Annals of Movement Disorders最新文献

{"title":"Jerky dystonic tremor: a less-recognized feature of DYT-THAP1","authors":"Narendrakumar Barad","doi":"10.4103/AOMD.AOMD_45_20","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_45_20","url":null,"abstract":"Dystonia is a very complex movement disorder. Recently, the classification of dystonia has been updated by a group of experts to simplify the clinical approach to dystonia. As per this new classification, clinically we can divide dystonia into either isolated or combined dystonia. In the isolated group, dystonia is the only feature with or without tremor. In the isolated dystonia (DYT) group, DYT-TOR1A and DYT-THAP1 are the commoner entities worldwide. In DYT-THAP1 cases, apart from classic generalized dystonia phenotype, appendicular tremor has also been described. However, in some cases, it could be jerky and may create confusion with myoclonus. To prevent this confusion and subsequent investigations in the line of myoclonic dystonic syndromes, identification of this jerky tremor assumes great clinical significance. Hereby, we are describing a genetically confirmed DYT-THAP1 patient with a jerky dystonic tremor of upper limbs.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 1","pages":"96 - 98"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42397725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chorea associated with infections: A narrative review","authors":"R. Yadav, Shankar Vijay, S. Desai","doi":"10.4103/AOMD.AOMD_12_21","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_12_21","url":null,"abstract":"In tropical countries like India, infections of the central nervous system (CNS) and their varied complications are often encountered. Movement disorders (MDs) are reported to be a complication of infectious diseases, and the spectrum of MDs differs in tropical countries from other developed countries. We screened three electronic databases to search for cases of chorea as a presenting feature of infections, collected cases, and series describing chorea associated with infections. The studies were identified later and data were extracted regarding study design, sample size, neurological assessment, and diagnostic workup including brain imaging and cerebrospinal fluid analysis. After a detailed review of 283 different articles in the selection, a total of 33 articles were included in the final manuscript. In this narrative review, we review the important contributions in the field of chorea related to infections and discuss the salient features of infections of the CNS which can present with chorea. The infections presenting with chorea include streptococcal infections, tuberculosis, neurosyphilis, Japanese encephalitis, herpes simplex encephalitis, and neurocysticercosis. The hypothesized mechanisms of infection-related dystonia are vasculopathy, space-occupying lesions, autoimmune reaction, and inflammation. Although chorea is considered to be a result of heredodegenerative, metabolic, or autoimmune disorders lesions, infections may also present with chorea, especially in tropical and developing countries.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 1","pages":"51 - 59"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41339813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ADCY5-related dyskinesia with myoclonus-dystonia syndrome: Clues to diagnosis","authors":"U. Saraf, Mitesh Chandarana, K. Divya, Syam Krishnan","doi":"10.4103/AOMD.AOMD_44_20","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_44_20","url":null,"abstract":"ADCY5-related dyskinesia is a childhood-onset autosomal dominant disorder that is caused by gain-of-function mutations in the ADCY5 gene. The core clinical features include a varying combination of hyperkinetic movement disorders (chorea, athetosis, dystonia, or myoclonus), orofacial dyskinesia, nocturnal exacerbations of dyskinesias while falling asleep, and axial hypotonia. We report two patients diagnosed with ADCY5-related dyskinesia, with myoclonus-dystonia presentation, and elaborate the clinical clues for diagnosis.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 1","pages":"86 - 88"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41340484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vascular Parkinsonism and Parkinson’s disease: a prospective, clinico-radiological comparative study","authors":"Shivani Rath, Ananda Kumar, A. Pathak, A. Verma, V. Singh, R. Chaurasia, V. Mishra, D. Joshi","doi":"10.4103/AOMD.AOMD_53_20","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_53_20","url":null,"abstract":"BACKGROUND: Vascular parkinsonism (VP) is an atypical Parkinsonian syndrome that is believed to have a temporal association with cerebrovascular disease. However, now it is evolving as a heterogeneous entity with no clear consensus on the definition and diagnostic criteria. AIM AND OBJECTIVES: This study aimed at evaluating the clinico-radiological profile of patients with VP and Parkinson’s disease (PD). MATERIALS AND METHODS: The present study was conducted at a tertiary care university hospital. A total of 80 patients, with a diagnosis of probable VP (40) and PD (40), were evaluated and compared with Unified Parkinson’s Disease Rating Scale (UPDRS) part III, gait scale, Mini-Mental State Examination (MMSE), Frontal Assessment