Greater Manchester STEM Centre

BackgroundDeficits of emotion recognition have received increasing attention in people with Huntington's disease (HD) in the three decades since the discovery of the HD gene. However, the characterisation of such deficits across different disease stages, types of stimuli, and sensory modalities is currently unclear.ObjectiveThis study aimed to provide a comprehensive review of the evidence on emotion recognition deficits in HD gene carriers (both manifest and premanifest) over the three decades since definitive gene testing.MethodA systematic review was carried out from January 1993 to January 2025 across MEDLINE, PsycINFO, Academic Search Complete, and CINAHL (PROSPERO registration: CRD42023398649).ResultsFrom 9735 initial citations, 59 studies were eventually included. In manifest HD, facial recognition of negative emotions such as anger, fear, disgust, and sadness was consistently impaired, whereas happiness and neutral expressions were generally spared. A few auditory studies showed consistent deficits for disgust, fear, and anger, while happiness and sadness appeared less affected. Only preliminary evidence is currently available for deficits involving body language, visual and written vignettes, videos, and olfactory and gustatory tasks. Although sparser, the evidence for premanifest HD suggests that some individuals may develop significant recognition difficulties prior to motor onset, particularly due to early frontostriatal deterioration and white matter disruption.ConclusionsImpairments of facial recognition of negative emotions are reported consistently in manifest HD, while only preliminary results are available for other modalities. The evidence involving premanifest HD is much sparser. Key implications for clinical practice and future research are outlined and discussed.

BackgroundPeople with Huntington’s disease (HD) may experience a wide range of neuropsychological difficulties. Among these, deficits of emotion recognition have received increasing attention over the last few decades. However, the characterisation of such deficits across different disease stages (e.g., manifest v. premanifest) or different types of stimuli and sensory modalities is currently unclear.AimsFollowing the 30th anniversary of the discovery of the HD gene in 2023, the aim of the present study was to shed light on the evidence on emotion recognition deficits in HD accrued over the past three decades.MethodsA systematic review of the literature from January 1993 to January 2024 (PROSPERO registration: CRD42023398649) was carried out across four major databases: MEDLINE, PsycINFO, Academic Search Complete, CINAHL.ResultsFrom an initial return of 9337 citations, 55 studies were considered eligible for inclusion. The majority of these consistently reported significant deficits of emotion recognition in people with manifest HD based on visual tasks involving facial stimuli. Preliminary evidence was also found for deficits based on emotional body language stimuli as well as auditory, olfactory, and gustatory tasks. The literature involving emotion recognition in people with premanifest HD was instead found to be sparser and still inconclusive.ConclusionsThe evidence from the last 30 years consistently supports the presence of deficits of identification of emotions from facial stimuli in manifest HD. However, further investigations are warranted to clarify whether such impairments also affect other sensory modalities as well as individuals at the premanifest stage of the condition.

In recent times, clinical negligence claims against National Health Service hospitals have doubled, with 8% of claims being made due to "failure to warn/informed consent." This study aimed to assess the current compliance of the neurosurgical division within a large tertiary neuroscience center with the national legal framework and professional guidelines around the issue of surgical consent and to develop strategies to improve the consent process. Electronic patient records (EPR) were accessed to collect demographic data and information regarding the surgical procedures. Telephone questionnaires were carried out. Neurosurgical registrars were interviewed. The author met with the trust's Legal team, the neuropsychology lead, and the trust's consent lead. Fifty-eight patients were included in the analysis. Of the respondents to the questionnaire, 98% felt that they were adequately informed during the consent process. When consenting patients, all registrars felt that they explained the reason for the procedure, detailed benefits, and major risks, including uncommon and rare risks. However, 50% admitted to not specifically discussing the postoperative recovery time or alternatives. Only 15% admitted to documenting on the EPR or through a letter to the patient's General Practitioner. Informed consent is a delicate moment of communication between a clinician and the patient. Regular training and good communication skills help staff to focus on the most relevant aspects of consent, which should be delivered in an appropriate environment and with family support. Audio-visual aids can support the process but do not replace good communication.

ObjectivesBotulinum Toxin for post craniotomy head pain is not an established therapy. One small case series commented that it was effective in 3 patients.1 We report our single centre experience.DesignWe performed a retrospective review of case notes of all patients treated with Botox for persistent post craniotomy or craniotomy head pain at Greater Manchester Neurosciences Centre, UK. All patients treated with Botulinum Toxin from 2014 at Greater Manchester Neurosciences Centre are listed on a central database, irrespective of indication. From the database 11 patients were identified who had received Botulinum Toxin A for post craniotomy scalp pain.SubjectsEleven (n=11) patients were identified. The mean age was 43 year. Of the 11 patients; 6 were women and 5 were men. The majority of patients underwent surgery for medically intractable epilepsy (n=7).MethodsInformation obtained: -Demographics -Date, indication and type of initial cranial neurosurgery Headache Characteristics (site, descriptors, duration, frequency) -Previous medical therapy -The presence of Epileptic Seizures -Frequency, dose and site of Botulinum Toxin injection -Response.ResultsA majority of patients (10/11) reported improvement in headache burden with 6 patients reported being pain free with no further daily headache. The duration of this effect varied from 4 to 12 weeks. No specific headache characteristic (site, descriptor) predicted a favourable response. Of the remaining 5 who continue to report daily head pain, 4 felt the burden was more manageable. One patient felt there was no response. Of the 5 patients with persistent headaches, 3 were chronic epileptics with ongoing seizures, compared to only 1 patient in the responder group.ConclusionsThis case series is limited by small numbers and no objective headaches made prior or post therapy. Botulinum Toxin A appears to have a beneficial effect in the management of chronic post craniotomy head pain within this small sample with complete abolition of pain in 55%. The presence of ongoing epileptic seizures may indicate a poor response. Further controlled studies are warranted.

