Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.

BACKGROUND AND PURPOSE: Tay-Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in ß-hexosaminidase leads to accumulation of GM2 ganglioside resulting in neuronal swelling and degeneration. Typical onset is in infancy with developmental regression and early death. Late-onset Tay-Sachs disease (LOTS) is extremely rare, especially in the non-Ashkenazi Jewish population, and is characterized by a more indolent presentation typically encompassing features of cerebellar and anterior horn cell dysfunction in addition to extrapyramidal and neuropsychiatric symptoms. CASES: A case series of four unrelated patients of non-Ashkenazi Jewish origin with a predominantly, and in some cases pure, neuromuscular phenotype with evidence of a motor neuronopathy on electromyography is presented. Cerebellar atrophy, reported to be a ubiquitous feature in LOTS, was absent in all patients. CONCLUSION: This case series provides evidence to support a pure neuromuscular phenotype in LOTS, which should be considered in the differential diagnosis of anterior horn cell disorders.

Potential eligibility for Aducanumab therapy in an Irish specialist cognitive service-Utilising cerebrospinal fluid biomarkers and appropriate use criteria.

OBJECTIVES: Aducanumab is a monoclonal antibody which has recently been licenced for use by the food and drug administration for treatment of patients with mild cognitive impairment due to Alzheimer's disease (AD) or mild AD dementia. Appropriate use criteria (AUC) for Aducanumab in clinical practice are available. We look to review patients in our specialist interdisciplinary cognitive service with positive cerebrospinal fluid (CSF) biomarkers for AD for their hypothetical eligibility for Aducanumab, or a similar anti-amyloid agent. METHODS: Retrospective analysis was undertaken of patients with positive AD-biomarker CSF analysis. Data available at time of CSF analysis was reviewed to determine hypothetical eligibility for Aducanumab. RESULTS: Seventy patients had positive AD-CSF biomarkers. Forty nine of these were seen in the Gerontology-led service, with 21 in the neurology cohort. Average patient age was 70 years old. Forty patients (57%) met eligibility criteria for Aducanumab therapy by AUC guidelines. CONCLUSION: We highlight the patients within our service who would be appropriate for Aducanumab or similar anti-amyloid agents should licencing be granted in the European Union, and the need to develop the resources and capacity to deliver this or other emerging disease modifying AD therapies. CLINICAL TRIAL REGISTRATION: All patients in the combined cognitive clinic provide consent re willingness to be contacted re research.

Brachiocephalic artery aneurysm plaque rupture, stroke & repair.

A 70 year old left-handed man presented to his general practitioner with abnormal left arm movements, left hemianopia and loss of balance. He was found to have an isolated brachiocephalic artery aneurysm, measuring 3.5 cm, with associated plaque rupture, contributing to recurrent episodes of transient ischemic attack. He was discussed extensively by a multidisciplinary team. e concurrently had complete occlusion of the right internal carotid artery with distal reconstitution in its supraclinoid segment from collaterals. Stenting of the region would necessitate inappropriately covering the right vertebral artery which would further compromise intracerebral blood. Surgical intervention was deemed the only safe option and he was thus accepted for cardiothoracic surgery. Standard workup revealed left anterior descending artery stenosis. He underwent coronary artery bypass grafting, left atrial appendectomy and brachiocephalic artery resection with replacement with a interposition graft with 10 mm polytetrafluoroethylene graft. He recovered well. This case demonstrates the multi-disciplinary decision making in a rare cause of embolic stroke.

An evaluation of optimal tutorial methodologies for neurology teaching at undergraduate level : Optimal tutorial methods for neurology.

AIM: We aim to determine the efficacy of an intensive week of large group tutorials in the teaching of neurology to medical students. We also look to compare teaching methods within our centre. METHODS: Students were asked to complete a questionnaire before and after large group tutorials ranking their confidence in neurology. Students from two consecutive years were studied, each using a different tutorial method. An 'intensive week' approach was then compared to a 'once a week' approach. RESULTS: Responses from pre and post the tutorial week were compared. Students reported an improvement in all domains following either method of delivering tutorials. There was no statistically significant difference between the two approaches. CONCLUSION: Large group tutorials are an effective way of delivering neurology teaching to undergraduate medical students.