011 Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C
We report the case of a 43-year old man with adult-onset drug-resistant epilepsy, cortical myoclonus and bilateral optic neuropathies. Serial MRI scans over a two year period demonstrated the interval devel- opment of bihemispheric stroke-like lesions. Giant somatosensory evoked potentials and short-duration myoclonic jerks with craniocaudal spread on surface-EMG were consistent with cortical myoclonus. Optical coherence tomography showed bilateral symmetric thinning of the nerve fibre layer in the pap- illomacular bundles. Muscle biopsy was non-diagnostic, however next-generation whole mitochondrial gene sequencing identi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Khoo, A., Naidu, S., Wijayendran, S., Merve, A., Bremner, F., Sidhu, M. Tags: Live Poster, 13 May Poster Session 1 Source Type: research
022 Functional genomics and transcriptomics further characterise and potentially improve diagnostic yield of hereditary ataxias
Up to 60–74% of patients with hereditary ataxia (HA) remain undiagnosed even following whole genome sequencing. We leveraged publicly-available -omics data to generate 299 genic features, capturing information about: gene structure/complexity; genetic variation; tissue-specific, cell-specific and tempo- rally-relevant gene expression/co-expression and protein products. Using existing age-of-onset informa- tion, we categorised HA-linked genes as childhood-onset, adult-onset and those overlapping both. By comparing the properties of childhood- and adult-onset genes, we demonstrated: (i) an unexpectedly high short tande...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Chen, Z., Cipriani, V., Zhang, D., Tucci, A., Vestito, L., Smedley, D., Houlden, H., Botia, J., Ryten, M. Tags: Live Poster, 6 May SIG4: Movement Disorders Source Type: research
023 Evaluating a home-based care pathway for people with Parkinsons disease
Conclusions
We have demonstrated acceptability, feasibility and effectiveness of our novel Parkinson’s care pathway.
e.king6@nhs.net|NIHR Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: King, E., Inches, J., Edwards, E., Rideout, J., Whipps, S., Holley, M., Gorst, T., Carroll, C. Tags: Live Poster, 6 May SIG4: Movement Disorders Source Type: research
026 Impulse control disorders in idiopathic REM sleep behaviour disorder and drug-naive Parkinsons disease
Conclusions
This is the first study to demonstrate that patients with iRBD experience ICBs more frequently than patients with drug-naive PD. ICBs should be recognised as common and distinct neuropsychiatric features in iRBD. RBD may additionally represent an important determinant of ICBs in PD.
a.otaiku@nhs.net|NIHR Bursary
38 (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Otaiku, A. Tags: Live Poster, 6 May SIG4: Movement Disorders Source Type: research
028 Cortical sensorimotor representations remain normal in musicians dystonia despite global deficit in dexterity
We report two key findings. First, during the production of individuated finger presses, musicians with dystonia showed a small, but robust loss of motor control. This deficit was characterized by both a reduction in finger individuation ability, and an exaggeration of mirror movements primarily during use of the clinically identified symptomatic hand, but also to a lesser extent during asymptomatic hand use. Second, we found no evidence of disease-related changes in the corresponding finger representa- tions in S1/M1. Our results contradict the view that abnormalities in sensorimotor finger representations play a role in ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Sadnicka, A., Wiestler, T., Butler, K., Edwards, M., Ejaz, N., Diedrichsen, J. Tags: Live Poster, 6 May SIG4: Movement Disorders Source Type: research
067 Negative impact of COVID-19 lockdown on papilloedema and idiopathic intracranial hypertension
Conclusions
There was a 367% increase in emergency shunting to save vision in idiopathic intracranial hypertension following national lockdown. Worsening of papilloedema, weight gain, and detrimental effects on mental health were recorded. Countermeasures should be implemented to minimise harm in this rare disease during future service restrictions and lockdowns.
mark.thaller@nhs.net|ABN Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Thaller, M., Tsermoulas, G., Sun, R., Mollan, S., Sinclair, A. Tags: Live Poster, 13 May Poster Session 1 Source Type: research
071 Motor network remodelling in ALS and PLS
Discussion
Regional brain motor network remodelling in ALS may signify degeneration of inhibitory local circuit functional partitioning, or reflect adaptation and mobilisation of reserves to support motor execution. Replication and validation through standardised imaging protocols and task design offers the potential to refine targets for therapeutic neuromodulation.
eedmond@gmail.com|NIHR Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Edmond, E., Proudfoot, M., Menke, R., Thompson, A., Talbot, K., Stagg, C., Turner, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research
103 Virtual multiple sclerosis (MS) clinics during a global pandemic: the patients perspective
Conclusions
During the COVID-19 pandemic, satisfaction is high with MS review by telephone. A signifi- cant body of patient opinion supports telephone clinics beyond Covid-19. This is influenced by EDSS and distance from clinic.
sramsay03@qub.ac.uk|ABN Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Ramsay, S., Turley, N., Magill, F., Goldsmith, G., McKee, J., Kennedy, F., Droogan, A., Hughes, S., McDonnell, G. Tags: Live Poster, 13 May Poster Session 3 Source Type: research
121 Autoimmune autonomic neuropathy on the Adie spectrum: 'Ross syndrome?
We present an atypical case of such a patient, presenting with added features of cardiovascular autonomic dysfunction.
