Genomes and Genes
Summary: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.
- Groen J, Kallen M, van de Warrenburg B, Speelman J, Van Hilten J, Aramideh M, et al. Phenotypes and genetic architecture of focal primary torsion dystonia. J Neurol Neurosurg Psychiatry. 2012;83:1006-11 pubmed publisher..We suggest that genetic research into FPTDs will benefit from this approach and discuss genetic research strategies to decipher the complex background of focal dystonias. ..
- Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev. 2011;33:195-201 pubmed publisher..The TH deficiency at the terminal does not cause morphological changes or degenerative process. Thus, levodopa shows favorable effects without any relation to the duration of illness. ..
- Fabbrini G, Berardelli I, Moretti G, Pasquini M, Bloise M, Colosimo C, et al. Psychiatric disorders in adult-onset focal dystonia: a case-control study. Mov Disord. 2010;25:459-65 pubmed publisher..The most common psychiatric features in patients with CD and BPS are depressive disorders. ..
- Delnooz C, Helmich R, Medendorp W, van de Warrenburg B, Toni I. Writer's cramp: increased dorsal premotor activity during intended writing. Hum Brain Mapp. 2013;34:613-25 pubmed publisher..These findings open the way for testing the therapeutic value of interventions that take into account the computational substrate of task-specificity in simple WC, e.g. modulations of PMd activity during the planning phase of writing. ..
- Havrankova P, Walker N, Operto G, Sieger T, Vymazal J, Jech R. Cortical pattern of complex but not simple movements is affected in writer's cramp: a parametric event-related fMRI study. Clin Neurophysiol. 2012;123:755-63 pubmed publisher..This phenomenon was not observed in simple movements and was unrelated to the character of handwriting or to visual feedback. Our results support the dualistic behavior in the sensorimotor system in WC. ..
- Huang Y, Rothwell J, Lu C, Wang J, Chen R. Restoration of motor inhibition through an abnormal premotor-motor connection in dystonia. Mov Disord. 2010;25:696-703 pubmed publisher..The possible therapeutic effects of premotor rTMS may therefore involve indirect effects of PMd on SICI and RI, which this study has shown can be normalised by cTBS. ..
- Bøttger P, Tracz Z, Heuck A, Nissen P, Romero Ramos M, Lykke Hartmann K. Distribution of Na/K-ATPase alpha 3 isoform, a sodium-potassium P-type pump associated with rapid-onset of dystonia parkinsonism (RDP) in the adult mouse brain. J Comp Neurol. 2011;519:376-404 pubmed publisher..In conclusion, and based on our data, ATP1?(3) is widely expressed in neuronal populations but mainly in GABAergic neurons in areas and nuclei related to movement control, in agreement with RDP symptoms. ..
- Dresel C, Bayer F, Castrop F, Rimpau C, Zimmer C, Haslinger B. Botulinum toxin modulates basal ganglia but not deficient somatosensory activation in orofacial dystonia. Mov Disord. 2011;26:1496-502 pubmed publisher..Modulation of basal ganglia activation might reflect an indirect remote effect of BTX treatment on these sensorimotor circuits. ..
- Lungu C, Karp B, Alter K, Zolbrod R, Hallett M. Long-term follow-up of botulinum toxin therapy for focal hand dystonia: outcome at 10 years or more. Mov Disord. 2011;26:750-3 pubmed publisher..No serious side-effects or antibody-mediated resistance occurred. This is the longest reported period of BoNT treatment in the largest FHD cohort. BoNT therapy for FHD remains safe and effective after more than a decade of treatment. ..
- Jin S, Lin P, Auh S, Hallett M. Abnormal functional connectivity in focal hand dystonia: mutual information analysis in EEG. Mov Disord. 2011;26:1274-81 pubmed publisher..The abnormal beta-band functional connectivity in focal hand dystonia patients suggests deficient brain connectivity. ..
- Lee J, Ki C, Kim D, Cho J, Park K, Kim S. Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. J Korean Med Sci. 2011;26:1244-6 pubmed publisher..1A>T; p.Met1Leu) in GTP cyclohydrolase 1 (GCH1) gene. Although it is known that DRD can be misdiagnosed as cerebral palsy, this case reinforces the importance of differential diagnosis of DRD from cerebral palsy. ..
