F. Cavallieri, F. Valzania, L. Vercueil, E. Moro, V. Fraix
Background Peripherally induced movement disorders (PIMDs) represent a rare and debated complication of peripheral trauma. Phenomenology Shown We report a case of task-specific “lipstick” jerky dystonic tremor as a consequence of traumatic shoulder injury, successfully treated with EMG-guided botulinum toxin injections. Educational Value This case expands the phenotypic spectrum of PIMDs, with a visual example of a task-specific dystonic tremor after peripheral trauma, and the efficacy of EMG-guided botulinum toxin treatment in the setting of posttraumatic dystonic tremor.
{"title":"A Case of Peripherally Induced Task-Specific “Lipstick Dystonic Tremor”","authors":"F. Cavallieri, F. Valzania, L. Vercueil, E. Moro, V. Fraix","doi":"10.7916/tohm.v0.689","DOIUrl":"https://doi.org/10.7916/tohm.v0.689","url":null,"abstract":"Background Peripherally induced movement disorders (PIMDs) represent a rare and debated complication of peripheral trauma. Phenomenology Shown We report a case of task-specific “lipstick” jerky dystonic tremor as a consequence of traumatic shoulder injury, successfully treated with EMG-guided botulinum toxin injections. Educational Value This case expands the phenotypic spectrum of PIMDs, with a visual example of a task-specific dystonic tremor after peripheral trauma, and the efficacy of EMG-guided botulinum toxin treatment in the setting of posttraumatic dystonic tremor.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49553224","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}
A. T. Meira, W. Arruda, S. Ono, A. C. Neto, S. Raskin, C. Camargo, H. Teive
Background The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs – clinical, laboratorial, and neuroradiological (NR) – can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs. Methods We conducted a literature search on this topic. Results The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; “hot cross bun sign”, and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy. Discussion The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.
{"title":"Neuroradiological Findings in the Spinocerebellar Ataxias","authors":"A. T. Meira, W. Arruda, S. Ono, A. C. Neto, S. Raskin, C. Camargo, H. Teive","doi":"10.7916/tohm.v0.682","DOIUrl":"https://doi.org/10.7916/tohm.v0.682","url":null,"abstract":"Background The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs – clinical, laboratorial, and neuroradiological (NR) – can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs. Methods We conducted a literature search on this topic. Results The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; “hot cross bun sign”, and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy. Discussion The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42372251","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}
Bisena Bulica, Christos Sidiropoulos, A. Mahajan, Andrew Zillgitt, Patricia Kaminski, S. Bowyer
Background Embouchure dystonia (ED) is a task-specific dystonia affecting musicians thought to be related to alteration in sensorimotor processing and loss of cortical inhibition. Case Report Magnetoencephalography-coherence source imaging (MEG-CSI) was used to map connectivity between brain regions by imaging neuronal oscillations that are coherent across the brain in patient with ED at rest and while using the index finger to evoke dystonia normally triggered by playing the flute. Discussion During rest, there was increased coherence in the bilateral frontal and parietal regions that became more focal during dystonia. Diffuse hyperexcitability and increased coherence persisted in bilateral parietal regions as well as the bilateral frontal regions.
{"title":"Sensorimotor Integration and GABA-ergic Activity in Embouchure Dystonia: An Assessment with Magnetoencephalography","authors":"Bisena Bulica, Christos Sidiropoulos, A. Mahajan, Andrew Zillgitt, Patricia Kaminski, S. Bowyer","doi":"10.7916/tohm.v0.709","DOIUrl":"https://doi.org/10.7916/tohm.v0.709","url":null,"abstract":"Background Embouchure dystonia (ED) is a task-specific dystonia affecting musicians thought to be related to alteration in sensorimotor processing and loss of cortical inhibition. Case Report Magnetoencephalography-coherence source imaging (MEG-CSI) was used to map connectivity between brain regions by imaging neuronal oscillations that are coherent across the brain in patient with ED at rest and while using the index finger to evoke dystonia normally triggered by playing the flute. Discussion During rest, there was increased coherence in the bilateral frontal and parietal regions that became more focal during dystonia. Diffuse hyperexcitability and increased coherence persisted in bilateral parietal regions as well as the bilateral frontal regions.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":"3 3","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41296976","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}
Nester Mitchell, Gaynel A. LaTouche, Beverly Nelson, K. Figueroa, R. Walker, Andrew K. Sobering
Background Orthostatic tremor (OT) is a rare symmetric tremor disorder occasionally observed in association with other movement disorders. Case report We report the presence of a fast OT in a case of Parkinson’s disease (PD), and provide a comprehensive review of the literature. Discussion A fast OT presenting as unsteadiness may be a presenting symptom of PD. This symptom may be nonresponsive to levodopa, and benzodiazepines should be prescribed to adequately control the OT and reduce disability.
