A joint study by the National Neuroscience Institute (NNI) and Singapore General Hospital (SGH) has revealed that patients who have been diagnosed with Parkinson’s disease might actually have NIID instead.
NIID is a disabling neurodegenerative condition due to a gene mutation and has no effective treatment. Symptoms of NIID include dementia, Parkinsonism, poor balance, as well as numbness and weakness in the limbs.
A patient with NIID may or may not experience symptoms, depending on age and stage of disease. The severe form of NIID is usually seen in older patients, where the disease has progressed to an advanced stage.
The team studied more than 2,000 study participants, comprising healthy individuals and those with Parkinson’s disease (PD), over more than a decade. They were surprised to find NIID-causing mutations in those diagnosed with PD.
Dr Ma Dongrui, first author of the study, says: “To our knowledge, this is the first study reporting PD patients with NOTCH2NLC gene mutations as seen in NIID patients. Thankfully, they responded to PD medications better than most PD patients do. This suggests that there must be factors that can influence why some develop PD while many others develop the more severe form of NIID.”
While analysing the NIID gene, the team found a group of healthy participants who had a “milder” form of mutation. Such mutation in the NIID gene could indicate that they are at risk of developing NIID or PD. Since NIID can go undetected, a high index of suspicion may be needed even in PD patients.
Professor Tan Eng King, deputy medical director and director of research, NNI, says: “With what we know now, it might be beneficial for clinicians to be watchful of early cognitive impairment or imaging evidence that may suggest NIID in patients diagnosed with PD. As NIID is caused by a genetic mutation, it also may be worth looking out for family members of PD patients who may show signs of NIID.
“Our findings suggest that many neurodegenerative diseases overlap and may share a common etiology. Finding a common link and uncovering the reason why a similar gene mutation leads to both mild PD and a severe form of NIID can help identify new drugs for these conditions.”
Following this study, the team plans to conduct more studies to better understand the mechanism behind NIID and identify new drugs for this condition.
More research is needed to understand if the broad clinical phenotype of NIID is related to the subtle genetic differences at the NOTCH2NLC gene locus, race or other factors. Long-term follow-up of carriers of the gene mutation with PD phenotype may provide additional clues.
Parliament launches concussion in sport inquiry
A Parliamentary inquiry is to be held to examine the link between sport and long-term brain injury.
The Digital, Culture, Media and Sport (DCMS) Committee will look into the issue over two sessions, the first of which will be held next Tuesday.
Through the inquiry, the cross-party group of MPs will consider scientific evidence for links between head trauma and dementia and how risks could be mitigated.
It comes at a time when legal actions across football and both rugby codes are being considered or have already been launched, and follows the 2019 FIELD study which found professional footballers were three-and-a-half times more likely to die of neurodegenerative disease than age-matched members of the population.
Announcing the inquiry, DCMS Committee Chair Julian Knight MP said: “This inquiry will consider scientific evidence to link sport with the incidence of long-term brain injury.
“We will look particularly at what role national governing bodies should be taking and their responsibilities to understand risks involved for players and what actions might be taken to mitigate them.
“We’re seeing a number of cases involving brain injury in sport likely to reach the doors of our law courts and we will also look at the implications for sport in the longer term of any successful legal claim.”
Among those invited to contribute to the inquiry is brain injury charity Headway, which has campaigned on the issue of better safety in sport for years.
Chief Executive Peter McCabe will outline the charity’s long-standing Concussion Aware campaign and its aims of improving concussion awareness, particularly at grassroots and junior levels.
He will also call on the Government to encourage sports’ governing bodies to do more to address the issue.
“Increased scrutiny from this influential cross-party group of MPs is very much welcomed. We hope it will lead to greater pressure on all sports to do more to instil a cultural change in the way head injuries are perceived and treated,” he says.
“It has taken many years of campaigning and Headway repeatedly speaking out in the national media to get to this stage.
“There has been progress in that time, but there still remains a lot to do in terms of elite-level sport consistently setting a good example for grassroots sport to follow.
“We look forward to sharing the charity’s views with the Committee.”
Dr Michael Grey, UKABIF trustee, will also be taking part in the inquiry.
“We are really pleased to be involved in this inquiry,” he says.
“UKABIF has been raising issues surrounding brain injury in sport for a number of years and devoted a section of the APPG Report: Neurorehabilitation and Acquired Brain Injury: A Time for Change to this subject setting out some clear recommendations.
“We will be able to ensure that our evidence-based recommendations are heard at the highest level.”
‘I’ve seen the effects of stroke personally and professionally’
As a nurse working with stroke patients, Chloe Hammond supports people in their recovery every day – but the effects of stroke have also touched her own family. Here, she shares her reasons for fundraising for survivors by walking 1.2 million steps.
A stroke nurse has committed to walking 1.2 million steps to raise money for the Stroke Association, having dealt with the effects of stroke in both her personal and professional life.
