- Email: [email protected]
32.
Abstracts / Journal of Clinical Neuroscience 21 (2014) 2033–2058
insulin levels were prospectively collected. BMI measurements were compared to a cohort of 100 MND (bulbar and limb) and FTD/ MND patients. bvFTD patients displayed significant abnormalities in all domains of eating compared to AD patients. bvFTD patients had significantly increased carbohydrate intake and SD patients significantly increased sugar intake. Despite increased intake in the FTD groups, their hunger/satiety scores did not differ from the control group. BMI measurements were significantly higher in the FTD and FTD/MND groups than in the MND (bulbar and limb) and control groups. Increased BMI in the bvFTD and SD groups was also significantly associated with abnormal eating behavior. BvFTD patients had significantly increased insulin levels, triglyceride, cholesterol ratios, and lower high-density lipoprotein cholesterol levels compared to controls. Abnormal eating behavior is prominent in bvFTD and SD patients, and is associated with increased sugar and carbohydrate intake, and is not the result of increased hunger and lower satiety. Similar findings have been shown in obese patients, attributed to disinhibition, orbitofrontal pathology and dysfunction of hypothalamic pathways that control appetite, suggesting similar pathways may be affected in FTD. Abnormal eating behavior in FTD is associated with changes in BMI, and a blood metabolic profile similar to that seen in MND. Despite similar pathology however, BMI in all forms of MND appears lower than in FTD. http://dx.doi.org/10.1016/j.jocn.2014.06.044
31. The neuro-ophthalmology of mitochondrial disease with a particular focus on the morphology of the optic nerve head Kate Ahmad a,b, Kimberley Tan a,b, Carolyn Sue a,b a b
Royal North Shore Hospital, St Leonards, NSW, Australia Kolling Institute of Medical Research, St Leonards, NSW, Australia
Mitochondrial diseases are a clinically heterogenous group of disorders that are the result of dysfunction of the mitochondrial respiratory chain. Neuro-ophthalmological signs are a frequent clinical finding in mitochondrial disease. We aimed to establish the presence of neuro-ophthalmological signs in a cohort of 117 patients with mitochondrial disease. We also aimed to look at the optic nerve head in detail to confirm the finding of an increased cup to disc ratio in these patients, as this had been noted anecdotally but not objectively demonstrated. A total of 117 patients from the neurogenetics clinic at Royal North Shore Hospital were included in the initial neuroophthalmology database. Patient notes were analysed retrospectively and the presence of ptosis, external ophthalmoplegia, optic nerve abnormalities, retinal abnormalities, visual acuity and intraocular pressure were noted. Patients were included if they had clinically definite or probable mitochondrial disease using the modified Walker criteria. Ophthalmic findings were then correlated with the clinical phenotype and the genotype. We then performed optical coherence tomography (OCT) on 54 of the patients and quantitatively measured the cup to disc ratio and cup volume. These values were compared to normal data. Our results confirmed that neuroophthalmological abnormalities are commonly found in patients with mitochondrial disease. Eighty-one percent of patients had at least one neuro-ophthalmological abnormality. Retinal pigmentary abnormalities were found frequently, affecting 50.9% of patients; ptosis was also common, affecting 49.6%. External ophthalmoplegia and optic disc abnormalities (including an increased cup to disc ratio) were also seen in nearly half of patients. Visual loss was relatively uncommon, and notably only one patient had severe visual loss worse than 6/60. The OCT data confirmed increased cup to disc ratio and cup volume in patients with mitochondrial disease when compared with normal controls. Neuro-ophthalmological
2043
examination is abnormal in the majority of patients with suspected or confirmed mitochondrial disease. Both retinal and optic nerve abnormalities may be asymptomatic and need to be specifically sought. Our patient group showed a high incidence of optic nerve head cupping, and we propose that this be considered as a potential marker for mitochondrial disease. Our results also show a low incidence of significant visual loss, except in those patients where it is the defining characteristic of the mutation. Patients with other mitochondrial syndromes can be reassured that significant visual loss as a result of their disease is uncommon. http://dx.doi.org/10.1016/j.jocn.2014.06.045
