Scottish Intercollegiate Guidelines Network Guidance on Dementia: The Investigation of Suspected Dementia (SIGN 168) with Focus on Biomarkers-Executive Summary.

This is an executive summary of the recent guidance produced by the Scottish Intercollegiate Guidelines Network (SIGN) dementia guideline group with regards to the investigation of suspected dementia. This is a sub-section of the broader SIGN 168 guideline released in November 2023. The guideline group included clinicians with expertise in Old Age Psychiatry, Neurology, Radiology, and Nuclear Medicine supported by colleagues from the SIGN and Healthcare Improvement Scotland teams.

Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.

The advent of clinical trials in myotonic dystrophy type 1 (DM1) necessitates the identification of reliable outcome measures to quantify different disease manifestations using minimal number of assessments. In this study, clinical correlations of mean masseter volume (mMV) were explored to evaluate its potential as a marker of muscle involvement in adult-onset DM1 patients. We utilised data from a preceding study, pertaining to 39 DM1 patients and 20 age-matched control participants.

Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1.

Abnormalities of sleep are common in myotonic dystrophy type 1 (DM1), but few previous studies have combined polysomnography with detailed clinical measures and brain imaging. In the present study, domiciliary polysomnography, symptom questionnaires and cognitive evaluation were undertaken in 39 DM1-affected individuals. Structural brain MRI was completed in those without contra-indication (n = 32).

Substantia nigra micro-haemorrhage causing ipsilateral unilateral Parkinsonism and abnormal dopamine transporter scan uptake.

Parkinsonism is a commonly seen movement disorder syndrome with neurodegenerative and non-neurodegenerative causes. Presynaptic dopamine transporter (DaT) single-photon emission computed tomography (SPECT) imaging is the most commonly used imaging technique in clinical practice to differentiate degenerative Parkinson's disease (PD) and PD plus syndromes from other causes such as essential tremor and drug-induced parkinsonism. This can help identify the patients who would benefit from medical therapy due to underlying pre-synaptic dopaminergic deficits.

Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats.

Background: Few adequately-powered studies have systematically evaluated brain morphology in adult-onset myotonic dystrophy type 1 (DM1).

Objective: The goal of the present study was to determine structural brain differences between individuals with and without adult-onset DM1 in a multi-site, case-controlled cohort. We also explored correlations between brain structure and CTG repeat length.

Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight.

Central nervous system involvement in myotonic dystrophy type 1 (DM1) is associated with cognitive deficits, impaired social performance and excessive somnolence, which greatly impact quality of life. With the advent of clinical trials in DM1, there is a pressing need to identify outcome measures for quantification of central symptoms that are feasible and valid. In this context, we sought to evaluate neuropsychological and self-reported measures currently recommended by expert consensus, with particular reference to their specificity for central nervous system involvement in a moderate-sized DM1 cohort.

Balint syndrome (chronic visual-spatial disorder) presenting without known cause.

Balint's syndrome is a rare disorder characterized by a triad of simultanagnosia, optic apraxia, and ocular apraxia. The syndrome manifests when there is an injury to the posterior parietal and occipital lobes and is often bilateral. Several causes of this syndrome were published in the literature, such as trauma, infarctions, infections, tumors, and pre-eclampsia.

Rare case of atypical parkinsonism: why family history is important.

We discuss the clinical presentation and assessment of a middle aged previously fit and well man who presented with two episodes of syncope to the cardiologists followed by the development of a rapidly progressive parkinsonian syndrome a couple of years later, which was not responsive to standard dopaminergic replacement therapies. Magnetic resonance imaging scan of the brain was normal and a DAT SPECT scan showed reduced dopamine uptake in the basal ganglia. On further enquiry, a family history of a similar presentation in his first cousin was elicited and that cousin had tested positive for a mutation in the PRNP gene.

Imaging and clinical findings in a case of linear scleroderma en coup de sabre.

We present the case of a 58-year-old female presenting with acute onset headache and decrease in left-sided facial sensation. The patient's background included diabetes Type 2, hypertension, migraine, anxiety with depression and scleroderma in her childhood. Imaging revealed foci of right frontal calcification and confluent white matter changes, reported as sequelae of a previous ischaemic episode.

The Guillain-Mollaret triangle in action.

The Guillain-Mollaret triangle comprises the ipsilateral red nucleus in the midbrain, the inferior olive in the medulla and the contralateral dentate nucleus in the cerebellum: together, these form the dentato-rubro-olivary pathway. Pathology in this triangle disinhibits (and so activates) the inferior olivary nucleus. The olivary nucleus then hypertrophies and its rhythmical discharges may manifest clinically as oculopalatal tremor.

Melorheostosis causing lumbar radiculopathy: a case report and a review of the literature.

Background Context: Melorheostosis is a rare sclerosing bone disorder with a predilection for the appendicular skeleton. Involvement of the spine is infrequent and largely asymptomatic. Surgical treatment for spinal involvement is therefore uncommon with only one reported case of lumbar fusion for painful lumbosacral melorheostosis.

Anatomical surgical planning for oral and oropharyngeal primary carcinoma combined with adjuvant treatment where indicated is associated with improved local control.

We aimed to find out whether surgical tactics that lead to a reduction in tumour-involved surgical margins also improve local control. We retrospectively reviewed a consecutive case series (n=162) of previously untreated patients who had operations for squamous cell carcinoma (SCC) of the oral cavity or oropharynx. Extensive use was made of computed tomographic multiplanar imaging to plan primary resections.

Involved surgical margins in oral and oropharyngeal carcinoma-an anatomical problem?

A previous audit conducted in the West of Scotland (WoS) suggested that anatomical factors accounted for a substantial proportion of invaded surgical margins after resection of an oral or oropharyngeal squamous cell carcinoma (SCC). Since then a number of technical improvements have taken place, the most important of which has been advanced digital imaging that has enabled better surgical planning. In this study we compare the incidence of involved surgical margins in a recent group with those found in the earlier audit.