OPL060 Cereberal ataxia revealing vitamin E deficiency (7 cases from 4 families)

OPL060 Cereberal ataxia revealing vitamin E deficiency (7 cases from 4 families)

$60 Oral Platform Abstracts Tuesday, November 8, 2005 OPL057 Cerebellum contributes to motor timing and prediction. Behavioral and tMRI study in he...

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Oral Platform Abstracts

Tuesday, November 8, 2005

OPL057 Cerebellum contributes to motor timing and prediction. Behavioral and tMRI study in healthy subjects and patients with spinocerebellar ataxia Bares, M 1'2'3'4, Lungu, O 1`2, Liu, T 1"2, Wfichter, T 1`2`3,Gomez, C 2`3, Ashe, j1,2,3. ZBrain Sciences Center, Veterans Affairs Medical Center,

Minneapolis, Minnesota, USA.."2Department of Neuroscience, Universit), of Minnesota, Minneapolis, Minnesota, USA; SDepartment of Neurology, University of Minnesota, Minneapolis, Minnesota, USA; 41~ Department of Neurology, St. Anne's Hospital, Masaryk University Brno, Czech Republic Background: The capacity to precisely time events is important for many aspects of human perception and skilled actions. The cerebellum contributes to performance o f a wide range of skilled behaviors and it appears to be especially important when the tasks entail event timing. Method: We investigated the effect of movement type (acceleration, deceleration, constant.), speed (slow, medium, fast), and angle (0 '~, 15'~ and 30 '~) on the timing behavior and functional brain activation in healthy subjects and in subjects with spinocerebellar ataxia (SCA). 12 healthy subjects and 9 patients with spinocerebellar ataxia 6 and 8 were instructed to hit a moving target by pressing the button. Results: As expected, those with SCA were significantly worse at interception than healthy controls. However, the slower RT in the SC.A group could not account for their poor performance. The control conditions showed that the cerebellar subjects were fast enough to hit successfully the moving target and their control o f visual input was satisfactory. A functional MRI study in healthy subjects displayed the bigger cerebellar activation which positively correlated with successful motor outcome when compared to SCA patients. Conclusion: Our data indicate that the cerebellum plays an essential role in integrating incoming visual infomtation with motor output.

OPL058 SCA 12 Emerging as Second Commones~t Type of Spinocerebellar Ataxia in India? Srivastava Aehal K 1, Kumar R, Muketji M 2, Virdi K 2, Bahl S2, TripathJ M 1, Singh MB 1, Bhatia R 1, Padma MV 1, Prasad K 1, Behari M 1. 1Department of Neurology, All India Institute of

Medical Sciences, New Delhi, India; 2Functional Genomics Unit, Institute of Genomics and Integrative Biology (CSIR), Mall Road, Delhi, India Background: We report the emergence of SCA 12 as second commonest type of SCA in India and present the phenotype in largest number of genotypically confirmed pedigrees. Method: Individuals from 212 Indian families clinically diagnosed as A D C A phenotype were tested for expansion of CAG/CTG repeats at SCAI, SCA2, SCA3, SCA6, SCA7, SCA8, SCAI2, SCA17, Freiderich's and D R P L A loci. Results: SCA 1 mutation was seen in 19 pedigrees, SCA 2 in 45, SCA 3 in 6 and SCA 7 in 2. SCA 12 was identified in 25 affected and 8 asymptomatic individuals from 20 families. The expanded allele carried 51 to 69 CAG repeats (normal alleles 7 to 31 repeats). Age at disease onset was 26 to 56 years. All affecteds had dysarthria but mild or no gait ataxia. Most presented with upper extremity tremor as initial symptom (19/25) and were found to have brisk reflexes (17/25). In 12 of 23 patients there was evidence of sub clinical sensory or sensorymotor neuropathy while imaging of brain (CT/MRI) showed cerebellar as well as cerebral cortical atrophy in 16 of 25 cases. All the subjects belonged to an endogamous population. Conclusion: SCA 12 accounting for about 9% of ataxia fanfilies is emerging as second commonest cause of A D C A in Northern part of India. A D C A phenotype patients coming from the endogamous

population and presenting with hand tremors in a setting of milder atmxia with brisk reflexes, evidence of sub-clinical peripheral neuropathy and cerebral cortical and cerebellar atrophy can be suspected to have SCA12. OPL059 Clinical features and alterations of motor and somatosensery pathways function in patients with spinocorebellar ataxias type 1 and type 2 Rakowiez, M, gola, R, Zdzietficka, E, Sutek, A, Poniatowska, R, Niewiadomska, M, Szirkowiec, W, Inglot, E, Zalewska, U, Zaremba, J.