{"title":"Fast Orthostatic Tremor in Parkinson’s Disease: Case Report and Comprehensive Review of Literature","authors":"Nester Mitchell, Gaynel A. LaTouche, Beverly Nelson, K. Figueroa, R. Walker, Andrew K. Sobering","doi":"10.7916/tohm.v0.670","DOIUrl":"https://doi.org/10.7916/tohm.v0.670","url":null,"abstract":"Background Orthostatic tremor (OT) is a rare symmetric tremor disorder occasionally observed in association with other movement disorders. Case report We report the presence of a fast OT in a case of Parkinson’s disease (PD), and provide a comprehensive review of the literature. Discussion A fast OT presenting as unsteadiness may be a presenting symptom of PD. This symptom may be nonresponsive to levodopa, and benzodiazepines should be prescribed to adequately control the OT and reduce disability.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41388114","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}
M. Higuchi, R. Roemmich, D. Martinez-Ramirez, Jaimie A. Roper, Lisa A. Zukowski, K. Foote, M. Okun, C. Hass
Background Essential tremor (ET) is a common movement disorder characterized by kinetic and postural tremor in the upper extremities and frequently in the midline. Persons with ET often also exhibit gait ataxia. Previous studies have observed associations between midline tremor severity and gait ataxia in persons with ET, suggesting a common pathophysiology distinct from that of upper extremity tremor. However, a causal link between midline tremor and gait impairment has not been established. Methods We investigated tremor and gait in 24 persons with ET before and after implantation of unilateral deep brain stimulation into the ventralis intermedius nucleus of the thalamus. Results Stimulation significantly improved tremor in the targeted upper extremity and midline. However, gait was unaffected at the cohort level. Furthermore, improvement in midline tremor was not significantly associated with gait improvement. Discussion These findings revealed that midline tremor and gait impairment may be dissociable in persons with ET.
{"title":"Changes in Midline Tremor and Gait Following Deep Brain Stimulation for Essential Tremor","authors":"M. Higuchi, R. Roemmich, D. Martinez-Ramirez, Jaimie A. Roper, Lisa A. Zukowski, K. Foote, M. Okun, C. Hass","doi":"10.7916/tohm.v0.684","DOIUrl":"https://doi.org/10.7916/tohm.v0.684","url":null,"abstract":"Background Essential tremor (ET) is a common movement disorder characterized by kinetic and postural tremor in the upper extremities and frequently in the midline. Persons with ET often also exhibit gait ataxia. Previous studies have observed associations between midline tremor severity and gait ataxia in persons with ET, suggesting a common pathophysiology distinct from that of upper extremity tremor. However, a causal link between midline tremor and gait impairment has not been established. Methods We investigated tremor and gait in 24 persons with ET before and after implantation of unilateral deep brain stimulation into the ventralis intermedius nucleus of the thalamus. Results Stimulation significantly improved tremor in the targeted upper extremity and midline. However, gait was unaffected at the cohort level. Furthermore, improvement in midline tremor was not significantly associated with gait improvement. Discussion These findings revealed that midline tremor and gait impairment may be dissociable in persons with ET.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47575094","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}
Ahmad Elkouzi, T. Tsuboi, Matthew R Burns, R. Eisinger, Amar Patel, Wissam Deeb
Clinical vignette A 68-year-old man with Parkinson’s disease (PD) had bilateral GPi DBS placed for management of his motor fluctuations. He developed stimulation-induced dyskinesia (SID) with left dorsal GPi stimulation. Clinical dilemma What do we know about SID in PD patients with GPi DBS? What are the potential strategies used to maximize the DBS therapeutic benefit and minimize the side effects of stimulation? Clinical solution Avoiding the contact implicated in SID and programming more ventral contacts, using lower voltage, frequency and pulse width and programming in bipolar configuration all appear to help minimize the SID and provide appropriate symptomatic motor control. Gap in knowledge Little is known about SID in patients with PD who had GPi DBS therapy. More studies using volume of tissue activated and diffusion tensor imaging MRI are needed to localize specific tracts in or around the GPi that may be implicated in SID.
