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Genotype–phenotype interactions in primary dystonias revealed by differential changes in brain structure

B. Draganski, S.A. Schneider, M. Fiorio, S. Klöppel, M. Gambarin, M. Tinazzi, J. Ashburner, K.P. Bhatia, R.S.J. Frackowiak
2009 NeuroImage  
By crossing the factors genotype and phenotype we demonstrate a significant interaction in terms of brain anatomy confined to the basal ganglia bilaterally.  ...  We propose that differential pathophysiological and compensatory mechanisms lead to brain structure changes in non-DYT1 primary adult-onset dystonias and DYT1 gene carriers.  ...  Acknowledgments This work was supported by the Wellcome Trust (Ref: 075696/Z/ 04/Z to R.S.J.F and J.A.) and the Brain Research Trust (S.A.S).  ... 
doi:10.1016/j.neuroimage.2009.03.057 pmid:19344776 pmcid:PMC2741581 fatcat:k7lb32sx5nf3bfumf2bthg23oe

Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia

M. Carbon, M. Niethammer, S. Peng, D. Raymond, V. Dhawan, T. Chaly, Y. Ma, S. Bressman, D. Eidelberg
2009 Neurology  
Objective: To determine whether changes in D 2 receptor availability are present in carriers of genetic mutations for primary dystonia.  ...  Values from mutation carriers and healthy controls were compared using analysis of variance to assess the effects of genotype and phenotype.  ...  Accepted in final form March 13, 2009.  ... 
doi:10.1212/wnl.0b013e3181aa538f pmid:19528516 pmcid:PMC2697963 fatcat:6bei4jzawbh77avtt45gdvffuy

Primary Dystonia: Conceptualizing the Disorder Through a Structural Brain Imaging Lens

Ritesh A. Ramdhani, Kristina Simonyan
2013 Tremor and Other Hyperkinetic Movements  
Objective: We review the use of high-resolution structural brain imaging using voxel-based morphometry (VBM) and diffusion tensor imaging (DTI) techniques for evaluating brain changes in primary torsion  ...  However, despite the discrepancies, these studies are consistent in revealing brain abnormalities in dystonia that extend beyond the basal ganglia and involve the sensorimotor cortex and cerebellum.  ...  Third, genotype (e.g., DYT1) and phenotype interactions may differentially impact brain network organization in dystonia, resulting in different manifestations of the disorder.  ... 
doi:10.5334/tohm.164 fatcat:zk6hf57jd5a4zfaxcngcig6ese

Primary dystonia: conceptualizing the disorder through a structural brain imaging lens

Ritesh A Ramdhani, Kristina Simonyan
2013 Tremor and Other Hyperkinetic Movements  
We review the use of high-resolution structural brain imaging using voxel-based morphometry (VBM) and diffusion tensor imaging (DTI) techniques for evaluating brain changes in primary torsion dystonia  ...  However, despite the discrepancies, these studies are consistent in revealing brain abnormalities in dystonia that extend beyond the basal ganglia and involve the sensorimotor cortex and cerebellum.  ...  Third, genotype (e.g., DYT1) and phenotype interactions may differentially impact brain network organization in dystonia, resulting in different manifestations of the disorder.  ... 
doi:10.7916/d8h70dj7 pmid:23610744 pmcid:PMC3629863 fatcat:jdn7ykchazfi7lsyym7sx7bdnu

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

Zuchra Zakirova, Tomas Fanutza, Justine Bonet, Ben Readhead, Weijia Zhang, Zhengzi Yi, Genevieve Beauvais, Thomas P. Zwaka, Laurie J. Ozelius, Robert D. Blitzer, Pedro Gonzalez-Alegre, Michelle E. Ehrlich (+1 others)
2018 PLoS Genetics  
Dystonia is characterized by involuntary muscle contractions.  ...  a genotype and tissue-dependent manner.  ...  These extracellular recordings reveal plasticity phenotypes that must be expressed by a substantial fraction of MSNs.  ... 
doi:10.1371/journal.pgen.1007169 pmid:29364887 pmcid:PMC5798844 fatcat:3pkffrfvibcm3hes46qsz2vgj4

Dystonia Pathophysiology: A Critical Review [chapter]

Pierre Burbaud
2012 Dystonia - The Many Facets  
A problem in the genotypic rodent models is that they do not induce a phenotypic of dystonia.  ...  So far, the only phenotypic model of primary dystonia in the primate was that obtained in monkeys trained to perform repetitive movements (60) (61) (62) .  ... 
doi:10.5772/30295 fatcat:roelti3tf5fafggmxzefno4hje

PET Neuroimaging: Insights on Dystonia and Tourette Syndrome and Potential Applications

Pierpaolo Alongi, Leonardo Iaccarino, Daniela Perani
2014 Frontiers in Neurology  
Primary dystonia (pD) is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.  ...  within the cortico-striato-pallido-thalamo-cortical and cerebello-thalamo-cortical networks, revealing possible involvement of brain circuits not limited to basal ganglia in pD and GTS.  ...  It is of note that a recent study revealed unaltered D 1 receptor binding (by means of 11 C-NNC112 PET) in primary focal dystonias when compared with HCs (40) .  ... 
doi:10.3389/fneur.2014.00183 pmid:25295029 pmcid:PMC4171987 fatcat:rbbueewfpbatdncy54dfjestd4

