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Background: Celiac disease is associated with motor cortex hyperexcitability and neurological manifestations including cortical myoclonus. Electroencephalography abnormalities have been described, but no distinct pattern has been reported. Methods: We describe the neurophysiological characteristics of 3 patients with celiac‐associated cortical myoclonus using electroencephalography, magnetoencephalography, and transcranial magnetic stimulation. Results: Electroencephalography in all cases demonstrated lateralized low‐amplitude, electropositive beta‐frequency polyspike activity over the central head region, corresponding to motor cortex contralateral to the myoclonic limb. Jerk‐locked back‐averaging demonstrated a preceding cortical potential; magnetoencephalography source localization revealed a cortical generator in the posterior wall of the precentral gyrus for the back‐averaged potential and oscillatory abnormality. In 1 patient, cerebellar inhibition of the motor cortex was physiologically normal. Conclusions: Central head oscillatory, low‐amplitude, electropositive electroencephalography polyspike activity may be a distinct marker of celiac‐related cortical myoclonus and is consistent with celiac‐related motor cortex hyperexcitability, which may not necessarily result from cerebellar disinhibition. © 2020 International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR]

Background: The prevalence of neurodegenerative diseases is increasing as the population ages. As these diseases are often incurable, progressive, and associated with significant loss of ability to communicate over time, it is paramount that advanced care planning (ACP) take place early in the disease trajectory to facilitate goal‐concordant care. There is increasing recognition of the barriers for neurologists to facilitate ACP and end‐of‐life care. Palliative care is a medical speciality that focuses on improving quality of life for patients living with serious illness, including helping with healthcare planning and decision‐making that align with the individual's values and goals. However, there is a paucity of literature on how to best integrate palliative care or which elements of an integrated neuro‐palliative approach are the most beneficial to patients, caregivers, and clinicians. Our study aims to assess the experience of an embedded pilot clinic between Neurology and Palliative Care at the University Health Network (UHN) Memory Clinic on patients/caregivers and health care practitioners. Methods: We aim to recruit 60 participants, including patients and family members, seen at the UHN Supportive Care Memory Clinic, and who screen positive for three of seven triggers for palliative care involvement for neurological patients as proposed by the National End of Life Care Programme of National Health Service in England. ACP conversations will follow an evidence‐based semi‐structured conversation guide. The impact of the clinic will be evaluated using patient, caregiver, and both Neurology and Palliative Care team member experience surveys. Secondary measures will include the percentage change in ACP and Power of Attorney documentation pre and post initiation of the clinic. Results: From clinic inception in June 2020, 19 patients were seen (all‐virtual). Due to the COVID‐19 pandemic, the clinic was paused for the majority of 2021. Our study received UHN Quality Improvement approval in March 2021, and we began enrolling patients into our study in November 2021; enrolment is ongoing. Conclusions: The results of this study will serve as a guide for quality improvement of our existing clinic and can inform future implementation of scalable integrated models of care between palliative care and neurology, and for other subspecialties and centres. [ABSTRACT FROM AUTHOR]

Background: Williams syndrome (WS; chromosome 7q11.23 deletion) is a rare, multisystemic, neurodevelopmental disorder with variable penetrance and expressivity. Although movement and psychiatric disorders are known to occur in individuals with WS, parkinsonism, dystonia, and treatment-resistant schizoaffective disorder have not been formally described., Methods: We present two unrelated cases of adults with molecularly confirmed WS and typical histories of developmental delays, intellectual/learning disabilities, and treatment-responsive anxiety/mood disorder who developed similar noteworthy neuropsychiatric expressions. We reviewed detailed neuropsychiatric histories, laboratory investigations, neuroimaging, and treatment responses and compared data for the two cases., Results: Both individuals developed treatment-resistant schizoaffective disorder in adulthood requiring multiple trials of antipsychotic treatments. While on clozapine, both patients developed parkinsonism and generalized dystonia with truncal involvement that responded to trials of low-dose levodopa without exacerbating underlying psychotic or affective symptoms., Conclusion: This report illustrates the novel occurrence of levodopa-responsive movement disorders and treatment-resistant schizoaffective disorder in individuals with WS, adding to the expanding neuropsychiatric phenotypes, and highlighting potential shared underlying mechanisms. The observed treatment response suggests that levodopa, in relatively low doses, may be safe and useful in ameliorating presumed antipsychotic-associated parkinsonism and tardive dystonia in WS., (© 2024. The Author(s).)