Institute of Psychiatry and Neurology, Warsaw, Poland Background: Spinocerebellar atmxias type 1 (SCA1) and type 2 (SCA2) are neurodegenerative disorders caused by the expansion of CAG repeats. We have evaluated and compared the functional state of motor and somatosensory pathways in the two conditions. Methods: We studied 44 individuals with SCAI and 25 with SCA2 using transcranial magnetic stimulation (TMS), to evaluate cortical excitability threshold (MT), central motor conduction time (CMCT), and motor evoked potentials amplitudes (MEPs), and somatosensory evoked potentials (SEPs) to median and tibial nerves stimulation for central - spinal conduction times (SCT) analysis. MRI was carried out to measure atrophy o f the cerebellum and cervical spinal cord. Results: Age of patients with SCA1 43.0 ± 9.8 and SCA2 41.2 ± 14.0, and disease duration 8.1 ± 4.7 and 11.2 ± 7.4 were not statistically different. MT was elevated mainly in SCA1 patients (65%) for upper and lower limbs, accompanied by MEPs amplitude decrease. In 28% of SCA2 cases MT was increased only in the lower limbs. CMCT was significantly prolonged in all tested SCA1 cases, in contrast to 36% of SCA2 patients. SCT was significantly delayed in both entities. MRI revealed more evident cerebellar and brain stem atrophy (p < 0.01) in SCA2 patients, while the shrinkage of cervical spinal cord in 65% of SCA1 patients was observed. Conclusions: The motor cortex and corticospnial tracts are more affected in SCA1 patients, while somatosensory afferents are involved to the same degree in both disorders. The research was supported by grant 3PO5B 019 24 from the Ministry of Scientific Research.

OPL060 Cereberal Ataxia Revealing Vitamin E Deficiency (7 cases from 4 families) Asbai, K, Louhab, N, Kissatd, N. Department of Neurology, CHU of

Marrakech, Morocco Background" Cerebellar ataxia revealing vitamin E deficiency is an autosomal recessive metabolic, disease, frequent in Northern Africa. Authors report 7 cases belonging to 4 families from south Morocco; they analyze clinical, paraclinical and evolutionary aspects and underline the good prognosis if treatment started precociously. Method: The first five cases belong to 2 fanfilies (2 brothers and one 16 years old girl and her 2 brothers from the second family), all born from consanguineous parents, presented Friedreich ataxia. The 2 others patients (22 years old boy and a 7 years old girl), have cerebellar syndrome dominated by an ataxia and the girl have also a mental retardation. Results: Encephalic MRI realized in 3 patients, showed in the first and the last case cerebellar atrophy. Vitamin E was measured in all cases and revealed a low level in all cases. A n d after tocopherol treatment all patients recovered, the last case completely, five others partially and we deplore later on one death (2~a case). Cerebellar ataxia in vitamin E deficiency is rare pathology, but more frequent in Northern Africa; the abnormal gene was mapped to chromosome 8q.

Oral Platform Abstracts

Tuesday, November 8, 2005

$61

Conclusion: Unexplained spino-cerebellar atmxia or isolated cerebellar

Method: We undertook a systematic review o f observational studies

syndromes should suspect metabolic aetiology especially vitamin E deficiency; Vitanffn E supplementation stabilizes the neurological signs and can lead to complete improvement, especially in early stages of disease.

of stroke (published before June 2004), with prospective and conseca five recruitment that attempted to quantify the burden of depressive symptoms following stroke. Data were identified from 12 electronic databases and grouped by type (population-, hospital- and commmffty-based studies) and time of assessment (14 weeks or less, between 4 weeks and 6 months, and more than 6 months) following stroke. Results: Data were available from 51 studies (reported in 96 publications) conducted since 1977. While the frequency of depressive symptoms varies across individual studies, pooled estimates indicate that one third of stroke survivors experience depression. Much o f the variation in individual study results may be explained by variation in participant characteristics and method of mood assessment. Only a small proportion of survivors appear to experience depressive symptoms for longer than a year, and few seem to receive effective management of the illness. Physical disability is associated with depressive symptoms but the direction of causality is unclear. Conehision: Depression is a common and relatively neglected area of stroke care. There is a pressing need for predictive variables to be identified and for management strategies to be evaluated in order to improve stroke outcomes.

S t r o k e - Clinical & E x p e r i m e n t a l Part 1 OPL061 Cerebral venous thrombosis; risk factors, presentation, treahnent and outcome in 252 patients Wasay, M l, Bakshi, R ~, Bobustuc, G 3, Kojan, S4, Dubey, N ~,

