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Frequency of the pain and sleep problems in dystonia patients and influence of deep brain stimulation
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Abstracts / Parkinsonism and Related Disorders 22 (2016) e76ee79
arm of chromosome 2 and contains a 4Mb-homozygous region. Within this region, WES uncovered a PRKRA c.665C>T p.Pro222Leu mutation. Sanger sequencing confirmed the mutation which perfectly cosegregates within the family. The same and additional mutations were reported in six independent pedigrees of Polish and Brazilian ancestries providing conclusive evidence for a disease-causing role of PRKRA mutations in DYT16. Our haplotype analysis shows that the Italian patients share a 0.5 Mb identical homozygous region with all the nine p.Pro222Leu carriers. Conclusions: these results support the contention that c.665C>T is a founder mutation, as already suggested. Mutations in this gene might be more common than earlier thought, and PRKRA screening is warranted in all patients with autosomal-recessive dystonia. Our data contribute to a better delineation of the DYT16 genetic and clinical spectra. OP 3.50.07. FREQUENCY OF THE PAIN AND SLEEP PROBLEMS IN DYSTONIA PATIENTS AND INFLUENCE OF DEEP BRAIN STIMULATION Vladimira Vuletic. Department of Neurology, University Hospital Dubrava, Zagreb, Croatia Objectives: Pain and sleep problems are often neglected and underrecognized and affect significantly quality of life. Our aim was to see the frequency of them at dystonia patients and influence of the Deep brain stimulation (DBS). Methods: We conducted investigation with anamnesis and treatments’ data, appropriate scales for dystonia and Pittsburgh Sleep Quality Index (PSQI), Visual Analogue Scale, McGill questionnaire and Hospital Anxiety and Depression Scale (HADS). The study involved randomly selected 70 dystonia patients (20 generalized dystonia, 25 cervical dystonia and 25 facial dystonia: blepharospasm, oromandibular dystonia and hemifacial spasm) and 10 patients that had treated with DBS last year. . For all patients we did another investigation 6 months after first one and for DBS patients before DBS and 6 months after operation. In addition we try to see factors that were connected with pain and sleep problems. Results: The pain prevalence was 83% and for sleep disturbances 80%. After 6 months the pain was reduced in group treated with Botulinum toxin (from 76% to 20%). After DBS we observed significant decrease in frequency concerning sleep problems (from 90 % to 10% of patients) and pain (from 90% to 20%) (p<0,05). We found that both symptoms were associated with depression. Conclusions: There is rather high frequency of the pain and sleep problems at dystonia patients and they should have to be assessed regularly in our clinical practice. DBS helps in relieving of the pain and sleep problems. References: 1. Eichenser SR, Stebbins GT, Comella CL. Beyond a motor disorder: a prospective evaluation of sleep quality in cervical dystonia. Parkinsonism Relat Disord 2014;20:405-408. 2. Kuyper DJ, Parra V, Aerts S et al. Nonmotor manifestations of dystonia: a systematic review. Mov Disord 2011;26:1206-1217. OP 3.50.08. TOBACCO INCREASES SYMPTOMS
DYSTONIA
RISK
BUT
MAY
AMELIORATE
Clara Hellberg, Andreas Puschmann. Department for Neurology and Rehabilitational Medicine, Lund, Sweden Objectives: To characterize the role of tobacco use as a risk factor for dystonia and its possible direct impact on dystonia symptoms. Methods: We asked 105 dystonia patients, 117 PD patients and 116 controls about previous and present tobacco consumption. Standardized questionnaires were used. Results were dichotomized into “ever” or “never” users. Dystonia patients who used tobacco after dystonia onset were also asked about alterations in symptoms immediately following tobacco use. Fisher’s Exact Test was used for statistical analyses. Results: A majority of the dystonia patients were “ever” users of tobacco, and this proportion was significantly higher among the dystonia patients compared to “ever” users of tobacco among the PD patients (p¼0.007) or controls (p¼0.014). There was no significant difference between PD patients and controls (p¼0.794; Table).