Battery (FAB), and MRI brain. RESULTS: Significantly older age of onset (P = 0.005), higher vascular risk factors (P < 0.001), and motor scores in UPDRS part III (P < 0.001), gait scale (P < 0.001), and modified Hoehn and Yahr (P < 0.001) were seen in the VP as compared with the PD. On the cognitive scales, patients with VP scored significantly lower in MMSE (19.92 ± 6.0 vs. 24.90 ± 3.34; P < 0.001) and FAB (7.75 ± 4.27 vs. 11.22 ± 2.75; P < 0.001); on the modified Hachinski scale (7.77 ± 3.19 vs. 3.30 ± 1.97; P < 0.001), they scored higher compared with patients with PD. Periventricular ischemic changes, generalized brain atrophy, and multiple lacunar infarcts were the most common radiological abnormality found significantly more in patients with VP. CONCLUSION: An older age, worse cognitive scores and motor scores, and more profound periventricular and subcortical lesions on MRI favored VP.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 1","pages":"80 - 85"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43726079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Learning from negative consequences is impaired by STN-DBS and levodopa in Parkinson’s disease","authors":"Abhinav Raina, R. Rajan, Gangadhara Sarma, Syam Krishnan, Krishnakumar Kesavapisharady, A. Kishore","doi":"10.4103/AOMD.AOMD_54_20","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_54_20","url":null,"abstract":"CONTEXT: Subthalamic nucleus deep brain stimulation (STN-DBS) and levodopa therapy are reported to produce impulsivity in PD. We tested the hypothesis that STN-DBS enhances impulsive decision-making and that this effect is masked by the beneficial influence of the concomitant reduction in levodopa therapy. AIMS: To compare learning from negative consequences in patients with PD receiving STN-DBS to those without surgery. SETTINGS AND DESIGN: We conducted a prospective study in the Movement Disorder Clinic of a tertiary care university hospital in India, recruiting 26 PD patients treated with STN-DBS (PD-DBS) and 25 matched control patients on medical therapy (PD-MED) alone. METHODS: Impulsivity and decision-making were assessed using the Iowa Gambling Task (IGT) at baseline and 3 months. Dopamine agonist dose was unchanged during the study period. IGT total and block scores were used to assess impulsive decision-making and task learning. STATISTICAL ANALYSIS: General linear mixed model involving repeated measures ANOVA was used to compare IGT total and block scores. RESULTS: There was no independent effect of STN-DBS on the IGT total score (P = 0.198). In the PD-DBS group, block scores worsened after surgery with a negative slope across blocks, suggesting a lack of task learning [TIMEFNx01BLOCKFNx01INTERVENTION [F (4, 46) = 4.810, P = 0.003, partial Eta-squared = 0.095]. In the PD-MED group, block scores were seen to improve from baseline and across the blocks. These contrasting effects remained robust when tested in the Drug ON or OFF states. In the PD-DBS group, better task learning and higher block 5 scores were associated with greater post-operative reductions in total LEDD [TIMEFNx01BLOCKFNx01LEDD [F (4, 46) = 3.818, P = 0.012, partial Eta-squared = 0.077]. CONCLUSIONS: STN-DBS did not independently affect a global measure of decision making. However, STN-DBS and dopaminergic medications were shown to exert subtle yet significant opposing effects on the ability to learn from negative consequences.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 1","pages":"66 - 72"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43221398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dysphagia in Parkinson’s disease: Analysis of screening questionnaire and videofluoroscopy findings","authors":"R. Aarthi, S. Radhakrishnan, S. Vidhyadharan, U. Menon, Chandrababu Arya, Krishnakumar Thankappan","doi":"10.4103/AOMD.AOMD_43_20","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_43_20","url":null,"abstract":"Background: Dysphagia is a common symptom of Parkinson’s disease (PD), which is often overlooked. Reliable screening methods for definitive radiological investigation need to be developed. Objectives: To analyze the objective videofluoroscopic study of swallowing (VFSS) findings in PD patients screened using a validated 11-item swallowing disturbance questionnaire (SDQ) and to check for a correlation between the questionnaire and VFSS scale scores, as well as the sensitivity of SDQ to detect abnormal VFSS findings. Material and Methods: PD patients attending a movement disorder clinic were screened using SDQ and underwent VFSS. The findings were recorded and objectively rated by experienced speech and language pathologists using standardized scales. Statistical analysis was performed to check for correlation. Results: Twelve patients were enrolled in the study. Their SDQ scores ranged from 2 to 16. Of the 11 questions, six were checked for correlation with VFSS findings. Bolus stuck in the mouth was reported by four patients; all displayed corresponding VFSS findings. Oral residue was reported by nine, of which seven showed VFSS findings. Multiple swallows were reported by eight, and VFSS findings were observed in seven of them. Overall, even at very low scores, abnormalities were observed in corresponding VFSS parameters. However, no statistical significance (P > 0.05) was found between the SDQ scores and VFSS parameters. Conclusion: VFSS analysis revealed abnormal oropharyngeal swallowing parameters, which corresponded with the SDQ scores, but without statistical significance. Therefore, our questionnaire is a useful tool to predict VFSS findings in PD patients.