IMSANZ NZ 2021
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Eileen McManus

Dr Eileen Mc Manus is an Advanced Trainee in Neurology working at Waikato General Hospital, Hamilton, New Zealand. She was born and trained in Ireland, gaining both MBChB and Neuroscience MSc from Trinity College Dublin 2013. She moved to New Zealand in 2015, working first in Thames Hospital and then Waikato General Hospital. In her spare time, she is an avid hiker and loves the outdoors including landscape photography.

Perry’s Syndrome: A Case of Atypical Parkinsonism with Confirmed DCTN1 Mutation.​
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Perry’s syndrome is a rare neurodegenerative condition characterised clinically by depression, sleep disturbance, central hypoventilation and parkinsonism. Perry’s syndrome is a TAR DNA-binding protein 43 (TDP-43) proteinopathy associated with mutated dynactin-1 protein, inherited in an autosomal dominant manner. Several pathogenic mutations in exon 2 in the dynactin 1 gene have been identified; p. F521, p. G67d, p. G71R, p. G71E, p. G71A, p. T72p, p. Q74p and p. Y78C. We present the second known case Perry’s Syndrome with confirmed DCTN1 mutation (p. Y78C) in New Zealand, who initially was thought to have a depressive illness. Perry syndrome should be considered in the differential diagnosis of young parkinsonism especially if there is family history of sleep disorders, weight loss and/or marked depression

Extended Interval Dosing Natalizumab and Cognitive Function in Relapsing Remitting Multiple Sclerosis Patients: A Retrospective Audit
Background: Cognitive impairment is frequently reported in Relapsing Remitting Multiple Sclerosis (RRMS). Multiple cognitive domains including processing speed, episodic memory and executive function can be impaired. Natalizumab (NTX) is a well-established therapy which has been shown to reduce annualised relapse rate (ARR) and cognitive impairment in RRMS. It is usually administered at 4 weekly intervals known as Standardised Interval Dosing (SID). In recent years, Extended Interval Dosing (EID) has been introduced to reduce the risk of progressive multifocal encephalopathy (PML). Although EID NTX has been shown to be non-inferior to SID NTX in reducing ARR, the impact on cognition has not yet been studied. 

Objective: To investigate whether EID NTX improves cognition in RRMS. 

Methods: A retrospective, monocentric single arm analysis of 34 RRMS patients on EID NTX was performed. A neuropsychological assessment was performed pre and (on average 28 months) post NTX infusion. A battery of 20 cognitive screening tests along with the Hospital Anxiety and Depression Scale (HADS) were applied at both neuropsychological assessments. A univariate analysis of pre and post NTZ neuropsychological test scores was performed. Raw data was converted into Z scores. A non-parametric Wilcoxon test was applied (p<0.05).  

Results: 14/20 cognitive parameters showed improvement with 5/14 reaching statistical significance namely: Trails A (visual attention/information processing speed), Line-orientation (visual spatial attention), Picture-naming (word finding), Digital-Span (attention, executive function and memory) and Story-recall (memory). Depression and anxiety HADS scores remained unchanged. 

Conclusion: ​Our data suggests that NTX EID leads to an improvement in deficits in executive function, memory, attention and information processing speeds; cognitive domains known to be particularly affected in RRMS patients.  However, an observational prospective analysis is warranted.

Long Term Outcome of 200 Patients Referred to A First Seizure Clinic​
Aim: 1) To determine what proportion of our first seizure referrals reflected true unprovoked first seizures or epilepsy, 2) To assess the diagnostic accuracy of our First Seizure Clinic by quantifying risk of subsequent seizures in our First Seizure Clinic cohort. 

Methods: We retrospectively reviewed the medical records of 200 patients referred to the First Seizure Clinic between May 2014 and December 2015, with review of clinical notes and telephone follow up at 28 months post diagnosis. 

Results: Of the 200 patients referred to the first seizure clinic, 181 attended. At the initial assessment 22% (n=39) of these patients were diagnosed with epilepsy, with most of these patients (59%) found to have a history of previous seizures.  28% (n=50) were diagnosed with a first seizure, of which 28% were labelled as provoked seizures. 38% (n=69) of the patients received another diagnosis (syncope, NEAD, migraine or parasomnia) and 13% (n=23) were labelled as indeterminable. At 28 months follow up, 22% (n=11) of patients who received a diagnosis of first seizure subsequently received a diagnosis of epilepsy. In the remaining groups only 5 (5%) patients were diagnosed with epilepsy (of these 3 were in the indeterminable group). 

Conclusions: Our study shows that approximately half of the patients referred to a First Seizure Clinic had not experienced a seizure but were given an alternative diagnosis. Secondly, our study indicates that the risk of seizure reoccurrence following a first seizure is quite low (22%). We believe this because a substantial proportion of the patients (22%) were diagnosed with epilepsy already at the first assessment. The high proportion of patients being diagnosed with epilepsy was mainly due to a history of previous seizures. Thirdly, patients who were given an alternative diagnosis at the first assessment had a low probability (5%) for seizure recurrence.

References:  
  1. England, M.J., Liverman, C.T., Schultz, A.M. and Strawbridge, L.M., 2012. Epilepsy across the spectrum: Promoting health and understanding.: A summary of the Institute of Medicine report. Epilepsy & Behavior, 25(2), pp.266-276.
  2. Louis, E.K.S. and Cascino, G.D., 2016. Diagnosis of epilepsy and related episodic disorders. CONTINUUM: Lifelong Learning in Neurology, 22(1), pp.15-37.
  3. Firkin, A.L., Marco, D.J., Saya, S., Newton, M.R., O'Brien, T.J., Berkovic, S.F. and McIntosh, A.M., 2015. Mind the gap: multiple events and lengthy delays before presentation with a “first seizure”. Epilepsia, 56(10), pp.1534-1541.
  4. Hauser, W.A. and Beghi, E., 2008. First seizure definitions and worldwide incidence and mortality. Epilepsia, 49, pp.8-12.​ 
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