32. Baseline peri-infarct N-acetylaspartic acid concentration correlates with subsequent white matter atrophy after ischaemic stroke Nawaf Yassi a,b, Bruce Campbell a,b, Patricia Desmond c, Mark Parsons d, Stephen Davis a,b, Andrew Bivard a,b a Department of Medicine, Melbourne Brain Centre at Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia b Department of Neurology, Melbourne Brain Centre at Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia c Department of Radiology, The Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia d Priority Research Centre for Neuroscience and Mental Health, University of Newcastle and Hunter Medical Research Institute, Newcastle, NSW, Australia
Longitudinal changes in cerebral volume have been described in ischaemic stroke and may correlate with long-term outcome. We tested the hypothesis that baseline peri-infarct concentration of the neuronal metabolite N-acetylaspartic acid (NAA) correlates with subsequent cerebral volume change after stroke. Patients with supratentorial ischaemic stroke underwent 3 Tesla MRI within 1 week and at 1 and 3 months from onset. Structural imaging involved a T1-weighted axial magnetization prepared rapid gradient echo (1 mm slices, repetition time 1.9 s, echo time 2.82 ms). NAA estimation was performed at baseline using single-voxel spectroscopy (3 3 3 cm voxels, echo time 30 ms) with the voxel placed in the peri-infarct region determined by visual assessment of the diffusion-weighted image. Quantitative spectroscopic analysis was performed in LCmodel. Cerebral volume change was determined between the 1 and 3 month scans due to the effects of oedema on baseline scans. Grey and white matter volume, normalised for head size, were determined using SIENAX (part of FSL). The result was validated using Freesurfer. Fifteen patients were included in the analysis. Mean age was 69 years (interwquartile range [IQR] 62–78). Median baseline National Institutes of Health Stroke Scale score was 10 (IQR 5–14). Mean peri-infarct NAA concentration was 6.2 mM (IQR 5.1–7.6) versus 7.0 mM (IQR 6.0–8.0) in the contralateral hemisphere (p < 0.05, paired t-test). Age was inversely correlated with baseline grey matter volume (r = 0.84, p < 0.001) but not with white matter volume. Lower concentrations of baseline peri-infarct NAA were significantly associated with white matter volume loss between 1 and 3 months (r = 0.69, p < 0.005) but not with grey matter volume change. There was a similar trend using Freesurfer (r = 0.51, p = 0.06) which was driven by changes in the stroke hemisphere (r = 0.69, p = 0.007). Estimation of peri-infarct NAA may predict subsequent white matter atrophy. Correlation with clinical endpoints is required. http://dx.doi.org/10.1016/j.jocn.2014.06.046
insulin levels were prospectively collected. BMI measurements were compared to a cohort of 100 MND (bulbar and limb) and FTD/ MND patients. bvFTD patients displayed significant abnormalities in all domains of eating compared to AD patients. bvFTD patients had significantly increased carbohydrate intake and SD patients significantly increased sugar intake. Despite increased intake in the FTD groups, their hunger/satiety scores did not differ from the control group. BMI measurements were significantly higher in the FTD and FTD/MND groups than in the MND (bulbar and limb) and control groups. Increased BMI in the bvFTD and SD groups was also significantly associated with abnormal eating behavior. BvFTD patients had significantly increased insulin levels, triglyceride, cholesterol ratios, and lower high-density lipoprotein cholesterol levels compared to controls. Abnormal eating behavior is prominent in bvFTD and SD patients, and is associated with increased sugar and carbohydrate intake, and is not the result of increased hunger and lower satiety. Similar findings have been shown in obese patients, attributed to disinhibition, orbitofrontal pathology and dysfunction of hypothalamic pathways that control appetite, suggesting similar pathways may be affected in FTD. Abnormal eating behavior in FTD is associated with changes in BMI, and a blood metabolic profile similar to that seen in MND. Despite similar pathology however, BMI in all forms of MND appears lower than in FTD. http://dx.doi.org/10.1016/j.jocn.2014.06.044
31. The neuro-ophthalmology of mitochondrial disease with a particular focus on the morphology of the optic nerve head Kate Ahmad a,b, Kimberley Tan a,b, Carolyn Sue a,b a b
Royal North Shore Hospital, St Leonards, NSW, Australia Kolling Institute of Medical Research, St Leonards, NSW, Australia
