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INS;Parkinsonism and truncal akathisia: Three case reports
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Abstracts / Journal of the Neurological Sciences 333 (2013) e109–e151
Conclusions: HD is associated with a widespread neurodegeneration of the cerebellum and brainstem and represents a multisystem neurodegenerative disease. Damage to the cerebellum and brainstem contributes to poorly understood HD disease symptoms (i.e. impaired rapid alternating movements, dysarthria, ataxia and postural instability, gait and stance imbalance, broad-based gait and stance, oculomotor dysfunctions). doi:10.1016/j.jns.2013.07.471
Abstract — WCN 2013 No: 494 Topic: 2 — Movement Disorders Fatigue syndrome and white matter changes in patients with Parkinson's disease: Does link exist? V. Datieva, O. Levin. Russian Medical Academy of Postgraduate Education, Moscow, Russia Background: White matter changes (WMC), caused by concomitant cerebrovascular disease (CVD), appear on MRI in part of elderly patients with Parkinson's disease (PD). However clinical significance of WMC in genesis and severity of non-motor symptoms, including fatigue syndrome (FS), remain unclear. Objective: To define association between FS and WMC in patients with PD. Materials and methods: 20 PD patients with FS were compared with 18 PD patients without it. Groups were compared for presence of WMC. Following methods were applied: UPDRS, PD's fatigue scale (PFS), Autonomic impairment scale (Levin O.S., 2003), and Fazekas Scale (FaS). The patients underwent brain 1.5-T MRI (Avanto Siemens; Siemens AG, Erlangen, Germany). Middle ages of the patients were 64.5 ± 6.5 and 63.9 ± 7.5. PD's stages were 2.6 ± 0.5 and 2.45 ± 1.1, disease's durations were 5.9 ± 4.04 and 4.4 ± 2.85 correspondingly. Results: In the 1st group of PD patients with FS WMC were marked in 65% cases, in the control-in 47%. PFS scores were 3.88 ± 0.36 in the 1st group and 2.37 ± 0.6 in the control. FaS was 0.9 ± 0.7 in the 1st group, 0.47 ± 0.51 in the control. Autonomic disturbances in the 1st group were 7.1 ± 2.9, in the control 4.2 ± 2.4. Among them cardiovascular disturbances were 3.15 ± 1.59 in the 1st group, 1.15 ± 1.1 in the control. UPDRS scores were 84.4 ± 21.5 in the 1st group and 68.0 ± 40.3 in the control. Conclusions: WMC and autonomic disturbances occur more often among PD patients with FS. This fact can imply that orthostatic hypotension influences both neuroimaging data and genesis of FS. Orthostatic hypotension can be accompanied by hypertension in supine position, which promotes WMC. doi:10.1016/j.jns.2013.07.472
Abstract — WCN 2013 No: 478 Topic: 2 — Movement Disorders Levosulpiride induced common and uncommon movement disorders—Parkinsonism and truncal akathisia: Three case reports J.B. Sharma, S.K. Saxena, A. Singh. Neurology, Fortis Hospital Noida, Noida, India Background: Levosulpiride is a substituted benzamide that is widely used for the management of dyspepsia and emesis. Because it exerts its pharmacologic activity mainly by blocking dopaminergic D2 receptor activity, levosulpiride can cause extrapyramidal symptoms, most of which are generalized parkinsonism followed by lower face dyskinesia. We report three cases of levosulpiride induced common and uncommon movement disorders.