- Neychev V, Gross R, Lehericy S, Hess E, Jinnah H. The functional neuroanatomy of dystonia. Neurobiol Dis. 2011;42:185-201 pubmed publisher..This article is part of a Special Issue entitled "Advances in dystonia"...
- Yokoi F, Dang M, Zhou T, Li Y. Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models. Hum Mol Genet. 2012;21:916-25 pubmed publisher..Development of therapies targeting the striatum to compensate for the loss of ?-sarcoglycan function may rescue the motor deficits in DYT11 M-D patients. ..
- Gavarini S, Cayrol C, Fuchs T, Lyons N, Ehrlich M, Girard J, et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol. 2010;68:549-53 pubmed publisher..Our findings provide the first evidence that causative genes for primary dystonia intersect in a common pathway and raise the possibility of developing novel therapies targeting this pathway. ..
- Ledoux M, Xiao J, Rudzinska M, Bastian R, Wszolek Z, Van Gerpen J, et al. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012;18:414-25 pubmed publisher..Protein truncating mutations and missense mutations within the THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1. ..
- Bradley D, Whelan R, Kimmich O, O Riordan S, Mulrooney N, Brady P, et al. Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype. J Neurol. 2012;259:77-82 pubmed publisher..Temporal discrimination threshold results were comparable across common adult-onset primary torsion dystonia phenotypes, with lower sensitivity in the musicians...
- Quartarone A, Pisani A. Abnormal plasticity in dystonia: Disruption of synaptic homeostasis. Neurobiol Dis. 2011;42:162-70 pubmed publisher..This article is part of a Special Issue entitled "Advances in dystonia"...
- Colosimo C, Tiple D, Berardelli A. Efficacy and safety of long-term botulinum toxin treatment in craniocervical dystonia: a systematic review. Neurotox Res. 2012;22:265-73 pubmed..Longitudinal studies aimed at defining the risk factors for this abnormal pattern of response to botulinum toxin treatment are currently being conducted. ..
- Quartarone A, Classen J, Morgante F, Rosenkranz K, Hallett M. Consensus paper: use of transcranial magnetic stimulation to probe motor cortex plasticity in dystonia and levodopa-induced dyskinesia. Brain Stimul. 2009;2:108-17 pubmed publisher..The recognition that this can occur, together with a speculative mechanism, generates an important and provocative hypothesis for future research at the clinical-scientific interface. ..
- Mohammadi B, Kollewe K, Samii A, Beckmann C, Dengler R, Münte T. Changes in resting-state brain networks in writer's cramp. Hum Brain Mapp. 2012;33:840-8 pubmed publisher..In line with other studies, the results show a dysfunction in cortico-subcortical circuits in WC involving somatosensory cortex, areas interfacing the sensory and motor systems, and putamen contralateral to symptomatic hand. ..
- Schneider S, Bhatia K. Rare causes of dystonia parkinsonism. Curr Neurol Neurosci Rep. 2010;10:431-9 pubmed publisher..The aim of this review is to familiarize the clinician with the phenotypes of these disorders. ..
- Castrop F, Dresel C, Hennenlotter A, Zimmer C, Haslinger B. Basal ganglia-premotor dysfunction during movement imagination in writer's cramp. Mov Disord. 2012;27:1432-9 pubmed publisher..This finding seems to be an intrinsic deficit, as it is found during motor imagery in the absence of dystonic symptoms. ..
- Kojovic M, Caronni A, Bologna M, Rothwell J, Bhatia K, Edwards M. Botulinum toxin injections reduce associative plasticity in patients with primary dystonia. Mov Disord. 2011;26:1282-9 pubmed publisher..We propose that subsequent reorganization of the motor cortex representation of hand muscles may explain the effect of botulinum toxin on motor cortical plasticity. © 2011 Movement Disorder Society. ..
- Calderon D, Fremont R, Kraenzlin F, Khodakhah K. The neural substrates of rapid-onset Dystonia-Parkinsonism. Nat Neurosci. 2011;14:357-65 pubmed publisher..Our results provide a unifying hypothesis for the involvement of cerebellum and basal ganglia in the generation of dystonia and suggest therapeutic strategies for the treatment of RDP. ..