Chloe Hammond is completing the challenge as a symbolic reminder of the 1.2 million stroke survivors in the UK, and aims to complete it by walking 10,000 steps a day for 120 days.
Chloe, a nurse at Sunderland Royal Hospital, works in neurorehabilitation but is currently deployed to the hospital’s acute stroke ward, where she sees first-hand the impact that stroke can have in the earliest days of recovery.
And with two members of her own family having had a stroke, she is well aware, both personally and professionally, of the impact it can have on individuals and their loved ones.
“Being on the acute ward and seeing the acute side has been quite challenging, as usually I’m working with patients while they’re in recovery and having their rehabilitation,” says Chloe.
“I absolutely love seeing the progress they are making in neuro rehab, but I’m really pleased to be in the acute setting giving these patients support in the very early stages after their stroke.
“I’ve had two family members who have had haemorrhagic strokes, so I know all too well the effect this has on a person and their family, I’ve been there myself and experience it first-hand.
“So by raising money for the Stroke Association through the Stride for Stroke challenge, we can hopefully make a big difference to them after they are discharged from hospital.”
Currently, with restrictions on visiting, Chloe and her colleagues are giving medical, practical and emotional support to patients in the absence of visits from their families.
“The pandemic, and particularly the lack of visits, has definitely taken a massive mental health toll on a lot of patients,” says Chloe.
“Often, where they could have further rehabilitation in hospital, they say they don’t want it as they don’t want to be here, they want to be with their family at home. So that’s hard, but we support them every step of the way while they’re with us.
“I think for families too, as they can’t come in and see their loved ones, they don’t fully know the impact the stroke has had on them as they haven’t seen the effects for themselves. So they don’t really know what to expect when their loved one comes home.
“But we’re always on hand to give all the support we can, and we often help patients use the technology like FaceTime so they can have those calls with their loved ones, which are now more important than ever.”
Through the Stride for Stroke challenge, Chloe is aiming to raise vital funds, as well as awareness of the importance of exercise which can prove crucial in reducing risk of stroke.
“I’m trying to walk to and from work and do a little bit more exercise than I normally would on my days off to get to the 1.2 million target,” says Chloe.
“I’m enjoying going on some longer walks with my pug Rodney too, he gets me out even despite the bad weather and snow we’ve had recently.
“But exercise is so important, and particularly working on the acute stroke ward at the minute, it reminds you of how important it really is to keep active, and do all you can to reduce the risk factors.”
* To support Chloe in the Stride for Stroke challenge, visit www.justgiving.com/chloe-hammond6
Vital rehab spaces being used for storage in Scotland
Patients are missing out on physiotherapy and rehabilitation services because vital spaces are being de-prioritised by Scottish health boards, the Chartered Society of Physiotherapy has warned.
Reports from across Scotland reveal that rehabilitation facilities are being used for storage space and meeting rooms while the pace of re-opening and re-starting services remains slow.
During this second wave of the pandemic, physiotherapy will be critical to Covid-19 rehabilitation. Physiotherapists assist Covid and “Long Covid” patients recovering from fatigue, ongoing respiratory problems, deconditioning and poor mental health. In addition, the closure of rehabilitation services means that many non-Covid patients with long-term conditions have deteriorated, and now require more rehabilitation, alongside the ongoing needs of cardiac, stroke and respiratory referrals in the community.
Despite this huge need, rehabilitation spaces in various health boards are being moved out without relocation plans and gymnasiums are being requisitioned for other purposes such as storage and meeting rooms. In a recent survey, 47% of CSP members in Scotland said reported that a loss of rehabilitation space is why services have been unable to resume. Relocation and redesign is taking place without risk assessments, with poor planning and a lack of consultation.
Kenryck Lloyd-Jones, CSP Public Affairs and Policy Manager for Scotland, said: “The reports we are receiving from across Scotland are deeply concerning. It seems that not only are physiotherapy and rehabilitation services being slow to restart, they are being moved without relocation plans, downgraded or undervalued. We recognise the challenges in health settings and the need to re-organise, but it is essential that rehabilitation services are prioritised.
“Changes require proper consultation, risk assessment and planning. It is critical that the rehabilitation needs of people are not forgotten.”
A number of patient groups are also warning of a lack of investment and undervaluing of rehabilitation. While some rehabilitation is taking place virtually, physiotherapists still need enough space and equipment to run sessions effectively.
The CSP wrote to all regional health boards last month to urge them to prioritise rehabilitation as services are re-started, stating: “The CSP is strongly advising action to address this lag in progress, not least because the post-Covid rehabilitation needs of Scotland’s communities are pressing. Local authorities and Integrated Joint Boards also need to ensure that where rehabilitation is required in community settings, that health professionals can resume services.
“With the publication of the Scottish government’s rehabilitation framework, the emphasis must return to early intervention, reducing hospital admission, early supported discharge and improved outcomes. Musculoskeletal and community rehabilitation services are essential to this.”
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