{"title":"Dorsal GPi/GPe Stimulation Induced Dyskinesia in a Patient with Parkinson’s Disease","authors":"Ahmad Elkouzi, T. Tsuboi, Matthew R Burns, R. Eisinger, Amar Patel, Wissam Deeb","doi":"10.7916/tohm.v0.685","DOIUrl":"https://doi.org/10.7916/tohm.v0.685","url":null,"abstract":"Clinical vignette A 68-year-old man with Parkinson’s disease (PD) had bilateral GPi DBS placed for management of his motor fluctuations. He developed stimulation-induced dyskinesia (SID) with left dorsal GPi stimulation. Clinical dilemma What do we know about SID in PD patients with GPi DBS? What are the potential strategies used to maximize the DBS therapeutic benefit and minimize the side effects of stimulation? Clinical solution Avoiding the contact implicated in SID and programming more ventral contacts, using lower voltage, frequency and pulse width and programming in bipolar configuration all appear to help minimize the SID and provide appropriate symptomatic motor control. Gap in knowledge Little is known about SID in patients with PD who had GPi DBS therapy. More studies using volume of tissue activated and diffusion tensor imaging MRI are needed to localize specific tracts in or around the GPi that may be implicated in SID.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45964288","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}
Background Self-injurious behaviour has historically been associated with borderline personality disorder. Nevertheless, over recent years, it has been reported in numerous neurological syndromes, especially hyperkinesias. Case report Two cases of SCA17 manifested self-injurious behaviour, namely repetitive scratching of the skin resulting in severe excoriations. In one of them, the abnormal behaviour was associated with the inability to resist the impulse to commit the act along with relief following the damage. Discussion This is the first report describing self-injurious behaviour in SCA17, but the mechanisms underlying it are still not clear. Further studies are needed to clarify the pathophysiology of such manifestation in hyperkinetic syndromes.
{"title":"Self-Injurious Behaviour in SCA17: A New Clinical Observation","authors":"R. Bonomo, A. Latorre, K. Bhatia","doi":"10.7916/tohm.v0.672","DOIUrl":"https://doi.org/10.7916/tohm.v0.672","url":null,"abstract":"Background Self-injurious behaviour has historically been associated with borderline personality disorder. Nevertheless, over recent years, it has been reported in numerous neurological syndromes, especially hyperkinesias. Case report Two cases of SCA17 manifested self-injurious behaviour, namely repetitive scratching of the skin resulting in severe excoriations. In one of them, the abnormal behaviour was associated with the inability to resist the impulse to commit the act along with relief following the damage. Discussion This is the first report describing self-injurious behaviour in SCA17, but the mechanisms underlying it are still not clear. Further studies are needed to clarify the pathophysiology of such manifestation in hyperkinetic syndromes.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47307453","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}
T. E. Poloni, A. Galli, A. Carlos, E. Riva, V. Medici, A. Davin, A. Guaita, M. Ceroni
Tino Emanuele Poloni1,2*, Alberto Galli3, Arenn Faye Carlos1, Emanuela Riva2, Valentina Medici1, Annalisa Davin1, Antonio Guaita1 & Mauro Ceroni1,4 1Department of Neurology and Neuropathology, Golgi-Cenci Foundation, Milan, IT, 2Department of Rehabilitation, ASP Golgi-Redaelli, Milan, IT, 3Department of Neurology, San Carlo Borromeo Hospital, Milan, IT, 4Department of Neurological Science, IRCCS “Istituto Neurologico C. Mondino” Foundation, University of Pavia, Pavia, IT
{"title":"Reversible Holmes Tremor due to Middle Cerebral Artery Giant Aneurysm","authors":"T. E. Poloni, A. Galli, A. Carlos, E. Riva, V. Medici, A. Davin, A. Guaita, M. Ceroni","doi":"10.7916/tohm.v0.695","DOIUrl":"https://doi.org/10.7916/tohm.v0.695","url":null,"abstract":"Tino Emanuele Poloni1,2*, Alberto Galli3, Arenn Faye Carlos1, Emanuela Riva2, Valentina Medici1, Annalisa Davin1, Antonio Guaita1 & Mauro Ceroni1,4 1Department of Neurology and Neuropathology, Golgi-Cenci Foundation, Milan, IT, 2Department of Rehabilitation, ASP Golgi-Redaelli, Milan, IT, 3Department of Neurology, San Carlo Borromeo Hospital, Milan, IT, 4Department of Neurological Science, IRCCS “Istituto Neurologico C. Mondino” Foundation, University of Pavia, Pavia, IT","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47239160","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}
G. Revuelta, Corinne McGill, J. Jensen, L. Bonilha
Background Neuromodulation of the cerebello-thalamo-cortical (CTC) circuit via thalamic stimulation is an effective therapy for essential tremor (ET). In order to develop non-invasive neuromodulation approaches, clinically relevant thalamo-cortical connections must be elucidated. Methods Twenty-eight subjects (18 ET patients and 10 controls) underwent MRI diffusional kurtosis imaging (DKI). A deterministic fiber-tracking algorithm based on DKI was used, with a seeding region placed at the ventral intermediate nucleus (Vim—located based on intraoperative physiology) to the ending regions at the supplementary motor area (SMA), pre-SMA, or primary motor cortex. One-tailed t-tests were performed to compare groups, and associations with tremor severity were determined by Pearson correlations. All p-values were adjusted for multiple comparisons using Bonferroni correction. Results There was a decrease in the mean diffusivity (MD) in patients compared to controls in all three tracts: Vim-M1 (ET 0.87, control 0.96, p < 0.01), Vim-SMA (ET 0.86, control 0.96, p < 0.05), and Vim-pre-SMA (ET 0.87, control 0.95, p < 0.05). There was a significant positive correlation between Tremor Rating Scale score and MK (r = 0.471, p = 0.033) and mean FA (r = 0.438, p = 0.045) for the Vim-SMA tract, and no significant correlation for the Vim-pre-SMA or Vim-M1 tracts was found. Discussion Patients with ET demonstrated a reinforcement of Vim-cortical connectivity, with higher Vim-SMA connectivity being associated with greater tremor severity. This finding suggests that the Vim-SMA connection is relevant to the underlying pathophysiology of ET, and inhibition of the SMA may be an effective therapeutic approach.