Sheikh, Z ~, Dai, A e, Cheema, Z 7, Unwin, H 4. 1The Ago Khan

University, Karachi, Pakistan/2University at Buffalo, State University of New York, Buffalo, NY, USA," 3University of Texas, Houston, TX, USA; 4University of Texas Southwestern Medical center, Dallas, TX, USA; 5University of Michigan, Ann Arbor, MI, USA; 6Vanderbilt University, Nashville, TN, USA; 7Oklahoma University Health Science center, Oklahoma City, OR; USA Objective: To analyze clinical and imaging features, risk factors,

treatment options and outcome of CVT. Methods: Patients were identified at 11 centers in United States during

a ten year period by retrospective chart review (11991-1997) and prospective enrollment (1997-2001). Results: 252 patients were included in study. Age range was 6 days82 years. Age range for 182 adult patients included in the study was 13-82 years (Mean 38 years). One hundred and nine (60%) were women. In 103 patients (57%) one or more predisposing factors were identified. Headache was the most common symptom (171%) followed by a focal neurological deficit (36%) and seizures (32%). Sixty-one patients (33%) had evidence of hemorrhage by CI'/MRL Twenty-seven patients (15%) were treated with thrombolysis, 98 (54%) with heparin, 26 (14"/o) with LMWH, 7 (4%) with in hydration and antibiotics alone and 10 (5"/o) with hydration alone. Overall mortality was 13% (n -- 24). On multivariate analysis the best predictors of a poor outcome were coma at presentation and intracerebral hemorrhage. Seventy-two patients of pediatric age range (less than 12 years) were included in study ( 25; 35% neonates). Clinical features at presentation included seizures (59%), coma (30%), drowsiness (21%), headache (18%), motor weakness (21%), fever (133"/o). Predisposing factors were identified in 63 (90%) patients. Three patients were treated with direct thrombolysis with urokinase, 15 patients received anticoagnlation and 49 (170%) patients were treated with antibiotics and hydration and seven patients underwent surgery. Nine (113"/o) patients (6 neonates) died. Seizures and coma at presentation were poor prognostic indicators. Conclusion: Coma at presentation and intracerebral hemorrhage remains to be the best predictors of poor outcome for adult CVT. CVT in pediatric patients predominantly affect children age less than six months. Mortality is high (125%) in neonatal CVT. Prognosis was poor in pediatric patients with coma and seizures.

OPL062 Frequency and management of post-stroke depression: a s"ystematic review of observational studies Haekett M L 1, Yapa CM 2, Parag V 2, Anderson CS 1. ZThe George

Institute for International Health, Sydney, Australia; 2The University of Auckland, Auckland, New Zealand

OPL063 Glucose Is Persis~tently Elevated In Acute Stroke Patients

Allport, L 1'2, Baird, T ~:~, Butcher, K 1:~, MacGregor, L ~, Colman, P~.#, Davis, S 1'2. 1Department of Neurology, Royal Melbourne Hospital,

Melbourne, Australia; 2University of Mdbourne, Melbourne, Australia; 3Department of Clinical Epidemiology, Royal Melbourne Hospital, Melbourne, Australia; 4Department of Diabetes and Endocrinology, Royal Melbourne Hospital, Melbourne, Australia Background: Post-stroke hyperglycaemia is common and has an

adverse effect on outcome. Tiffs study aimed to define the temporal profile of post-stroke hyperglycaemia using a novel Continuous Glucose Monitoring System (CGMS). Methods: CGMS was performed in ischaemic stroke patients presenting within 24 hours o f symptom onset. The CGMS recorded interstitial glucose levels every 5 minutes for 72 hours. HyperglycaemJa was defined as glucose > 7 nmtol/L. Results- Of the 59 patients studied, 36% had pre-existing diabetes mellitus. Median time from stroke onset to commencement of CGMS was 16 (5-44) hours and was performed for 69 (122-101) hours, yielding 740 (1260-965) readings per patient. Peak median glucose of 8.0 mmol/L occurred at the earliest monitored time point of 8 hours post stroke (70% of patients hyperglycaemic), decreasing sequentially until 14 hours post stroke to 5.7 mmol/L (21% hyperglycaenffc). A plateau phase with glucose of 5.6-6.6 mmol/L (~33% hyperglycaemJc) occurred until 60 hours when median glucose values increased to ~7.0 mmol/L (151% hyperglycaemic). From 60 hours to completion of CGMS, 33-52% of patients remained hyperglycaernic. Multiple regression analysis demonstrated that diabetes (p < 0.001) and insular cortical ischaenffa (p - 0.027) independently predicted higher glucose values. Contusion: This comprehensive analysis of the glucose profile in acute stroke demonstrated that although glucose values decline hyperacutely many patients remain hyperglycaemJc for at least 72 hours post stroke. The duration of hyperglycaemia is greatly underestimated by random, infrequent time-point glucose estimates. In view of these results, intravenous insulin protocols should be undertaken for at least 72 hours post stroke.

Background: Stroke is an important contributor to depression and

other neuropsychiatric disorders. However, uncertainty remains over the frequency, natural history and impact of depression on patient outcomes, largely due to complexities in study designs and assessment of mood in the setting of stroke.

OPL064 Environmental enrictunent sthnulates stem cell proliferation, survival and neuroblast formation in the subventriCular zone after cortical hd'arcts in rats