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P1.067 Executive dysfunction in hemifacial spasm
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Poster presentations / Parkinsonism and Related Disorders 15S2 (2009) S29–S199
Conclusions: Our preliminary results suggest that executive dysfunctions may reflect an abnormal premotor–motor connections network in FD.
Conclusion: There was essentially no statistical difference in the muscle paralysis resulting from fresh toxin between Botox® (Allergan, Irvine, CA, USA) and BTXA® (Lanzhou Institute, China).
P1.067 Executive dysfunction in hemifacial spasm
P1.069 Genetic spectrum of dopa-responsive dystonia in the Polish families M. Rudzinska1 , M. Bodzioch2 , K. Lapicka-Bodzioch2 , B. Zapała2 , A. Potulska-Chromik3 , P. Janik4 , Z. Jamrozik4 , A. DembinskaKiec2 , A. Szczudlik1 . 1 Department of Neurology, 2 Department of Biochemistry, Jagiellonian University, Krakow, 3 Department of Neurology, Medicial University of Warsaw, Warsaw, 4 Department of Neurology, Medical University of Warsaw, Krakow, Poland
S. Ochudlo1 , K. Wisniewska2 , A. Tarko2 , T. Sadowski3 , G. Opala4 . 1 Neurology, Central Hospital of Medical University of Silesia, 2 Student Scientific Group, 3 Epidemiology, 4 Neurology, Medical University of Silesia, Katowice, Poland Objective: Hemifacial spasm (HFS) is a fairly common neurological disorder characterized by abnormal function of seventh cranial nerve due to repetitive facial muscles contractions, which interferes with the performance of motor tasks. In hemifacial spasm, a deficient interaction between premotor and motor cortex could impair the ability of the motor cortex to execute a task-specific movement. Background: Prior studies have focused on the VII nerv itself; this investigation is novel in looking at the important contribution of the premotor cortex to both motor execution and abnormalities in HFS. We hypothesize that a deficient premotor–motor inhibitory network contributes to the unwanted involuntary movements in HFS. Methods: We studied 34 control subjects adn 41 patients with HFS. Premotor-motor intracortical interactions were analyzed by Frontal Assessment Battery (FAB) and Trial Making Test A and B (TMT-A, TMT-B). Results: Our preliminary results show statistically significant difference between HFS and control in both tests FAB, TMT-A and TMT-B. FAB: 11.2 (2.6), p < 0.05; TMT-A: 75.3 (31.2) p < 0.01; TMT-B: 111.4 (35.7), p < 0.05. Conclusions: Our preliminary results suggest that executive dysfunctions may reflect an abnormal premotor–motor connections network in HFS. P1.068 Comparative study of the botulinum toxin type A potency between Botox® and BTXA® : using human extensor brevis muscle M. Park1 , K. Ahn2 . 1 Neurology, Yeungnam University Medical Center, Daegu, South Korea, 2 Plastic and Reconstructive Surgery, Dr. Ahn’s Aesthetic Clinic, Daegu, Republic of Korea Introduction: Even though the dopaminergic agents are taken adequately in the patients with Parkinson’s disease, focal dystonia of digits is not uncommon. Sometimes local injection of botulinum toxin type A into the target muscles is useful to relieve their focal motor discomfortness. Background: The objective of this study was to compare the potency of botulinum toxin products between Botox® (Allergan, Irvine, CA, USA) and BTXA® (Lanzhou Institute, China). A prospective randomized double blind controlled comparison in the two groups was undertaken. Material and Methods: Using 18 healthy volunteers, we measured decline in extensor digitorum brevis (EDB) compound muscle action potential (CMAP) amplitude following 1 week after injection of fresh reconstituted 2.5 MU Botox® in one side and 2.5 MU BTXA® in the other side of the foot. We also measured EDB CMAP amplitude at post injection 12 weeks. Results: Eighteen (male 9, female 9) volunteers, aged 22 to 29 years old (mean age 24.0±2.3 years), were enrolled and two groups (each side of foot) were evaluated according to their injected commercial preparations. The mean values of EDB amplitude percent paralysis at post injection 1 and 12 week were as follows: 52.9±5.0% in the Botox® group and 54.7±18.1% in the BTXA® group at 1 week after injection, 23.3±24.3%, 25.8±29.6% at 12 weeks after injection in each group.
