Ethnicity and deprivation negatively impact the access to disease-modifying therapy for relapsing-remitting multiple sclerosis: a retrospective, single-centre study.

Background: A growing body of evidence suggests inequitable access to disease-modifying therapies (DMTs) for multiple sclerosis (MS) in publicly funded healthcare systems. This retrospective study examined the impact of ethnicity and deprivation on the access to DMTs.

Methods: All adults diagnosed with relapsing-remitting MS between 2010 and 2020 were included.

Identifying co-morbidities and risk in people with epilepsy: The Maltese experience.

Background: People with epilepsy are at increased risk of multiple co-morbidities that may influence risk of adverse outcomes including impact on quality of life and premature mortality. These risk factors include potentially modifiable clinical characteristics associated with sudden unexpected death in epilepsy (SUDEP). For services to tackle risk, the clinical complexity of the target epilepsy population needs to be defined.

Amantadine toxicity causing visual hallucinations.

Amantadine is an N-methyl-d-aspartate receptor agonist with secondary dopaminergic activity that is used to treat Parkinson's disease-related dyskinesia and to treat fatigue in multiple sclerosis. It is primarily renally excreted and so impaired kidney function prolongs its half-life and may lead to toxicity. We describe a woman with multiple sclerosis taking amantadine who developed acute renal impairment, which triggered florid visual hallucinations that resolved on stopping the medication.

SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo.

Amyotrophic lateral sclerosis (ALS) is frequently caused by mutations in the SOD1 gene. Here, we report the first SOD1 variant in Malta, an archipelago of three inhabited islands in southern Europe. We describe a patient with a sporadic form of ALS living on the island of Gozo in which the heterozygous SOD1 c.

Progressive encephalomyelitis with rigidity and myoclonus (PERM).

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome (formerly stiff-man syndrome). It is rare and disabling, and characterised by brainstem symptoms, muscle stiffness, breathing issues and autonomic dysfunction. We describe a 65-year-old man who presented with odynophagia together with tongue and neck swelling, followed by multiple cranial nerve palsies culminating in bilateral vocal cord paralysis with acute stridor.

Occupation and amyotrophic lateral sclerosis risk: a case-control study in the isolated island population of Malta.

Amyotrophic lateral sclerosis (ALS) is a mostly sporadic neurodegenerative disease. The role of environmental factors has been extensively investigated but associations remain controversial. Considering that a substantial proportion of adult life is spent at work, identifying occupations and work-related exposures is considered an effective way to detect factors that increase ALS risk.

Eslicarbazepine acetate response in intellectual disability population versus general population.

Background: A quarter of people with intellectual disability (ID) have epilepsy, compared to approximately one in a hundred across the general population. Evidence for the safe and effective prescribing of antiepileptic drugs (AEDs) for those with ID is, however, limited.

Aims Of Study: This study seeks to strengthen the research evidence around Eslicarbazepine Acetate (ESL), a new AED, by comparing response of individuals with ID to those from the general population who do not have ID.

Lacosamide in the general population and in people with intellectual disability: Similar responses?

Purpose: Epilepsy prevalence is significantly higher in people with Intellectual Disability (ID) compared to people with epilepsy (PWE) from the general population. Increased psychological and behavioural problems, healthcare costs, morbidity, mortality and treatment resistance to antiepileptic drugs (AEDs) is associated with epilepsy in ID populations. Prescribing AEDs for PWE and ID is challenging and influenced heavily by studies conducted with the general population.

A subarachnoid haemorrhage-specific outcome tool.

Functional outcome after subarachnoid haemorrhage has traditionally been assessed using scales developed for other neurological conditions. The modified Rankin score and Glasgow Outcome Scale are most commonly used. Employment of these scales in subarachnoid haemorrhage is hampered by well recognized limitations.

Neurosarcoidosis associated with intracerebral haemorrhage: a challenge in diagnosis and management.

Sarcoidosis is an idiopathic multisystem granulomatous disorder of unknown cause. Nervous system involvement (central and/or peripheral) is uncommon, developing in 5%-10%. The presenting symptoms are variable, reflecting the level of involvement, and frequently fluctuate and progress.

Acute respiratory distress syndrome following alemtuzumab therapy for relapsing multiple sclerosis.

We present the case of a 54 year old woman with known relapsing-remitting multiple sclerosis who presented with acute respiratory deterioration five weeks after a first course of alemtuzumab. Imaging showed bilateral ground glass changes and extensive investigations confirmed chest infection with dual pathogens - Pneumocystis jirovecii and Cytomegalovirus. She responded to standard anti-PJP and CMV therapy and was discharged on oral prophylaxis.

Perampanel in the general population and in people with intellectual disability: Differing responses.

Purpose: There is a shortfall of suitably powered studies to provide evidence for safe prescribing of AEDs to people with Intellectual Disability (ID). We report clinically useful information on differences in response to Perampanel (PER) adjunctive treatment for refractory epilepsy between ID sub-groups and general population from the UK Ep-ID Research Register.

Method: Pooled retrospective case notes data of consented people with epilepsy (PWE) prescribed PER from 6 UK centres was classified as per WHO guidance into groups of moderate -profound ID, mild ID and General population.

A community study in Cornwall UK of sudden unexpected death in epilepsy (SUDEP) in a 9-year population sample.

Purpose: Epilepsy-related death, particularly sudden unexpected death in epilepsy (SUDEP), is underestimated by healthcare professionals. One argument that physicians use to justify the failure to discuss SUDEP with patients and their families is that there is a lack of evidence for any protective interventions. However, there is growing evidence of potentially modifiable risk factors for SUDEP; although large-scale trials of interventions are still lacking.

A new clinical variant of the post-malaria neurological syndrome.

Post-malaria neurological syndrome (PMNS) is an uncommon, monophasic illness that occurs within two months following recovery from Plasmodium falciparum (Pf) malaria. Clinical manifestations of PMNS are variable, but published cases uniformly feature neurological and/or psychiatric symptoms without long tract signs. We describe a case of severe brainstem and spinal cord inflammation with paraplegia and sphincter involvement in a 48 year old woman following recovery from a Pf malarial illness.