Group
Number Average age of patients
Dystonia 105 PD 117 Controls 116
Men (%)
Women (%)
Never Ever used used tobacco (%) tobacco (%)
50.9 years 29 (27.6%) 76 (72.4%) 70 (66.7%) 61.6 years 71 (60.7%) 46 (39.3%) 56 (47.9%) 64.7 years 50 (43.1%) 66 (56.9%) 58 (50.0%)
35 (33.3%) 61 (52.1%) 58 (50.0%)
Forty-two patients reported that they still used tobacco after their onset of symptoms. One patient reported worsening, while nine reported improvement of symptoms with reduced muscle tension or tremor, starting immediately to 15 minutes after tobacco use, and lasting for 10 minutes to several hours. Conclusions: Tobacco may increase the risk of developing dystonia, but some patients report symptomatic improvement during and after tobacco use. The improvement may be due to a pharmacological effect or the relaxing situation when tobacco was consumed. Previous studies reported both improvement 1,4 and worsening2,3 of dystonia symptoms with tobacco use, and suggested a possible influence of nicotine on other neurotransmitters. References 1. Lees AJ. Hemidystonia relieved by nicotine. Lancet 1984;8407:871. 2. Murase N, Kaji R, Sakamoto T, et al. Nicotine-sensitive writer's cramp. Movement disorders : official journal of the Movement Disorder Society 2000;15:1276-1279. 3. Prashantha DK, Pal PK. Smoking induced worsening of dystonia. A case report. Mov Disord 2009;24:1857-1858. 4. Vaughan CJ, Delanty N, Harrington H, Murphy MB. Treatment of spastic dystonia with transdermal nicotine. Lancet 1997;9077:565. OP 3.50.09. WILSON DISEASE: ACUTE DYSTONIA DURING TREATMENT WITH SSRI OR SNRI Lars Wictor, Klas Wictorin, Håkan Widner, Andreas Puschmann. Lund University, Department for Clinical Sciences, Lund, Neurology, Lund, Sweden Objectives: We present a patient with Wilson’s disease who developed partially reversible dystonia during treatment with venlafaxine or sertraline. Methods: A patient with genetically verified Wilson’s disease (ATP7B p.Met769fs; p.His1069Gln comp. het.) was followed clinically, examined with serial MRI, 18F-FDG-PET and 123I-FP-CIT-SPECT. The relevant literature was reviewed. Results: A 31-year old man developed anxiety and depression. Treatment with venlafaxine 75mg/d improved the psychiatric symptoms but perioral dystonia occurred within 2 days. During medication with venlafaxine 150mg/d, diplopia, action tremor and weakness were noted. Wilsons’ disease was subsequently diagnosed and copper-chelating therapy with trientine-dihydrochloride initiated. Discontinuation of venlafaxine ameliorated the motor symptoms, but they returned after its reinstatement during trientine treatment. Also under medication with sertraline 50mg/d, there was perioral and tongue dystonia, dysarthria, blepharospasm and gait disturbance, which were partially reversible when sertraline was stopped. The patient’s anxiety was controlled symptomatically with oxazepam without worsening of extrapyramidal symptoms. MRI showed hyperintensities in the pons, mesencephalon, claustrum and pyramidal tracts. Glucose metabolism and dopamine reuptake capacity were reduced bilaterally in the basal ganglia. Conclusions: Wilson’s disease increases the vulnerability to side effects from SSRI and SNRIs. Previously, acute dystonia has been described in a WD patient receiving clomipramine [1]. Both the imbalance of copper metabolism inherent to WD [2] and treatment with SSRIs [3,4] or SNRIs [5] are known causes of dystonia, and we suggest an additive effect when both factors were present simultaneously. The patient described showed imaging abnormalities in the mesencephalon and upper brain
Abstracts / Parkinsonism and Related Disorders 22 (2016) e76ee79
arm of chromosome 2 and contains a 4Mb-homozygous region. Within this region, WES uncovered a PRKRA c.665C>T p.Pro222Leu mutation. Sanger sequencing confirmed the mutation which perfectly cosegregates within the family. The same and additional mutations were reported in six independent pedigrees of Polish and Brazilian ancestries providing conclusive evidence for a disease-causing role of PRKRA mutations in DYT16. Our haplotype analysis shows that the Italian patients share a 0.5 Mb identical homozygous region with all the nine p.Pro222Leu carriers. Conclusions: these results support the contention that c.665C>T is a founder mutation, as already suggested. Mutations in this gene might be more common than earlier thought, and PRKRA screening is warranted in all patients with autosomal-recessive dystonia. Our data contribute to a better delineation of the DYT16 genetic and clinical spectra. OP 3.50.07. FREQUENCY OF THE PAIN AND SLEEP PROBLEMS IN DYSTONIA PATIENTS AND INFLUENCE OF DEEP BRAIN STIMULATION Vladimira Vuletic. Department of Neurology, University Hospital Dubrava, Zagreb, Croatia Objectives: Pain and sleep problems are often neglected and underrecognized and affect significantly quality of life. Our aim was to see the frequency of them at dystonia patients and influence of the Deep brain stimulation (DBS). Methods: We conducted investigation with anamnesis and treatments’ data, appropriate scales for dystonia and Pittsburgh Sleep Quality Index (PSQI), Visual Analogue Scale, McGill questionnaire and Hospital Anxiety and Depression Scale (HADS). The study involved randomly selected 70 dystonia patients (20 generalized dystonia, 25 cervical dystonia and 25 facial dystonia: blepharospasm, oromandibular dystonia and hemifacial spasm) and 10 patients that had treated with DBS last year. . For all patients we did another investigation 6 months after first one and for DBS patients before DBS and 6 months after operation. In addition we try to see factors that were connected with pain and sleep problems. Results: The pain prevalence was 83% and for sleep disturbances 80%. After 6 months the pain was reduced in group treated with Botulinum toxin (from 76% to 20%). After DBS we observed significant decrease in frequency concerning sleep problems (from 90 % to 10% of patients) and pain (from 90% to 20%) (p<0,05). We found that both symptoms were associated with depression. Conclusions: There is rather high frequency of the pain and sleep problems at dystonia patients and they should have to be assessed regularly in our clinical practice. DBS helps in relieving of the pain and sleep problems. References: 1. Eichenser SR, Stebbins GT, Comella CL. Beyond a motor disorder: a prospective evaluation of sleep quality in cervical dystonia. Parkinsonism Relat Disord 2014;20:405-408. 2. Kuyper DJ, Parra V, Aerts S et al. Nonmotor manifestations of dystonia: a systematic review. Mov Disord 2011;26:1206-1217. OP 3.50.08. TOBACCO INCREASES SYMPTOMS
DYSTONIA
RISK
BUT
MAY
AMELIORATE
Clara Hellberg, Andreas Puschmann. Department for Neurology and Rehabilitational Medicine, Lund, Sweden Objectives: To characterize the role of tobacco use as a risk factor for dystonia and its possible direct impact on dystonia symptoms. Methods: We asked 105 dystonia patients, 117 PD patients and 116 controls about previous and present tobacco consumption. Standardized questionnaires were used. Results were dichotomized into “ever” or “never” users. Dystonia patients who used tobacco after dystonia onset were also asked about alterations in symptoms immediately following tobacco use. Fisher’s Exact Test was used for statistical analyses. Results: A majority of the dystonia patients were “ever” users of tobacco, and this proportion was significantly higher among the dystonia patients compared to “ever” users of tobacco among the PD patients (p¼0.007) or controls (p¼0.014). There was no significant difference between PD patients and controls (p¼0.794; Table).