Introduction: Dopa-responsive dystonia (DRD) is an autosomal dominant disease caused by GCH1 mutations. There have been approximately 100 distinct mutations identified so far. Objective: To present the genetic spectrum of DRD patients in the Polish population. Patients and Methods: We performed mutation analysis of the whole GCH1 coding sequence in 13 DRD patients (11 women) and 28 unaffected family members, representing six DRD families from Poland. Results: We detected six different GCH1 mutations in all 13 clinically confirmed cases and three unsymptomatic carriers. Five of those defects were novel, including two splice site mutations, c.453+1G>A and c.509+5delG, two missense substitutions, c.539A>C (Q180P) and c.680C>A (T227N), and one frameshift mutation in exon 1, resulting in a premature stop codon, c.93delG (G31fsX66). One mutation, c.614T>G (V205G), was reported previously. None of the detected mutations was identified in a control group of 80 sex- and age-matched control individuals without neurological abnormalities. In 10 of 13 patients, the onset was between 4 and 12 years of age but in two others in adulthood (28 and 44 years for age). In all cases the disease presented with foot dystonia, progressing to hemidystonia in one patient, and cervical dystonia in the other. In six patients, dystonia coincided with some other involuntary movements or parkinsonian syndrome. Five patients in one DRD family showed a clinically significant shortening (1.5–4 cm) of a dystonic leg. Conclusion: There is a wide heterogeneity of genetic defects among DRD patients even in patients with similar phenotypes coming from different families. P1.070 Mutations in the THAP1 (DYT6) gene – a cause of generalized dystonia with prominent spasmodic dysphonia S.A. Schneider1 , A. Djarmati1 , K. Lohmann1 , S. Winkler1 , 2 H. Pawlack1 , J. Hagenah2 , N. Bruggemann ¨ , S. Zittel3 , T. Fuchs4 , 1 2 5 A. Rakovic´ , A. Schmidt , H.-C. Jabusch , R. Wilcox6 , V.S. Kostic´ 7 , 3 H. Siebner8 , A. Munchau ¨ , L.J. Ozelius4,9 , C. Klein1 . 1 Neurogenetics, 2 Neurology, University Luebeck, Luebeck, 3 Neurology, University Hamburg, Hamburg, Germany; 4 Genetics and Genomic Science, Mount Sinai School of Medicine, New York, NJ, USA; 5 Institut f¨ ur Musikermedizin, Hochschule f¨ ur Musik Carl Maria von Weber, Dresden, Germany; 6 The Prince Charles Hospital, Chermside, Brisbane, QLD, Australia; 7 Institute of Neurology, CCS, Belgrade, Serbia; 8 Danish Research Centre for Magnetic Resonance, Department of Magnetic Resonance; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark; 9 Department of Neurology, Mount Sinai School of Medicine, New York, NJ, USA DYT6 causes primary early-onset torsion dystonia. Unlike in DYT1 dystonia, symptoms frequently involve the cranio-cervical region. Recently, two mutations in the THAP1 gene have been identified. Methods: We comprehensively screened 160 predominantly German dystonia patients with an early age at onset (n = 64), generalized dystonia (n = 35), a positive family history (n = 56), or
Poster presentations / Parkinsonism and Related Disorders 15S2 (2009) S29–S199
Conclusions: Our preliminary results suggest that executive dysfunctions may reflect an abnormal premotor–motor connections network in FD.
Conclusion: There was essentially no statistical difference in the muscle paralysis resulting from fresh toxin between Botox® (Allergan, Irvine, CA, USA) and BTXA® (Lanzhou Institute, China).
P1.067 Executive dysfunction in hemifacial spasm
P1.069 Genetic spectrum of dopa-responsive dystonia in the Polish families M. Rudzinska1 , M. Bodzioch2 , K. Lapicka-Bodzioch2 , B. Zapała2 , A. Potulska-Chromik3 , P. Janik4 , Z. Jamrozik4 , A. DembinskaKiec2 , A. Szczudlik1 . 1 Department of Neurology, 2 Department of Biochemistry, Jagiellonian University, Krakow, 3 Department of Neurology, Medicial University of Warsaw, Warsaw, 4 Department of Neurology, Medical University of Warsaw, Krakow, Poland
S. Ochudlo1 , K. Wisniewska2 , A. Tarko2 , T. Sadowski3 , G. Opala4 . 1 Neurology, Central Hospital of Medical University of Silesia, 2 Student Scientific Group, 3 Epidemiology, 4 Neurology, Medical University of Silesia, Katowice, Poland Objective: Hemifacial spasm (HFS) is a fairly common neurological disorder characterized by abnormal function of seventh cranial nerve due to repetitive facial muscles contractions, which interferes with the performance of motor tasks. In hemifacial spasm, a deficient interaction between premotor and motor cortex could impair the ability of the motor cortex to execute a task-specific movement. Background: Prior studies have focused on the VII nerv itself; this investigation is novel in looking at the important contribution of the premotor cortex to both motor execution and abnormalities in HFS. We hypothesize that a deficient premotor–motor inhibitory network contributes to the unwanted involuntary movements in HFS. Methods: We studied 34 control subjects adn 41 patients with HFS. Premotor-motor intracortical interactions were analyzed by Frontal Assessment Battery (FAB) and Trial Making Test A and B (TMT-A, TMT-B). Results: Our preliminary results show statistically significant difference between HFS and control in both tests FAB, TMT-A and TMT-B. FAB: 11.2 (2.6), p < 0.05; TMT-A: 75.3 (31.2) p < 0.01; TMT-B: 111.4 (35.7), p < 0.05. Conclusions: Our preliminary results suggest that executive dysfunctions may reflect an abnormal premotor–motor connections network in HFS. P1.068 Comparative study of the botulinum toxin type A potency between Botox® and BTXA® : using human extensor brevis muscle M. Park1 , K. Ahn2 . 