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Abstracts / Journal of Clinical Neuroscience 21 (2014) 2033–2058

vestibulo-ocular reflex (eVOR) were analyzed to probe the latency and fidelity of MLF axonal conduction. Using a semi-automated technique, the MLF and T2-visible brainstem lesions involving the central vestibular pathways were defined by high-resolution MRI. White matter integrity was determined by diffusion-weighted imaging metrics. INO was associated with a T2-visible lesion within the MLF in all cases. Vestibular root entry zone (VREZ) lesions were observed in five patients (three bilateral, two unilateral). eVOR onset latency was positively correlated with MLF lesion length (left: r = .66, p = .004; right: r = .75, p = .001). Mathematical modelling estimated mean conduction velocity (± standard deviation) within MLF lesions of 2.72 (± 0.87) m/s. eVOR onset latency correlated with normalized axial diffusivity (r = .66, p < .001) and fractional anisotropy (r = .44,p = .02) after exclusion of cases with ipsilateral VREZ lesions. Combined neurophysiological and imaging analysis of the MLF in patients with INO provides an opportunity to study the functional impact of MS lesions within the MLF, and indirectly distinguishes demyelination from remyelination. The development of composite in vivo biomarkers of axonal and myelin integrity will play a crucial role in assessing efficacy of novel reparative therapies in MS.

GlaxoSmithKline, Brentford, Middlesex, UK). The case highlights the characteristic features of post-vaccinal myelitis and raises some interesting issues. There were no other precipitating factors and extensive infection and other etiological screening was unremarkable. The patient responded well to corticosteroids and rehabilitation. There was a lymphocytic pleocytosis on cerebrospinal fluid analysis and a raised opening pressure along with increased body temperature and normal initial MRI of the spine, despite having signs suggestive of a upper thoracic myelopathy for 1 week. This led to extensive investigations for an infective cause. Spinal MRI changes can lag behind clinical signs and symptoms of myelopathy and a repeat scan a week later showed three distinct areas of cord signal abnormalities involving the cervical and thoracic cord. Fever can be a part of an inflammatory response but does not necessarily reflect an infective etiology. Vaccinations are important but in rare cases serious neurological sequelae can occur. http://dx.doi.org/10.1016/j.jocn.2014.06.082

69. Neuropathological, imaging and clinical features of a patient with neurofibromatosis type 1 and multiple sclerosis Karmen Wai a, Peter Blumbergs b, Mark Slee a

http://dx.doi.org/10.1016/j.jocn.2014.06.080

a

67. Posterior choroidal artery stroke with infarction of choroid plexus: A rare manifestation of a common entity Jacqui-Lyn Saw, David Prentice, Ganesh Ramaseshan, Andrew Thompson

b

Flinders Medical Centre, SA, Australia South Australian Brain Bank, SA, Australia

Posterior choroidal artery (PChA) infarction is a thalamic infarct syndrome with specific radiological and clinical findings. The posterior choroidal artery has two main divisions, lateral and medial. We describe two patients with PChA infarction who presented with symptoms initially suggestive of anterior circulation ischaemia. Patient 1 is a 64-year-old right-handed man who presented with right-sided weakness, paraesthesia and a 24 h history of word finding difficulty which spontaneously resolved. MRI with diffusion weighted imaging (DWI) demonstrated acute infarcts involving the pulvinar of left thalamus and adjacent choroid plexus, and periventricular white matter adjacent to the left lateral ventricle. Patient 2 is a 57-year-old right-handed man with right upper and lower limb clumsiness and altered sensation. Subsequent MRI with DWI demonstrated an area of infarction affecting the sub-ependymal region along the lateral aspect of the left lateral ventricle, and approximating the posterior body and tail of the caudate nucleus. PChA infarction is rare due to multiple anastamoses. Choroid plexus infarcts are usually clinically silent. There have only been a few reported cases of choroid plexus infarction. We describe two patients with lateral PChA infarction. This is a rare stroke syndrome due to multiple anastamotic connections and produces interesting radiological findings, particularly that of choroid plexus infarction. PChA infarction has variable clinical presentations and can mimic an anterior circulation stroke.