- Hallett M. Neurophysiology of dystonia: The role of inhibition. Neurobiol Dis. 2011;42:177-84 pubmed publisher..This article is part of a Special Issue entitled "Advances in dystonia". ..
- Nelson A, Blake D, Chen R. Digit-specific aberrations in the primary somatosensory cortex in Writer's cramp. Ann Neurol. 2009;66:146-54 pubmed publisher..Therapeutic regimes aimed at facilitating inter-digit separation of digits 1, 2 and 3 may promote beneficial plasticity in WC patients. ..
- Islam T, Kupsch A, Bruhn H, Scheurig C, Schmidt S, Hoffmann K. Decreased bilateral cortical representation patterns in writer's cramp: a functional magnetic resonance imaging study at 3.0 T. Neurol Sci. 2009;30:219-26 pubmed publisher..The findings suggest decreased baseline activity or an impaired activation in response to motor tasks in BA 1-4, 6, 40 in patients with writer's cramp for the dystonic and the clinically unaffected hand. ..
- Delnooz C, Horstink M, Tijssen M, van de Warrenburg B. Paramedical treatment in primary dystonia: a systematic review. Mov Disord. 2009;24:2187-98 pubmed publisher..A design in which the paramedical intervention is added to a current gold standard, for example, BoNT-A injections in cervical dystonia, is recommended. ..
- Kang J, Kang S, Kang H, Koh Y, Im J, Lee M. A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia. Brain Dev. 2004;26:287-91 pubmed..We documented normal striatal uptake of [123I]IPT, a dopamine transporter ligand with fast washout kinetics, in our patients by using SPECT. This method can be helpful in diagnosing HPD/DRD in uncertain cases. ..
- Hallett M. Psychogenic movement disorders: a crisis for neurology. Curr Neurol Neurosci Rep. 2006;6:269-71 pubmed
- Jamora R, Tan E, Liu C, Kathirvel P, Burgunder J, Tan L. DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West. J Neurol Sci. 2006;247:35-7 pubmed..The frequency of DYT1 mutation amongst Asians (1.0%) was comparable to the West (1.56%) (p=NS). DYT1 mutations are uncommon amongst adult primary dystonia patients in Singapore. ..
- Tamura Y, Ueki Y, Lin P, Vorbach S, Mima T, Kakigi R, et al. Disordered plasticity in the primary somatosensory cortex in focal hand dystonia. Brain. 2009;132:749-55 pubmed publisher..In addition, intracortical inhibition in S1 was found to increase as well. This abnormal plasticity of the intracortical neurons in S1 may contribute to the pathophysiology of dystonia. ..
- Maniak S, Sieberer M, Hagenah J, Klein C, Vieregge P. Focal and segmental primary dystonia in north-western Germany--a clinico-genetic study. Acta Neurol Scand. 2003;107:228-32 pubmed..In accordance with previous series our study provides evidence that primary focal dystonia may have a genetic etiology, most probably caused by an autosomal dominant trait with reduced penetrance. ..
- Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak C, et al. Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet. 2006;43:394-400 pubmed..This large cohort of index patients shows that SGCE mutations are primarily found in patients with M-D and to a lesser extent E-M, but are present in only 30% of these patients combined (M-D and E-M). ..
- Kristeva R, Chakarov V, Losch F, Hummel S, Popa T, Schulte Mönting J. Electroencephalographic spectral power in writer's cramp patients: evidence for motor cortex malfunctioning during the cramp. Neuroimage. 2005;27:706-14 pubmed
- Le Ber I, Clot F, Vercueil L, Camuzat A, Viemont M, Benamar N, et al. Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology. 2006;67:1769-73 pubmed..However, X-linked inheritance is possible since only men were affected. We have characterized an unusual familial phenotype associating dystonia and cerebellar atrophy in 12 male patients. ..
- Hague S, Klaffke S, Clarimon J, Hemmer B, Singleton A, Kupsch A, et al. Lack of association with TorsinA haplotype in German patients with sporadic dystonia. Neurology. 2006;66:951-2 pubmed
- Opal P, Tintner R, Jankovic J, Leung J, Breakefield X, Friedman J, et al. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord. 2002;17:339-45 pubmed..We conclude that marked phenotypic heterogeneity characterizes some families with DYT1 dystonia, suggesting a role for genetic, environmental, or other modifiers. These findings have implications for genetic testing and counseling. ..