Challenges in clinicogenetic correlations: One phenotype ‐ many genes

Rahul Gannamani, Sterre Veen, Martje Egmond, Tom J. Koning, Marina A.J. Tijssen
2021 Movement Disorders Clinical Practice  
In the field of movement disorders, what you see (phenotype) is seldom what you get (genotype).  ...  Future directions, including post-NGS phenotyping and cohort analyses enriched by genotype-phenotype integration and gene networks, ought to be pursued to accelerate identification of disease-causing genes  ...  Arq Neuropsiquiatr 2016 9 Primary familial brain calcification 4 genes Quintáns B, Oliveira J, Sobrido MJ. Primary familial brain calcifications.  ... 
doi:10.1002/mdc3.13163 pmid:33816658 pmcid:PMC8015914 fatcat:xasn4hxpsffghfifqoafih3pje

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

Chun-Chi Liang, Lauren M. Tanabe, Stephanie Jou, Frank Chi, William T. Dauer
2014 Journal of Clinical Investigation  
The classical familial form of primary dystonia is caused by the DYT1 (ΔE) mutation in TOR1A, which encodes torsinA, AAA + ATPase resident in the lumen of the endoplasmic reticular/nuclear envelope.  ...  These animals developed perinuclear accumulation of ubiquitin and the E3 ubiquitin ligase HRD1 in discrete sensorimotor regions, followed by neurodegeneration that was substantially milder in nestin-Cre  ...  This research project was supported in part by Bachmann-Strauss Dystonia and Parkinson Disease Foundation, a Fellowship from the Dystonia Medical Research Foundation (to L.M. Tanabe), the Robert P.  ... 
doi:10.1172/jci72830 pmid:24937429 pmcid:PMC4071385 fatcat:m3cz6cl4h5az3ezlkqepiy7d7e

Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias

Catharina Casper, Eirini Kalliolia, Thomas T. Warner
2013 Current Neuropharmacology  
In recent years there has been renewed interest in non-primary forms of dystonia including the dystonia-plus syndromes and heredodegenerative disorders.  ...  This includes monogenic forms such as DYT1and DYT6 dystonia, and primary focal dystonia which is likely to be multifactorial in origin.  ...  These findings suggest that multiple brain regions are involved in bringing about the disease phenotype and, in keeping with studies in primary dystonia, implicate the cerebellum as an important structure  ... 
doi:10.2174/157015913804999432 pmid:23814535 pmcid:PMC3580789 fatcat:k4m6xfmrabh43ldl6sau44icwe

Recent Advances in the Molecular Pathogenesis of Dystonia-Plus Syndromes and Heredodegenerative Dystonias

Catharina Casper, Eirini Kalliolia, Thomas T. Warner
2013 Current Neuropharmacology  
In recent years there has been renewed interest in non-primary forms of dystonia including the dystonia-plus syndromes and heredodegenerative disorders.  ...  This includes monogenic forms such as DYT1and DYT6 dystonia, and primary focal dystonia which is likely to be multifactorial in origin.  ...  These findings suggest that multiple brain regions are involved in bringing about the disease phenotype and, in keeping with studies in primary dystonia, implicate the cerebellum as an important structure  ... 
doi:10.2174/1570159x11311010005 pmid:23814535 pmcid:PMC3580789 fatcat:okmhzvr66zc7hajsnipahtjfci

Imaging brain tissue properties in movement disorders

2013 Swiss Archives of Neurology and Psychiatry  
Minireview Summary Recent advances in computational neuroanatomy provide useful tools for i n-vivo assessment of brain structure in movement disorders, allowing for a ccurate classification in early clinical  ...  The second modality, diffusion tensor imaging (DTI), describes the restricted brain t issue water properties in two ways: by the predominant d iffusion direction or by the degree of mean diffusivity.  ...  In line with our increased knowledge about the genetic basis of primary dystonia an increased number of neuroimaging studies look for genotype/phenotype interactions related to brain structure.  ... 
doi:10.4414/sanp.2013.00102 fatcat:arqmfid57ve4nbc2pajdqa43pm

Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia

Vikram G. Shakkottai, Amit Batla, Kailash Bhatia, William T Dauer, Christian Dresel, Martin Niethammer, David Eidelberg, Robert S. Raike, Yoland Smith, H. A. Jinnah, Ellen J. Hess, Sabine Meunier (+9 others)
2016 Cerebellum  
The following topics are discussed:  The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia.  Data about brain structure, cerebellar metabolism,  ...  structures that could support a role for the cerebellum in dystonia.  ...  Structural changes within the brain are present at various levels of the sensorimotor network.  ... 
doi:10.1007/s12311-016-0825-6 pmid:27734238 pmcid:PMC5336511 fatcat:ejky6yfwwngnxp6rfd6d3xb5xa

The monogenic primary dystonias

U. Muller
2009 Brain  
In pure dystonias, dystonia is occasionally accompanied by tremor.  ...  While gross neuropathological changes are absent in most primary dystonias, including the paroxysmal forms, striking morphological alterations are found in some, such as in the X-linked dystonia-parkinsonism  ...  1 revealed increased metabolic activity in mid-brain, cerebellum and thalamus.  ... 
doi:10.1093/brain/awp172 pmid:19578124 fatcat:eiynkzm54nal3jirvxrd4aqgs4

Genomics of speech and language disorders

Joaquin Guerra, Ramon Cacabelos
2019 Journal of Translational Genetics and Genomics  
disorders or phenotypes unrelated to communication.  ...  Besides, most of speech and language disorders are implicated in neurodevelopment with molecular mechanisms and pathways that interact with each other, and there may be co-morbidity with other communication  ...  The phenotype of SCAs varies and can affect only the cerebellum or other brain structures.  ... 
doi:10.20517/jtgg.2018.03 fatcat:u7wsif4ofzaxjorikcvajl4vfy
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