Objective: To highlight levosulpiride induced movement disorders especially rare one like akathisia. Patients and methods: We report three patients of levosulpiride induced movement disorders seen in our centre during July 2010 to September 2012. Two were male and one female with average age of 75.33 years. Two of these patients presented with symmetric parkinsonism and one with truncal akathisia. The longest duration of levosulpiride exposure at a dose of 75 mg/day, was one year and shortest one week. The onset was sub-acute in two patients and acute in one patient. Results: Two patients exhibited resolution of parkinsonism upon cessation of levosulpiride. The interval from cessation of levosulpiride to disappearance of parkinsonism was 10 days and 30 days. One patient who had truncal akathisia continued to have symptoms despite drug withdrawal. Conclusion: Although generalised parkinsonism is most frequently reported adverse effect of levosulpiride as seen in our patients also, awareness of rare movement disorder like truncal akathisia is crucial for management. doi:10.1016/j.jns.2013.07.473
Abstract — WCN 2013 No: 450 Topic: 2 — Movement Disorders Genetic deconvolution of cerebellar ataxias in India through next generation sequencing: Novel mutations in atypical and typical genetic loci M. Faruqa,b, A. Naranga, R. Kumaria, D. Dasha, A.K. Srivastavab, M. Mukerjia. aGenomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, India; bNeurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India Introduction: Genetic characterization has lead to the identification of nearly 60 causal loci in ataxias. The prevalence of ataxia types with respective genetic defect varies geographically. The genetic testing of each known ataxic associated variation for uncharacterized phenotype is challenging and cost/time expensive. Objective: In our ataxic cohort (n = 1000) majority being NorthIndian families, more than half of the cases (~57%) are genetically uncharacterized (UC). We aimed to delineate genetic defect in uncharacterized cases using next generation sequencing platform. Methodology: We carried out exome-sequencing for 12 individuals from three uncharacterized families of recessive inheritance manifesting typical FRDA or unique phenotype such as infantile onset ataxia with hearing loss or seizures. Results: Clinical investigations and exome sequencing in one family reveal association of GAA expansion negative FRDA phenotype with novel homozygous frame-shift mutation in SACS (Autosomal recessive ataxia of Charlevoix-Saguenay) locus. In second family with infantile onset ataxia and hearing loss we identified a novel homozygous missense mutation in c10orf2. In remaining family with juvenile onset ataxia and generalized seizures we identified novel compound heterozygous mutations in CLN6 (Ceroid-Lipofuscinosis Neuronal 6). Conclusion: We have identified novel mutation loci in typical known recessive ataxic phenotype and compound novel heterozygous mutations in CLN6 a known locus for seizures–dementia–visual failure being associated with atypical manifestation of predominant ataxia and seizures. Further, this study emphasizes the prudent role of exome sequencing technology in delineation of genetic etiology in a rare and other genetically heterogeneous ataxic disorders. doi:10.1016/j.jns.2013.07.474
Abstracts / Journal of the Neurological Sciences 333 (2013) e109–e151
Conclusions: HD is associated with a widespread neurodegeneration of the cerebellum and brainstem and represents a multisystem neurodegenerative disease. Damage to the cerebellum and brainstem contributes to poorly understood HD disease symptoms (i.e. impaired rapid alternating movements, dysarthria, ataxia and postural instability, gait and stance imbalance, broad-based gait and stance, oculomotor dysfunctions). doi:10.1016/j.jns.2013.07.471
Abstract — WCN 2013 No: 494 Topic: 2 — Movement Disorders Fatigue syndrome and white matter changes in patients with Parkinson's disease: Does link exist? V. Datieva, O. Levin. Russian Medical Academy of Postgraduate Education, Moscow, Russia Background: White matter changes (WMC), caused by concomitant cerebrovascular disease (CVD), appear on MRI in part of elderly patients with Parkinson's disease (PD). However clinical significance of WMC in genesis and severity of non-motor symptoms, including fatigue syndrome (FS), remain unclear. Objective: To define association between FS and WMC in patients with PD. Materials and methods: 20 PD patients with FS were compared with 18 PD patients without it. Groups were compared for presence of WMC. Following methods were applied: UPDRS, PD's fatigue scale (PFS), Autonomic impairment scale (Levin O.S., 2003), and Fazekas Scale (FaS). The patients underwent brain 1.5-T MRI (Avanto Siemens; Siemens AG, Erlangen, Germany). Middle ages of the patients were 64.5 ± 6.5 and 63.9 ± 7.5. PD's stages were 2.6 ± 0.5 and 2.45 ± 1.1, disease's durations were 5.9 ± 4.04 and 4.4 ± 2.85 correspondingly. Results: In the 1st group of PD patients with FS WMC were marked in 65% cases, in the control-in 47%. PFS scores were 3.88 ± 0.36 in the 1st group and 2.37 ± 0.6 in the control. FaS was 0.9 ± 0.7 in the 1st group, 0.47 ± 0.51 in the control. Autonomic disturbances in the 1st group were 7.1 ± 2.9, in the control 4.2 ± 2.4. Among them cardiovascular disturbances were 3.15 ± 1.59 in the 1st group, 1.15 ± 1.1 in the control. UPDRS scores were 84.4 ± 21.5 in the 1st group and 68.0 ± 40.3 in the control. Conclusions: WMC and autonomic disturbances occur more often among PD patients with FS. This fact can imply that orthostatic hypotension influences both neuroimaging data and genesis of FS. Orthostatic hypotension can be accompanied by hypertension in supine position, which promotes WMC. doi:10.1016/j.jns.2013.07.472
Abstract — WCN 2013 No: 478 Topic: 2 — Movement Disorders Levosulpiride induced common and uncommon movement disorders—Parkinsonism and truncal akathisia: Three case reports J.B. Sharma, S.K. Saxena, A. Singh. Neurology, Fortis Hospital Noida, Noida, India Background: Levosulpiride is a substituted benzamide that is widely used for the management of dyspepsia and emesis. Because it exerts its pharmacologic activity mainly by blocking dopaminergic D2 receptor activity, levosulpiride can cause extrapyramidal symptoms, most of which are generalized parkinsonism followed by lower face dyskinesia. We report three cases of levosulpiride induced common and uncommon movement disorders.
