Background: Motor neuron disease (MND) is a severe neurodegenerative disease with largely unknown etiology. Most epidemiological studies are hampered by small sample sizes and/or the retrospective collection of information on behavioural and lifestyle factors. Methods: 1.3 million...
Motor neuron disease (MND) is a fatal, progressive neurodegenerative disease that causes progressive weakening and wasting of limb, bulbar, thoracic and abdominal muscles. Clear evidence-based guidance on how psychological distress should be managed in p
Genetic testing is a key decision-making point for people with motor neuron disease (MND); to establish eligibility for clinical trials, better understand the cause of their condition, and confirm the potential risk to relatives, who may be able to access predictive testing. Given the wide-...
Samples were fixed for 35 min in 4% paraformaldehyde (EMS, cat. no. 15710), washed three times with 1 × PBS, and permeabilized in 0.3% Triton-X100 + 4% normal horse serum (NHS) (Sigma) for 60 min. Samples were blocked in 4% NHS (Sigma), and all subsequent steps were ...
A study published in the New England Journal of Medicine has shown the safety and tolerability of the new investigational drug tofersen, which has the potential to reduce the levels of a toxic cell protein in people living with a form of motor neuron dis
Spinal Muscular Atrophy (SMA) is a mainly childhood-onset form of motor neuron disease1,2, caused by a dele- tion or loss-of-function mutation of the Survival Motor Neuron-1 (SMN1) gene3. The protein product; Survival Motor Neuron (SMN) is a cell-ubiquitous, key component of the ...
NHS Normal horse serum NII Neuronal intranuclear inclusion ORA Overrepresentation analysis PRC Polycomb repressive complex PV Parvalbumin rpm Revolutions per minute RT Room temperature SCA Spinocerebellar ataxia SD Standard deviation SPN Spiny projection neuron Supplementary Information The online...
There are 90 independent genome-wide significant genetic risk variants for Parkinson’s disease (PD) but currently only five nominated loci for PD progression. The biology of PD progression is likely to be of central importance in defining mechanisms tha
these results show quantitatively that sporadic ALS-TDP exhibits high intraindividual pathological homogeneity across the cortico-spinal neuraxis, and that non-TDP-43 proteinopathies are more likely to display significant lower motor neuron predominance than TDP-43 disease, which is in broad concordance...
Spiller KJ, Restrepo CR, Khan T, Stieber AM, Kwong LK, Trojanowski JQ et al (2016) Progression of motor neuron Disease is accelerated and the ability to recover is compromised with advanced age in rNLS8 mice. Acta Neuropathol Commun 4(1):105 52. Cooper-Knock J, Zhang S, Kenna KP, ...