Group
Number Average age of patients
Dystonia 105 PD 117 Controls 116
Men (%)
Women (%)
Never Ever used used tobacco (%) tobacco (%)
50.9 years 29 (27.6%) 76 (72.4%) 70 (66.7%) 61.6 years 71 (60.7%) 46 (39.3%) 56 (47.9%) 64.7 years 50 (43.1%) 66 (56.9%) 58 (50.0%)
35 (33.3%) 61 (52.1%) 58 (50.0%)
Forty-two patients reported that they still used tobacco after their onset of symptoms. One patient reported worsening, while nine reported improvement of symptoms with reduced muscle tension or tremor, starting immediately to 15 minutes after tobacco use, and lasting for 10 minutes to several hours. Conclusions: Tobacco may increase the risk of developing dystonia, but some patients report symptomatic improvement during and after tobacco use. The improvement may be due to a pharmacological effect or the relaxing situation when tobacco was consumed. Previous studies reported both improvement 1,4 and worsening2,3 of dystonia symptoms with tobacco use, and suggested a possible influence of nicotine on other neurotransmitters. References 1. Lees AJ. Hemidystonia relieved by nicotine. Lancet 1984;8407:871. 2. Murase N, Kaji R, Sakamoto T, et al. Nicotine-sensitive writer's cramp. Movement disorders : official journal of the Movement Disorder Society 2000;15:1276-1279. 3. Prashantha DK, Pal PK. Smoking induced worsening of dystonia. A case report. Mov Disord 2009;24:1857-1858. 4. Vaughan CJ, Delanty N, Harrington H, Murphy MB. Treatment of spastic dystonia with transdermal nicotine. Lancet 1997;9077:565. OP 3.50.09. WILSON DISEASE: ACUTE DYSTONIA DURING TREATMENT WITH SSRI OR SNRI Lars Wictor, Klas Wictorin, Håkan Widner, Andreas Puschmann. Lund University, Department for Clinical Sciences, Lund, Neurology, Lund, Sweden Objectives: We present a patient with Wilson’s disease who developed partially reversible dystonia during treatment with venlafaxine or sertraline. Methods: A patient with genetically verified Wilson’s disease (ATP7B p.Met769fs; p.His1069Gln comp. het.) was followed clinically, examined with serial MRI, 18F-FDG-PET and 123I-FP-CIT-SPECT. The relevant literature was reviewed. Results: A 31-year old man developed anxiety and depression. Treatment with venlafaxine 75mg/d improved the psychiatric symptoms but perioral dystonia occurred within 2 days. During medication with venlafaxine 150mg/d, diplopia, action tremor and weakness were noted. Wilsons’ disease was subsequently diagnosed and copper-chelating therapy with trientine-dihydrochloride initiated. Discontinuation of venlafaxine ameliorated the motor symptoms, but they returned after its reinstatement during trientine treatment. Also under medication with sertraline 50mg/d, there was perioral and tongue dystonia, dysarthria, blepharospasm and gait disturbance, which were partially reversible when sertraline was stopped. The patient’s anxiety was controlled symptomatically with oxazepam without worsening of extrapyramidal symptoms. MRI showed hyperintensities in the pons, mesencephalon, claustrum and pyramidal tracts. Glucose metabolism and dopamine reuptake capacity were reduced bilaterally in the basal ganglia. Conclusions: Wilson’s disease increases the vulnerability to side effects from SSRI and SNRIs. Previously, acute dystonia has been described in a WD patient receiving clomipramine [1]. Both the imbalance of copper metabolism inherent to WD [2] and treatment with SSRIs [3,4] or SNRIs [5] are known causes of dystonia, and we suggest an additive effect when both factors were present simultaneously. The patient described showed imaging abnormalities in the mesencephalon and upper brain