We present detailed histopathological and clinical characterisation of a young male patient with neurofibromatosis type 1 (NF1) and primary progressive multiple sclerosis (MS) and discuss the putative basis for association between these diseases. A young man with typical cutaneous stigmata of NF1 presented in his late 20s with a progressive myelopathy and pancerebellar disturbance. MRI demonstrated multifocal T2-weighted hyperintensities in the hemispheres, brainstem and spinal cord. Investigations revealed cerebrospinal fluid oligoclonal immunoglobulin G bands, and absent visual evoked responses. Clinical progression was rapid and nonremitting. Within 4 years he was wheelchair-bound. He died following an aspiration event 6 years after presentation. Histopathologically, extensive multifocal, and sometimes confluent, areas of demyelination were seen with perivascular inflammation and astrogliosis in the hemispheres and spinal cord. Abundant corpora amylacea deposition in areas of white matter degeneration was present. NF1 is an autosomal dominant neurocutaneous disorder caused by mutation in the Neurofibronin gene. It is unclear if the concurrence of MS and NF1 occurs by chance but early hypotheses of causal associations followed the discovery that the oligodendrocyte myelin glycoprotein gene is embedded within the NF1 gene. Approximately 27 patients with MS and NF1 have been described but none with detailed neuropathologic data, to our knowledge. In this patient, the rapidly progressive phenotype, severity of tissue injury histopathologically and extensive presence of corpora amylacea are of interest. Clinicians should be vigilant for the development of central nervous system demyelinating disease in patients with NF1.

http://dx.doi.org/10.1016/j.jocn.2014.06.081

http://dx.doi.org/10.1016/j.jocn.2014.06.083

Royal Perth Hospital, Perth, WA, Australia

68. Acute meningomyelitis following diphtheria, pertussis booster vaccination in a young adult Abhishek Malhotra, Christine Wools, Paul Talman

tetanus,

70.Vitamin R therapy in scleromyositis: A novel approach for a rare disorder Jacqui Saw, Wai Leong, Mina John, David Nolan, Kevin O’Connor

Geelong Hospital, Geelong, VIC, Australia

Royal Perth Hospital, Perth, WA, Australia

We report a case of severe post-vaccinal menigomyelitis in a 30-year-old man with symptom onset a week after of administration diphtheria, tetanus, pertussis booster vaccination (Boostrix;

L.W. is a 48-year-old right handed female with a scleroderma overlap syndrome (scleromyositis) manifested by systemic sclerosis (skin and gastrointestinal involvement) with a predominantly prox-

Abstracts / Journal of Clinical Neuroscience 21 (2014) 2033–2058

imal necrotizing myositis. It is likely that this is a rare polymyositis/ scleroderma overlap or anti-synthetase syndrome. She is persistently antibody negative for U1RNP, PmScl, Ro, La, Jo-1 and Ku antibodies. Antibodies to smooth muscle and skeletal muscle are also negative. Her symptoms were treatment resistant to immunosuppression until B cell depletion with rituximab. We discuss her course and prognosis. The patient presented in 2008 with progressive gastrointestinal symptoms with malabsorption, eventually requiring total parenteral nutrition. Total parenteral nutrition resulted in improved general condition with weight gain. She was being treated with combination of methotrexate and prednisolone when she developed insidiously progressive proximal weakness, with parallel progression of skin thickening. Peak creatine kinase (CK) was recorded at 1800 u/L. There was no improvement in muscle strength with steroid reduction. Electromyogram in 2010 suggested a proximal predominant necrotizing myositis. We postulate she has a scleroderma overlap syndrome. She was treated with rituximab in January 2012. L.W. was monitored clinically with CK levels. B cell depletion was confirmed with CD20 count of <1%. Initially, she had severe disability with Medical Research Council (MRC) grade 3 upper and lower limb power proximally. She improved with MRC grade 4/ 4+ power proximally. CK normalised. The skin also improved, from widespread trunk and limb involvement, to minor skin thickening in the hands. Prednisolone dose reduction was successful over 2012 to 2013. Methotrexate was also reduced from 20 mg weekly to 15 mg. At 18 months following rituximab therapy, L.W. had increase in CK to 330 u/L, with early B cell recovery demonstrated on lymphocyte subsets. Rituximab therapy for systemic sclerosis is increasingly utilized; however this is a unique case of a scleroderma-myositis overlap syndrome achieving impressive results with B cell depletion and subsequent redosing. http://dx.doi.org/10.1016/j.jocn.2014.06.084

71. Modification of transcranial magnetic stimulation-evoked potentials by cerebellar theta burst stimulation Graeme Hammond-Tooke a,b, Allanah Harrington a a b

University of Otago, Dunedin, Otago, New Zealand Dunedin Hospital, Dunedin, Otago, New Zealand