Objective: To highlight levosulpiride induced movement disorders especially rare one like akathisia. Patients and methods: We report three patients of levosulpiride induced movement disorders seen in our centre during July 2010 to September 2012. Two were male and one female with average age of 75.33 years. Two of these patients presented with symmetric parkinsonism and one with truncal akathisia. The longest duration of levosulpiride exposure at a dose of 75 mg/day, was one year and shortest one week. The onset was sub-acute in two patients and acute in one patient. Results: Two patients exhibited resolution of parkinsonism upon cessation of levosulpiride. The interval from cessation of levosulpiride to disappearance of parkinsonism was 10 days and 30 days. One patient who had truncal akathisia continued to have symptoms despite drug withdrawal. Conclusion: Although generalised parkinsonism is most frequently reported adverse effect of levosulpiride as seen in our patients also, awareness of rare movement disorder like truncal akathisia is crucial for management. doi:10.1016/j.jns.2013.07.473
Abstract — WCN 2013 No: 450 Topic: 2 — Movement Disorders Genetic deconvolution of cerebellar ataxias in India through next generation sequencing: Novel mutations in atypical and typical genetic loci M. Faruqa,b, A. Naranga, R. Kumaria, D. Dasha, A.K. Srivastavab, M. Mukerjia. aGenomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, India; bNeurology, All India Institute of Medical Sciences (AIIMS), New Delhi, India Introduction: Genetic characterization has lead to the identification of nearly 60 causal loci in ataxias. The prevalence of ataxia types with respective genetic defect varies geographically. The genetic testing of each known ataxic associated variation for uncharacterized phenotype is challenging and cost/time expensive. Objective: In our ataxic cohort (n = 1000) majority being NorthIndian families, more than half of the cases (~57%) are genetically uncharacterized (UC). We aimed to delineate genetic defect in uncharacterized cases using next generation sequencing platform. Methodology: We carried out exome-sequencing for 12 individuals from three uncharacterized families of recessive inheritance manifesting typical FRDA or unique phenotype such as infantile onset ataxia with hearing loss or seizures. Results: Clinical investigations and exome sequencing in one family reveal association of GAA expansion negative FRDA phenotype with novel homozygous frame-shift mutation in SACS (Autosomal recessive ataxia of Charlevoix-Saguenay) locus. In second family with infantile onset ataxia and hearing loss we identified a novel homozygous missense mutation in c10orf2. In remaining family with juvenile onset ataxia and generalized seizures we identified novel compound heterozygous mutations in CLN6 (Ceroid-Lipofuscinosis Neuronal 6). Conclusion: We have identified novel mutation loci in typical known recessive ataxic phenotype and compound novel heterozygous mutations in CLN6 a known locus for seizures–dementia–visual failure being associated with atypical manifestation of predominant ataxia and seizures. Further, this study emphasizes the prudent role of exome sequencing technology in delineation of genetic etiology in a rare and other genetically heterogeneous ataxic disorders. doi:10.1016/j.jns.2013.07.474