A 42 year old female presented with a one year history of gait problems, slowing of movement and intermittent dystonic posturing of her left foot. She was diagnosed with young onset Parkinson’s disease and responded well to Levodopa, with early peak dose dyskinesia and motor fluctuations. She later developed behavioural changes in the form of impulsivity, hypersexuality, hoarding behaviours and obsessive thoughts. She died 3 years after diagnosis following a fall which resulted in an acute subdural haemorrhage. Her post mortem histopathology demonstrated pathology in keeping with a hybrid form of tauopathy sharing features of both corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP). Our patient’s young age of onset, Levodopa responsiveness and development of dyskinesia are very unusual features of CBD/PSP. Her behavioural abnormalities, initially interpreted as dopamine dysregulation/impulse control disorder, were consistent with behavioural features of frontotemporal dementia seen in degenerative tauopathies. This case exemplifies the challenges in making accurate ante mortem diagnoses given the marked clinical heterogeneity of CBD.

BackgoundNeurovascular complications of sarcoidosis are rare, with <20 published cases of intracerebral haemorrhage. We describe a case of spontaneous cerebral bleeding following pulsed steroid therapy for neurosarcoidosis.Case presentationA 41-year-old Caucasian woman had a 3 year history of probable relapsing neurosarcoidosis with inflammatory cerebrospinal lesions treated with infliximab and prednisolone. She was admitted with worsening paraparesis and urinary dysfunction. Spinal MRI confirmed a new thoracic lesion and she received 3 days of intravenous methylprednisolone (1 gram/day). Day 1 post-treatment she developed dense left hemiplegia and dysarthria. Brain imaging demonstrated acute right basal ganglia haematoma with surrounding subacute changes. CT angiography showed no evidence of aneurysm, vascular malformation or angiitis. She had been normotensive throughout her admission and review of previous imaging did not identify lesions in the area. She is currently undergoing rehabilitation.ConclusionVasculopathy in neurosarcoidosis results from granulomatous destruction of vessel walls, perivascular inflammation and/or steroid-induced collagen fragility. This case highlights an under-recognised and serious complication that may occur as a result. Aggressive disease suppression via immunomodulatory treatment may help minimise the risk of haemorrhagic events.

Pain is a key unmet need and a major aspect of non-motor symptoms of Parkinson's disease (PD). No specific validated scales exist to identify and grade the various types of pain in PD. We report an international, cross-sectional, open, multicenter, one-point-in-time evaluation with retest study of the first PD-specific pain scale, the King's PD Pain Scale. Its seven domains include 14 items, each item scored by severity (0-3) multiplied by frequency (0-4), resulting in a subscore of 0 to 12, with a total possible score range from 0 to 168. One hundred seventy-eight PD patients with otherwise unexplained pain (age [mean ± SD], 64.38 ± 11.38 y [range, 29-85]; 62.92% male; duration of disease, 5.40 ± 4.93 y) and 83 nonspousal non-PD controls, matched by age (64.25 ± 11.10 y) and sex (61.45% males) were studied. No missing data were noted, and floor effect was observed in all domains. The difference between mean and median King's PD Pain Scale total score was less than 10% of the maximum observed value. Skewness was marginally high (1.48 for patients). Factor analysis showed four factors in the King's PD Pain Scale, explaining 57% of the variance (Kaiser-Mayer-Olkin, 0.73; sphericity test). Cronbach's alpha was 0.78, item-total correlation mean value 0.40, and item homogeneity 0.22. Correlation coefficients of the King's PD Pain Scale domains and total score with other pain measures were high. Correlation with the Scale for Outcomes in PD-Motor, Non-Motor Symptoms Scale total score, and quality of life measures was high. The King's PD Pain Scale seems to be a reliable and valid scale for grade rating of various types of pain in PD.

Publication in peer-reviewed journals of work presented in abstract form at clinical academic meetings is important, given that under-reporting of research findings may distort the published literature and constitute research misconduct.1 A systematic review suggests that only around 30% of abstracts submitted to biomedical meetings achieve publication.1 The fate of abstracts presented at neurology meetings in the UK, and factors associated with subsequent publication, have not to our knowledge been studied. We performed a PubMed search of titles, first and last authors of abstracts presented at Association of British Neurologists (ABN) meetings between 2007 and 2009. An independent search of the abstracts from one ABN meeting showed excellent inter-rater reliability (Cohen's κ=0.870; p<0.0001). The …

We describe the clinical features of the first UK family with the recently described autosomal dominant cerebellar ataxia, deafness and narcolepsy associated with mutations in exon 21 of the DNMT1 gene. Only four other families have been described Worldwide.The proband presented at the age of 53 years with a ten year history of unsteadiness and episodes of emotionally induced cataplexy. A cerebellar syndrome with accompanying ptosis, myoclonus and mild long–tract signs were notable on examination.The patient's father was said to have had epilepsy and deafness. Examination of two other of the patients siblings revealed two other affected individuals (aged 58 and 60 years) with similar clinical features but with varying degrees of additional cognitive disturbance and optic atrophy. In addition, investigation of two of the offspring of one of the affected siblings revealed problems with cataplexy from their 20s.MR Imaging of the proband revealed mild generalised involutional changes, EEG interictal epileptiform discharges, multiple sleep latency testing, neurophysiology and a muscle biopsy were within normal limits. Imaging of the more clinically affected siblings revealed more substantial cortical changes.Sequencing of exon 21 of the DNMT1 gene revealed the previously described Ala570Val mutation.