1 Neurology, Yeungnam University Medical Center, Daegu, South Korea, 2 Plastic and Reconstructive Surgery, Dr. Ahn’s Aesthetic Clinic, Daegu, Republic of Korea Introduction: Even though the dopaminergic agents are taken adequately in the patients with Parkinson’s disease, focal dystonia of digits is not uncommon. Sometimes local injection of botulinum toxin type A into the target muscles is useful to relieve their focal motor discomfortness. Background: The objective of this study was to compare the potency of botulinum toxin products between Botox® (Allergan, Irvine, CA, USA) and BTXA® (Lanzhou Institute, China). A prospective randomized double blind controlled comparison in the two groups was undertaken. Material and Methods: Using 18 healthy volunteers, we measured decline in extensor digitorum brevis (EDB) compound muscle action potential (CMAP) amplitude following 1 week after injection of fresh reconstituted 2.5 MU Botox® in one side and 2.5 MU BTXA® in the other side of the foot. We also measured EDB CMAP amplitude at post injection 12 weeks. Results: Eighteen (male 9, female 9) volunteers, aged 22 to 29 years old (mean age 24.0±2.3 years), were enrolled and two groups (each side of foot) were evaluated according to their injected commercial preparations. The mean values of EDB amplitude percent paralysis at post injection 1 and 12 week were as follows: 52.9±5.0% in the Botox® group and 54.7±18.1% in the BTXA® group at 1 week after injection, 23.3±24.3%, 25.8±29.6% at 12 weeks after injection in each group.
Introduction: Dopa-responsive dystonia (DRD) is an autosomal dominant disease caused by GCH1 mutations. There have been approximately 100 distinct mutations identified so far. Objective: To present the genetic spectrum of DRD patients in the Polish population. Patients and Methods: We performed mutation analysis of the whole GCH1 coding sequence in 13 DRD patients (11 women) and 28 unaffected family members, representing six DRD families from Poland. Results: We detected six different GCH1 mutations in all 13 clinically confirmed cases and three unsymptomatic carriers. Five of those defects were novel, including two splice site mutations, c.453+1G>A and c.509+5delG, two missense substitutions, c.539A>C (Q180P) and c.680C>A (T227N), and one frameshift mutation in exon 1, resulting in a premature stop codon, c.93delG (G31fsX66). One mutation, c.614T>G (V205G), was reported previously. None of the detected mutations was identified in a control group of 80 sex- and age-matched control individuals without neurological abnormalities. In 10 of 13 patients, the onset was between 4 and 12 years of age but in two others in adulthood (28 and 44 years for age). In all cases the disease presented with foot dystonia, progressing to hemidystonia in one patient, and cervical dystonia in the other. In six patients, dystonia coincided with some other involuntary movements or parkinsonian syndrome. Five patients in one DRD family showed a clinically significant shortening (1.5–4 cm) of a dystonic leg. Conclusion: There is a wide heterogeneity of genetic defects among DRD patients even in patients with similar phenotypes coming from different families. P1.070 Mutations in the THAP1 (DYT6) gene – a cause of generalized dystonia with prominent spasmodic dysphonia S.A. Schneider1 , A. Djarmati1 , K. Lohmann1 , S. Winkler1 , 2 H. Pawlack1 , J. Hagenah2 , N. Bruggemann ¨ , S. Zittel3 , T. Fuchs4 , 1 2 5 A. Rakovic´ , A. Schmidt , H.-C. Jabusch , R. Wilcox6 , V.S. Kostic´ 7 , 3 H. Siebner8 , A. Munchau ¨ , L.J. Ozelius4,9 , C. Klein1 . 1 Neurogenetics, 2 Neurology, University Luebeck, Luebeck, 3 Neurology, University Hamburg, Hamburg, Germany; 4 Genetics and Genomic Science, Mount Sinai School of Medicine, New York, NJ, USA; 5 Institut f¨ ur Musikermedizin, Hochschule f¨ ur Musik Carl Maria von Weber, Dresden, Germany; 6 The Prince Charles Hospital, Chermside, Brisbane, QLD, Australia; 7 Institute of Neurology, CCS, Belgrade, Serbia; 8 Danish Research Centre for Magnetic Resonance, Department of Magnetic Resonance; Copenhagen University Hospital Hvidovre, Copenhagen, Denmark; 9 Department of Neurology, Mount Sinai School of Medicine, New York, NJ, USA DYT6 causes primary early-onset torsion dystonia. Unlike in DYT1 dystonia, symptoms frequently involve the cranio-cervical region. Recently, two mutations in the THAP1 gene have been identified. Methods: We comprehensively screened 160 predominantly German dystonia patients with an early age at onset (n = 64), generalized dystonia (n = 35), a positive family history (n = 56), or