rossi, Marta Clerici, Yuri Matteo Falzone, Laura Pozzi, Daniele Martinelli, Federica Cerri, Ignazio Diego Lopez, Filippo Martinelli-Boneschi, Angelo QuattriniSummaryBackgroundSpasticity is a major determinant of disability and decline in quality of life in patients with motor neuron disease. Cannabinoids have been approved for symptomatic treatment of...
Source: The Lancet Neurology - Category: Neurology Source Type: research
Publication date: Available online 5 November 2018Source: The Lancet NeurologyAuthor(s): Giancarlo Logroscino, Marco Piccininni, Benoît Marin, Emma Nichols, Foad Abd-Allah, Ahmed Abdelalim, Fares Alahdab, Solomon Weldegebreal Asgedom, Ashish Awasthi, Yazan Chaiah, Ahmad Daryani, Huyen Phuc Do, Manisha Dubey, Alexis Elbaz, Sharareh Eskandarieh, Farzaneh Farhadi, Farshad Farzadfar, Seyed-Mohammad Fereshtehnejad, Eduarda Fernandes, Irina FilipSummaryBackgroundUnderstanding how prevalence, incidence, and mortality of motor neuron diseases change over time and by location is crucial for understanding the causes of these d...
Source: The Lancet Neurology - Category: Neurology Source Type: research
Publication date: Available online 25 September 2018Source: Egyptian Journal of AnaesthesiaAuthor(s): Bo-Ra Kim, Young-Bok Lee, Su-Jin Kim, Young-Wan KimAbstractAmyotrophic lateral sclerosis, which is also known as motor neuron disease, is a chronic neurodegenerative disease characterized by progressive muscular weakness, respiratory muscle disability, and eventual death. Previous epidemiologic studies have shown no association between cancer and amyotrophic lateral sclerosis. Colorectal cancer arising in patients with amyotrophic lateral sclerosis has rarely been reported. Here, we report a case involving rectal cancer ar...
Source: Egyptian Journal of Anaesthesia - Category: Anesthesiology Source Type: research
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