Our case concerns a 66-year-old female, who experienced progressive stepwise deterioration in the functionality of her autonomic nervous system. Her symptoms began with a left Adie’s pupil, followed by a chronic dry cough and diarrhoea. The onset of anhidrosis and orthostatic hypotension subsequently occurred 30 and 40 years later, respectively.
Autonomic function testing confirmed cardiovascular autonomic failure as well as deficiencies of sudomotor, salivary and tear function. Severe orthostatic hy...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Basgaran, A., McColgan, P., Sacks, B., Oommen, G., Koay, S., Alsukhni, R., Hagen, E. M., Ingle, G., Iodice, V., McNamara, P. Tags: Live Poster, 13 May Poster Session 2 Source Type: research
122 Neurological manifestations of haemophagocytic lymphohistiocytosis
Secondary (acquired) haemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome which can occur in the context of infection, malignancy or rheumatological disease and is associated with high mortality. Early recognition facilitates access to effective biological therapies and engage- ment with specialist MDTs which focus on managing the underlying trigger. Neurological manifestations are associated with poor prognosis but are not well described.
We retrospectively reviewed 40 cases of secondary HLH in UCLH/NHNN; 25 had neurological compli- cations. Median age at onset: 36 years (range 11–79); 8 females...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Brown, R., Amarnani, R., Flower, L., Manson, J., Carr, A. Tags: Live Poster, 13 May Poster Session 2 Source Type: research
127 ACTA1 associated myopathy with neurogenic EMG changes
We describe a proband and her son who have proximal limb and facial weakness and marked hand involvement. A congenital myopathy panel demonstrated two RYR1 variants and the p.Ile289Phe novel variant in ACTA1.
Cases: The proband had initially been diagnosed with SMA following premature birth, late milestones, scoliosis and proximal and distal weakness which was relatively static until age 40. EMG as a child was neurogenic. Her son had poor feeding after birth, delayed motor milestones, intellectual delay, and by his teens, severe facial weakness and distal upper limb wasting particularly the finger flexors and extensors, wi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Blake, J., Manzur, A., Wakeling, E., Shah, S., Muntoni, F., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research
135 CMT with renal impairment: consider a dip
We describe two patients from our neuropathy cohort who have CMT with slowed conduc- tion velocities (CV) and renal involvement and discuss the importance of urine dipstick testing in those without a genetic diagnosis.
Cases: A 19-year-old had deterioration in his running aged 3, required foot surgery aged 10 and scoliosis surgery aged 15. Distal atrophy and weakness with large fibre sensory impairment was evident. At age 12, neurophysiology demonstrated absent SAPs, reduced CMAPs and MCVs of 10–18m/s. Urine dipstick showed proteinuria. Whole genome sequencing demonstrated a previously described p.Cys104Tyr INF-2 mut...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Blake, J., Skorupinska, M., Shah, S., Laura, M., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research
136 Coincidential hydrocephalus in twins with CMT1X
Discussion
Despite the finding of hydrocephalus in both affected twins, further family evaluation confirmed the hydrocephalous not to segregate with the GJB1 mutation. This highlights the importance of detailed phenotype segregation studies before diagnosing an atypical phenotype with genetic diseases. Alterna- tive genetic causes for the hydrocephalus are being sought.
1) Vivekanandam V, Hoskote C, Rossor AM, Reilly MM. CNS phenotype in X linked Charcot- Marie-Tooth disease. J Neurol Neurosurg Psychiatry 2018 Dec 5;90(9).
carolynnedoherty@doctors.org.uk|NIHR Bursary
93 (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Pipis, M., Hosktote, C., Rossor, A., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research
137 Outcome measures in CMT: case examples from the muscle MRI in CMT study
We present three cases illustrating key points from the study and demonstrate an increase in FF at 12 months in one patient each with CMT1X and CMT2A, and over 10 years in a patient with CMT1B.
carolynnedoherty@doctors.org.uk|NIHR Bursary (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Zuccarino, R., Howard, P., McDowell, A., Wastling, S., Laura, M., Thedens, D., Thornton, J., Shy, M., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research
140 Baseline variation in commonly used inflammatory neuropathy clinical outcome measures
Conclusion
Appreciation of magnitude of normal variation is clinically important. Early identification of trends will influence dosing decisions.
ryan
keh@srft.nhs.uk|ABN Bursary
95 (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Keh, R., Lilleker, J., Lavin, T., Gosal, D., Compton, L., Kapoor, M., Carr, A., Lunn, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research