{"title":"Characterizing Thalamo-Cortical Structural Connectivity in Essential Tremor with Diffusional Kurtosis Imaging Tractography","authors":"G. Revuelta, Corinne McGill, J. Jensen, L. Bonilha","doi":"10.7916/tohm.v0.690","DOIUrl":"https://doi.org/10.7916/tohm.v0.690","url":null,"abstract":"Background Neuromodulation of the cerebello-thalamo-cortical (CTC) circuit via thalamic stimulation is an effective therapy for essential tremor (ET). In order to develop non-invasive neuromodulation approaches, clinically relevant thalamo-cortical connections must be elucidated. Methods Twenty-eight subjects (18 ET patients and 10 controls) underwent MRI diffusional kurtosis imaging (DKI). A deterministic fiber-tracking algorithm based on DKI was used, with a seeding region placed at the ventral intermediate nucleus (Vim—located based on intraoperative physiology) to the ending regions at the supplementary motor area (SMA), pre-SMA, or primary motor cortex. One-tailed t-tests were performed to compare groups, and associations with tremor severity were determined by Pearson correlations. All p-values were adjusted for multiple comparisons using Bonferroni correction. Results There was a decrease in the mean diffusivity (MD) in patients compared to controls in all three tracts: Vim-M1 (ET 0.87, control 0.96, p < 0.01), Vim-SMA (ET 0.86, control 0.96, p < 0.05), and Vim-pre-SMA (ET 0.87, control 0.95, p < 0.05). There was a significant positive correlation between Tremor Rating Scale score and MK (r = 0.471, p = 0.033) and mean FA (r = 0.438, p = 0.045) for the Vim-SMA tract, and no significant correlation for the Vim-pre-SMA or Vim-M1 tracts was found. Discussion Patients with ET demonstrated a reinforcement of Vim-cortical connectivity, with higher Vim-SMA connectivity being associated with greater tremor severity. This finding suggests that the Vim-SMA connection is relevant to the underlying pathophysiology of ET, and inhibition of the SMA may be an effective therapeutic approach.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47348043","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}
Dystonias are a clinically and etiologically diverse group of disorders. Numerous genes have now been associated with different dystonia syndromes, and multiple strategies have been proposed for how these genes should be lumped and split into meaningful categories. The traditional approach has been based on the Human Genome Organization’s plan for naming genetic loci for all disorders. For dystonia this involves a DYT prefix followed by a number (e.g., DYT1, DYT2, DYT3, etc.). A more recently proposed approach involves assigning multiple prefixes according to the main elements of the phenotype (e.g., DYT, PARK, CHOR, TREM, etc.) followed by the name of the responsible gene. This article describes these nomenclature systems and summarizes some of their limitations. We focus on dystonia as an example, although the concepts may be applied to all movement disorders.
{"title":"Naming Genes for Dystonia: DYT-z or Ditzy?","authors":"N. Mencacci, H. A. Jinnah","doi":"10.7916/tohm.v0.710","DOIUrl":"https://doi.org/10.7916/tohm.v0.710","url":null,"abstract":"Dystonias are a clinically and etiologically diverse group of disorders. Numerous genes have now been associated with different dystonia syndromes, and multiple strategies have been proposed for how these genes should be lumped and split into meaningful categories. The traditional approach has been based on the Human Genome Organization’s plan for naming genetic loci for all disorders. For dystonia this involves a DYT prefix followed by a number (e.g., DYT1, DYT2, DYT3, etc.). A more recently proposed approach involves assigning multiple prefixes according to the main elements of the phenotype (e.g., DYT, PARK, CHOR, TREM, etc.) followed by the name of the responsible gene. This article describes these nomenclature systems and summarizes some of their limitations. We focus on dystonia as an example, although the concepts may be applied to all movement disorders.","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2019-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42784871","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}
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