- Ichinose H, Nomura T, Sumi Ichinose C. Metabolism of tetrahydrobiopterin: its relevance in monoaminergic neurons and neurological disorders. Chem Rec. 2008;8:378-85 pubmed publisher..Our research suggests that BH4 metabolism in the brain should be different from that in the liver, and that altered metabolism of BH4 should lead to neuropsychiatric disorders including Parkinson's disease. ..
- Lim V, Bradshaw J, Nicholls M, Altenmüller E. Abnormal sensorimotor processing in pianists with focal dystonia. Adv Neurol. 2004;94:267-73 pubmed..This overexcitation of the cortex may be the result of a dysfunction in the globus pallidus, resulting in a lack of inhibition and/or an increase in excitation. ..
- Tanabe L, Kim C, Alagem N, Dauer W. Primary dystonia: molecules and mechanisms. Nat Rev Neurol. 2009;5:598-609 pubmed publisher..Other dystonia-related gene products traffic through the endoplasmic reticulum, suggesting a potential cell biological theme underlying primary dystonia. ..
- Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001;29:66-9 pubmed..Pedigree analysis shows a marked difference in penetrance depending on the parental origin of the disease allele. This is indicative of a maternal imprinting mechanism, which has been demonstrated in the mouse epsilon-sarcoglycan gene. ..
- Weise D, Schramm A, Stefan K, Wolters A, Reiners K, Naumann M, et al. The two sides of associative plasticity in writer's cramp. Brain. 2006;129:2709-21 pubmed..LTP-like as well as LTD-like plasticity is abnormal with respect to both gain and spatial organization. These findings may help to develop a pathophysiological model explaining core features of focal dystonia. ..
- Delmaire C, Vidailhet M, Elbaz A, Bourdain F, Bleton J, Sangla S, et al. Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp. Neurology. 2007;69:376-80 pubmed..These abnormalities may be related to the pathophysiology of writer's cramp, questioning the role of the cerebellum, or to maladaptive plasticity in a task-related dystonia. ..
- Kim Y, Choi Y, Lee J, Yang S, Cho J, Shin C, et al. Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele. Exp Mol Med. 2008;40:271-5 pubmed..The expression level of a R198W mutant allele decreased to about 50%, suggesting that modestly decreased expression caused by an SNP should lead to predisposition of a genetic disease in susceptible individuals. ..
- Carbon M, Ghilardi M, Argyelan M, Dhawan V, Bressman S, Eidelberg D. Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study. Brain. 2008;131:146-54 pubmed..The inability to recruit the appropriate set of neocortical areas because of altered fronto-striatal connectivity may have led to the shift to cerebellar processing. ..
- Defazio G, Abbruzzese G, Livrea P, Berardelli A. Epidemiology of primary dystonia. Lancet Neurol. 2004;3:673-8 pubmed
- Zirn B, Steinberger D, Troidl C, Brockmann K, von der Hagen M, Feiner C, et al. Frequency of GCH1 deletions in Dopa-responsive dystonia. J Neurol Neurosurg Psychiatry. 2008;79:183-6 pubmed..We conclude that GCH1 deletion analysis should be incorporated into the routine molecular diagnosis of all patients with DRD with a sustained response to L-Dopa. ..
- Rosenkranz K, Williamon A, Butler K, Cordivari C, Lees A, Rothwell J. Pathophysiological differences between musician's dystonia and writer's cramp. Brain. 2005;128:918-31 pubmed..The fact that sensory input had no effect on motor output in patients with WC suggests that sensory information from the hand may play a smaller role in provoking pathological changes in WC than in MD. ..
- Blood A, Flaherty A, Choi J, Hochberg F, Greve D, Bonmassar G, et al. Basal ganglia activity remains elevated after movement in focal hand dystonia. Ann Neurol. 2004;55:744-8 pubmed..We posit that inhibitory control of the basal ganglia may be faulty in focal hand dystonia, and that the increases we observe in "resting" activity may mask basal ganglia abnormalities in standard imaging contrast analyses. ..
- Brandfonbrener A, Robson C. Review of 113 musicians with focal dystonia seen between 1985 and 2002 at a clinic for performing artists. Adv Neurol. 2004;94:255-6 pubmed