Mitochondrial diseases are a clinically heterogenous group of disorders that are the result of dysfunction of the mitochondrial respiratory chain. Neuro-ophthalmological signs are a frequent clinical finding in mitochondrial disease. We aimed to establish the presence of neuro-ophthalmological signs in a cohort of 117 patients with mitochondrial disease. We also aimed to look at the optic nerve head in detail to confirm the finding of an increased cup to disc ratio in these patients, as this had been noted anecdotally but not objectively demonstrated. A total of 117 patients from the neurogenetics clinic at Royal North Shore Hospital were included in the initial neuroophthalmology database. Patient notes were analysed retrospectively and the presence of ptosis, external ophthalmoplegia, optic nerve abnormalities, retinal abnormalities, visual acuity and intraocular pressure were noted. Patients were included if they had clinically definite or probable mitochondrial disease using the modified Walker criteria. Ophthalmic findings were then correlated with the clinical phenotype and the genotype. We then performed optical coherence tomography (OCT) on 54 of the patients and quantitatively measured the cup to disc ratio and cup volume. These values were compared to normal data. Our results confirmed that neuroophthalmological abnormalities are commonly found in patients with mitochondrial disease. Eighty-one percent of patients had at least one neuro-ophthalmological abnormality. Retinal pigmentary abnormalities were found frequently, affecting 50.9% of patients; ptosis was also common, affecting 49.6%. External ophthalmoplegia and optic disc abnormalities (including an increased cup to disc ratio) were also seen in nearly half of patients. Visual loss was relatively uncommon, and notably only one patient had severe visual loss worse than 6/60. The OCT data confirmed increased cup to disc ratio and cup volume in patients with mitochondrial disease when compared with normal controls. Neuro-ophthalmological
2043
examination is abnormal in the majority of patients with suspected or confirmed mitochondrial disease. Both retinal and optic nerve abnormalities may be asymptomatic and need to be specifically sought. Our patient group showed a high incidence of optic nerve head cupping, and we propose that this be considered as a potential marker for mitochondrial disease. Our results also show a low incidence of significant visual loss, except in those patients where it is the defining characteristic of the mutation. Patients with other mitochondrial syndromes can be reassured that significant visual loss as a result of their disease is uncommon. http://dx.doi.org/10.1016/j.jocn.2014.06.045
32. Baseline peri-infarct N-acetylaspartic acid concentration correlates with subsequent white matter atrophy after ischaemic stroke Nawaf Yassi a,b, Bruce Campbell a,b, Patricia Desmond c, Mark Parsons d, Stephen Davis a,b, Andrew Bivard a,b a Department of Medicine, Melbourne Brain Centre at Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia b Department of Neurology, Melbourne Brain Centre at Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia c Department of Radiology, The Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia d Priority Research Centre for Neuroscience and Mental Health, University of Newcastle and Hunter Medical Research Institute, Newcastle, NSW, Australia
Longitudinal changes in cerebral volume have been described in ischaemic stroke and may correlate with long-term outcome. We tested the hypothesis that baseline peri-infarct concentration of the neuronal metabolite N-acetylaspartic acid (NAA) correlates with subsequent cerebral volume change after stroke. Patients with supratentorial ischaemic stroke underwent 3 Tesla MRI within 1 week and at 1 and 3 months from onset. Structural imaging involved a T1-weighted axial magnetization prepared rapid gradient echo (1 mm slices, repetition time 1.9 s, echo time 2.82 ms). NAA estimation was performed at baseline using single-voxel spectroscopy (3 3 3 cm voxels, echo time 30 ms) with the voxel placed in the peri-infarct region determined by visual assessment of the diffusion-weighted image. Quantitative spectroscopic analysis was performed in LCmodel. Cerebral volume change was determined between the 1 and 3 month scans due to the effects of oedema on baseline scans. Grey and white matter volume, normalised for head size, were determined using SIENAX (part of FSL). The result was validated using Freesurfer. Fifteen patients were included in the analysis. Mean age was 69 years (interwquartile range [IQR] 62–78). Median baseline National Institutes of Health Stroke Scale score was 10 (IQR 5–14). Mean peri-infarct NAA concentration was 6.2 mM (IQR 5.1–7.6) versus 7.0 mM (IQR 6.0–8.0) in the contralateral hemisphere (p < 0.05, paired t-test). Age was inversely correlated with baseline grey matter volume (r = 0.84, p < 0.001) but not with white matter volume. Lower concentrations of baseline peri-infarct NAA were significantly associated with white matter volume loss between 1 and 3 months (r = 0.69, p < 0.005) but not with grey matter volume change. There was a similar trend using Freesurfer (r = 0.51, p = 0.06) which was driven by changes in the stroke hemisphere (r = 0.69, p = 0.007). Estimation of peri-infarct NAA may predict subsequent white matter atrophy. Correlation with clinical endpoints is required. http://dx.doi.org/10.1016/j.jocn.2014.06.046