Faculty Bibliography

Parkinson's disease (PD) results in a complex deterioration of motor behavior. Effective pharmacological or surgical treatments addressing the whole spectrum of both motor and cognitive symptoms are lacking. The cumulative functional impairment may have devastating socio-economic consequences on both patients and caregivers. Comprehensive models of care based on multidisciplinary approaches may succeed in better addressing the overall complexity of PD. Neurorehabilitation is a highly promising non-pharmacological intervention for managing PD. The scientific rationale beyond rehabilitation and its practical applicability remain to be established. In the present perspective, we aim to discuss the current evidence supporting integrated motor-cognitive and aerobic rehabilitation approaches for patients with PD while suggesting a practical framework to optimize this intervention in the next future.

The Second Safety in College Football Summit resulted in interassociation consensus recommendations for three paramount safety issues in collegiate athletics: (1) independent medical care for collegiate athletes; (2) diagnosis and management of sport-related concussion; and (3) year-round football practice contact for collegiate athletes. This document, the fourth arising from the 2016 event, addresses the prevention of catastrophic injury, including traumatic and non-traumatic death, in collegiate athletes. The final recommendations in this document are the result of presentations and discussions on key items that occurred at the summit. After those presentations and discussions, endorsing organisation representatives agreed on 18 foundational statements that became the basis for this consensus paper that has been subsequently reviewed by relevant stakeholders and endorsing organisations. This is the final endorsed document for preventing catastrophic injury and death in collegiate athletes. This document is divided into the following components. (1) Background-this section provides an overview of catastrophic injury and death in collegiate athletes. (2) Interassociation recommendations: preventing catastrophic injury and death in collegiate athletes-this section provides the final recommendations of the medical organisations for preventing catastrophic injuries in collegiate athletes. (3) Interassociation recommendations: checklist-this section provides a checklist for each member school. The checklist statements stem from foundational statements voted on by representatives of medical organisations during the summit, and they serve as the primary vehicle for each member school to implement the prevention recommendations. (4) References-this section provides the relevant references for this document. (5) Appendices-this section lists the foundational statements, agenda, summit attendees and medical organisations that endorsed this document.

Orthostatic hypotension (OH) is a sustained fall in blood pressure on standing that can cause symptoms of organ hypoperfusion. OH is associated with increased morbidity and mortality and leads to a significant number of hospital admissions. OH can be caused by volume depletion, blood loss, cardiac pump failure, large varicose veins, medications, or defective activation of sympathetic nerves and reduced norepinephrine release upon standing. Neurogenic OH is a frequent and disabling problem in patients with synucleinopathies such as Parkinson disease, multiple system atrophy, and pure autonomic failure, and it is commonly associated with supine hypertension. Several therapeutic options are available.

BACKGROUND:Advanced Parkinson's disease (PD) is a multidimensional neurodegenerative condition with motor and non-motor symptoms contributing to increasing disability and decreasing quality of life. As the disease progresses, patients may become homebound and estranged from neurological care, with dire consequences. We describe the increasing epidemiologic burden of and individual risks faced by patients with palliative-stage PD and their caregivers. METHODS:With the aim of mitigating these risks, we designed and iterated two models of interdisciplinary home visits to maintain continuity of care and illuminate the unmet needs and barriers to care faced by this population. We describe both models in detail, with data on feasibility and patient-centered outcomes achieved in the initial model, and baseline characteristics of participants in the ongoing expanded model. Finally, we illustrate the scope and common themes of such palliative care-informed home visits with two cases. RESULTS:The pilot model involved over 380 visits with 109 individual patients. Among those patients, PD severity worsened by nearly 12 points annually on the Unified Parkinson's Disease Rating Scale (UPDRS), without a corresponding decline in quality of life. In an ongoing study of the second iteration of the model, 52 patient-caregiver dyads have completed their initial visit, with 44% bearing a diagnosis of dementia and the majority requiring an assistive device or being bedbound. Two cases highlight the critical importance of thorough medication reconciliation and home safety assessment in the comprehensive evaluation and management of such patients. CONCLUSIONS:As our population ages, therapies increase, and the number of individuals living with advanced PD and related disorders grows, so too does the imperative to recognize and address the palliative care needs of such patients and families. For many, home may be a viable, and perhaps optimal, site for this care.