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 1","pages":"73 - 79"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49598963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MT-ND5 gene mutation-associated mitochondrial complex I cytopathy in Leigh syndrome presenting as writer’s cramp: A case report","authors":"V. Agarwal, Dolly Mushahary, A. Venkitachalam, S. Babu, D. Nayak","doi":"10.4103/AOMD.AOMD_38_20","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_38_20","url":null,"abstract":"Leigh syndrome is a classical mitochondrial cytopathy with multisystemic presentation that can lead to death in the first few years of life; however, cases in adults have also been reported. In this study, we report the case of an adolescent female presenting with writer’s cramp associated with the MT-ND5 gene mutation, diagnosed after observation of brain abnormalities on magnetic resonance imaging (MRI) and biochemical changes suggestive of mitochondrial cytopathy. The patient responded to botulinum toxin injection. To the best of our knowledge, ours is the first case report on focal dystonic presentation associated with the MT-ND5 gene mutation (with unclear pathogenicity) as a mild form of Leigh syndrome in adolescents.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 1","pages":"92 - 95"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41616678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delayed cervicobrachial segmental dystonia secondary to ipsilateral cerebellar infarction","authors":"V. Holla, S. Chaithra, S. Prasad, P. Pal","doi":"10.4103/AOMD.AOMD_32_20","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_32_20","url":null,"abstract":"Dystonia is the most common delayed movement disorder poststroke with basal ganglia involvement seen in the majority of them. Dystonia usually develops within 1 year of stroke. We report a case of poststroke cervicobrachial segmental dystonia which developed after 9 years of ipsilateral cerebellar stroke. Dystonia can be a sequela of cerebellar stroke, and may occur even after a prolonged latency. This should be considered in a case of segmental dystonia with the past history of cerebellar stroke.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 1","pages":"89 - 91"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41950375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Morphometric mapping of the macrostructural abnormalities of midsagittal corpus callosum in Wilson's disease.","authors":"Albert Stezin,&nbsp;Venkateswara Reddy Reddam,&nbsp;Shantala Hegde,&nbsp;Ravi Yadav,&nbsp;Jitender Saini,&nbsp;Pramod Kumar Pal","doi":"10.4103/AOMD.AOMD_41_20","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_41_20","url":null,"abstract":"<p><strong>Background and purpose: </strong>The corpus callosum (CC) consists of topographically arranged white matter (WM) fibers. Previous studies have indicated the CC to be discretely involved in WD. In this study, we strived to characterize the macrostructural properties of the CC using midsagittal cross-sectional area and thickness profile measurements.</p><p><strong>Materials and methods: </strong>This study was performed using archived magnetic resonance imaging (MRI) scans of 14 patients with WD and 14 age- and gender-matched healthy controls. Using an automated software pipeline for morphometric profiling, the midsagittal CC was segmented into five sub-regions (CC_1-5) according to the Hofer-Frahm scheme. The mean thickness and area of different CC segments and their clinical and cognitive correlates were identified.</p><p><strong>Results: </strong>The mean area was significantly different only in CC₂ segment (94.2 ± 25.5 vs. 118.6 ± 19.7 mm², corrected <i>P</i> < 0.05). The mean thickness was significantly different in CC₁ (5.06 ± 1.15 vs. 6.93 ± 0.89 mm, corrected <i>P</i> < 0.05), CC₂ (3.73 ± 0.96 vs. 4.87 ± 1.01 mm, corrected <i>P</i> < 0.05), and CC₃ segments (3.42 ± 0.84 vs. 3.94 ± 0.72 mm, corrected <i>P</i> < 0.05). The age at onset of neurological symptoms and MMSE score was significantly correlated with the morphometric changes of CC₁ and CC₂ segments.</p><p><strong>Conclusion: </strong>Morphological changes of the CC are discrete in WD. Morphometric loss of CC was associated with an earlier onset of neurological symptoms and cognitive dysfunction in WD.</p>","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 2","pages":"60-65"},"PeriodicalIF":0.0,"publicationDate":"2021-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/74/5e/EMS150885.PMC7613241.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40700373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Huntington’s disease—not just a disease of brain but mind as well!!","authors":"A. Chouksey, S. Pandey","doi":"10.4103/AOMD.AOMD_11_21","DOIUrl":"https://doi.org/10.4103/AOMD.AOMD_11_21","url":null,"abstract":"","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"4 1","pages":"1 - 3"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46516218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}