Repetitive transcranial magnetic stimulation (rTMS) is a potential treatment for neurological disease. Combined transcranial magnetic stimulation and electroencephalography (TMS-EEG) is a relatively new approach to the study of cortical excitability in neurological disease, with the N100 component of the TMS-evoked potential being a marker of intracortical inhibition. Intermittent theta burst stimulation (iTBS) of the cerebellum increases corticospinal excitability in the contralateral primary motor cortex and continuous theta burst stimulation (cTBS) decreases excitability, as reflected in motor evoked potentials (MEP). The purpose of this study was to compare the effects of cTBS on the MEP and N100 potential. TMS-EEG was carried out in 16 healthy volunteers, aged 21–30 years. In each session, MEP were recorded from the left motor cortex. Single TMS pulses were then applied before and after 30 Hz iTBS, cTBS or sham stimulation of the right cerebellar hemisphere stimulus intensity of 80% or 90% of active motor threshold. Further MEP were then recorded. EEG recordings were analysed offline and independent component analysis was used to remove artefact. Mean N100 amplitudes after the three treatments were compared using mixed model analysis of variance, with the pre-treatment N100 amplitudes as covariates. Using a stimulus intensity of 90%, there was an effect of TBS protocol on amplitude of the resting MEP, which was significantly lower after cTBS than sham TBS, F(2, 14) = 4.28, p = 0.035. Cortical silent period (CSP) was increased following iTBS, compared to sham,

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F(2, 13) = 4.87, p = 0.026), but were not significant for 80% TBS. Combining results of 80% and 90% stimulus intensities, the mean N100 amplitude was significantly greater after iTBS than sham TBS, F(2, 27) = 3.52, p = 0.044. The augmentation of the N100 potential by iTBS is consistent with the increase in the CSP, also a marker of inhibition. Unexpectedly, the reduction in the amplitude of the resting MEP by cTBS was not accompanied by an increase in either the CSP or the N100 amplitude suggesting it arises from decreased facilitation rather than increased intracortical inhibition. These findings are important for predicting the effects of cerebellar rTMS in disease. http://dx.doi.org/10.1016/j.jocn.2014.06.085

72. Loss of ATP13A2 (PARK9) leads to mitochondrial dysfunction Jin-Sung Park, Brianada Koentjoro, Carolyn Sue Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St. Leonards, NSW, Australia Kufor-Rakeb syndrome (KRS, Mendelian Inheritance in Man [MIM] #606693) is a form of autosomal recessive, juvenile or early-onset, levodopa-responsive parkinsonism that has been associated with mutations in ATP13A2 (PARK9, MIM#610513). We identified novel compound heterozygous mutations, c.3176T>G (p.L1059R) and c.3253delC (p.L1085WfsX1088), in two siblings of Asian descent with KRS and reported the pathogenic effects of the mutations at protein/mRNA levels including mislocalisation of the mutant protein to endoplasmic reticulum, abnormal proteasomemediated degradation of the mutant protein and nonsense-mediated mRNA decay. Our aim was to examine the effect of mutations in ATP13A2 on mitochondrial function. We assessed mitochondrial function by measuring mitochondrial membrane potential, reactive oxygen species (ROS) production, adenosine triphosphate (ATP) production, mitochondrial branching and degradation of dysfunctional mitochondria using KRS patient-derived human olfactory neurosphere (hONS) cultured cells. The patient hONS showed lower labelling indexes for JC-1 and TMRM staining, indicating lower mitochondrial membrane potential (Dwm) while no changes were detected in ROS production. Interestingly, H2O2 treatment induced a higher level of ROS production and caused increased cell death in the patient cells compared to the negative control. Also, the patient cells showed a significant reduction in ATP production. There was no difference observed between the patient and control cells in mitochondrial mass and mitochondrial branching under normal growing conditions and Dwm-dissipated conditions. Our findings suggest mutations in ATP13A2 cause mitochondrial dysfunction in KRS. Further investigation to identify the pathogenic mechanism(s) by which mutant ATP13A2 impairs mitochondrial function is warranted. http://dx.doi.org/10.1016/j.jocn.2014.06.086

73. A unique case of central nervous system immune reconstitution inflammatory syndrome: Examination of antigen specific T cell immunity Kevin D.J. O’Connor a, Niamh M. Keane b, David Nolan a,b, Wai Leong a, Mina John a,b a Royal Perth Hospital, Combined Neuroimmunology Clinic, Perth, WA, Australia b Institute for Immunology & Infectious Diseases, Murdoch University, Murdoch, WA, Australia