PURPOSE/OBJECTIVE:This study reports the ophthalmic and genetic findings of a Cameroonian patient with autosomal recessive retinitis pigmentosa (arRP) caused by a novel Receptor Expression Enhancing Protein 6 (REEP6) homozygous mutation. PATIENT AND METHODS/METHODS:A 33-year-old man underwent comprehensive ophthalmic examinations, including visual acuity measurements, dilated fundus imaging, electroretinography (ERG), and spectral-domain optical coherence tomography (SD-OCT). Short-wavelength fundus autofluorescence (SW-AF) and near-infrared fundus autofluorescence (NIR-AF) were also evaluated. Whole exome sequencing (WES) was used to identify potential pathogenic variants. RESULTS:Fundus examination revealed typical RP findings with additional temporal ten micron yellow dots. SD-OCT imaging revealed cystoid macular edema and perifoveal outer retinal atrophy with centrally preserved inner segment ellipsoid zone (EZ) bands. Hyperreflective spots were seen in the inner retinal layers. On SW-AF images, a hypoautofluorescent area in the perifoveal area was observed. NIR-AF imaging revealed an irregularly shaped hyperautofluorescent ring. His visual acuity was mildly affected. ERG showed undetectable rod responses and intact cone responses. Genetic testing via WES revealed a novel homozygous mutation (c.295G>A, p.Glu99Lys) in the gene encoding REEP6, which is predicted to alter the charge in the transmembrane helix. CONCLUSIONS:This report is not only the first description of a Cameroonian patient with arRP associated with a REEP6 mutation, but also this particular genetic alteration. Substitution of p.Glu99Lys in REEP6 likely disrupts the interactions between REEP6 and the ER membrane. NIR-AF imaging may be particularly useful for assessing functional photoreceptor cells and show an "avocado" pattern of hyperautofluorescence in patients with the REEP6 mutation.

A patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was found to have a posterior fossa arachnoid cyst (PFAC) compressing the cerebellum. The patient was referred to our Ataxia Unit for consideration of surgical drainage of the cyst to improve his clinical constellation. This scenario led to an in-depth analysis including a literature review, functional resting-state MRI analysis of our patient compared to a group of controls, and genetic testing. While it is reasonable to consider that there may be a causal relationship between PFAC and neurodevelopmental or psychiatric symptoms in some patients, there is also a nontrivial prevalence of PFAC in the asymptomatic population and a significant possibility that many PFAC are incidental findings in the context of primary cognitive or psychiatric symptoms. Our functional MRI analysis is the first to examine brain function, and to report cerebellar dysfunction, in a patient presenting with cognitive/psychiatric symptoms found to have a structural abnormality compressing the cerebellum. These neuroimaging findings are inherently limited due to their correlational nature but provide unprecedented evidence suggesting that cerebellar compression may be associated with cerebellar dysfunction. Exome gene sequencing revealed additional etiological possibilities, highlighting the complexity of this field of cerebellar clinical and scientific practice. Our findings and discussion may guide future investigations addressing an important knowledge gap-namely, is there a link between cerebellar compression (including arachnoid cysts and possibly other forms of cerebellar compression such as Chiari malformation), cerebellar dysfunction (including fMRI abnormalities reported here), and neuropsychiatric symptoms?

The main aim of this study was evaluating the reliability of stimulus-evoked electromyography (using different thresholds for stimulation of the instrumentation devices) for minimally invasive pedicle screw placement in the lumbosacral spine. A threshold of 5 mA was applied for the pedicle access needle. 7 mA was applied for the tapscrew and pedicle screw stimulation. The existence of threshold differences between vertebral levels was also assessed. All patients underwent postoperative computed tomography (CT) to determine the accuracy of pedicle screw placement. A total of 172 percutaneous pedicle screws were placed in 52 patients. 94.1% of screws were placed at L4, L5 and S1 vertebral levels. No statistically significant differences existed in thresholds of the pedicle access needles, tapscrews and pedicle screws between vertebral levels. In four instances, the pedicle access needle stimulation had a threshold of 5 mA (no breaches were associated). In the rest of occasions, the pedicle access needles had stimulation thresholds above 5 mA. In all instances, tapscrew and pedicle screw thresholds were above 7 mA; the tapscrews and pedicle screws had significantly greater thresholds than the pedicle access needles. No statistically significant differences existed in thresholds between tapscrews and pedicle screws. Postoperative CT imaging revealed one lateral pedicle violation. Both breach rate and false negative rate were 0.5%. No false positive cases were observed. No patients experienced postoperative pedicle screw-related neurologic deficits. A threshold of 5 mA for the pedicle access needle stimulation seems to be safe. Greater than 7 mA should be used for the tapscrew and pedicle screw stimulation.