The Functional Neuroanatomy of Tourette's Syndrome An FDG PET Study III: Functional Coupling of Regional Cerebral Metabolic Rates

Jeffries, KJ; Schooler, Carmi; Schoenbach, C; Herscovitch, Peter; Chase, T. N.; Braun, Andrew

doi:10.1016/s0893-133x(01)00428-6

Cited by 89 publications

(65 citation statements)

References 31 publications

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“…The genetic underpinnings of the disorders remain unclear, although multiple traits of evidence suggest involvement of dopaminergic neurotransmission and abnormalities involving cortical-striatalthalamic-cortical circuitry [Jeffries et al, 2002;Ercan-Sencick et al, 2010]. The large genetic contribution to TS is well established and a few genes were reported to be responsible for monogenic subtype of TS [Rivi ere et al, 2009;Dehning et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome

Lei

Deng

Zhang

et al. 2011

American J of Med Genetics Pt B

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Tourette Syndrome (TS) is a complex neuropsychiatric disorder characterized by vocal and motor tics. While environmental causes have been proposed to play a role, genetic factors are believed to be the main determinants of the disorder and its clinical manifestations. Recently, a heterozygous W317X mutation in the histidine decarboxylase gene (HDC) was reported to be responsible for TS in a two-generation pedigree. To investigate whether the HDC gene play a role in TS in Chinese Han population, we performed genetic analysis of the coding region of the HDC gene in 100 Chinese Han patients with TS. Three variants were found including a C > T transition (IVS1 + 52C > T), a novel C > A transition (c.426C > A) in exon 4, and a novel G > A transition (c.1743G > A) in exon 12, both predicted with no amino acid change. Extended analysis was conducted in a total of 120 TS patients and 240 sex, age, and ethnicity matched healthy controls. No significant differences in genotypic and allele distribution between patients and controls for these three variants (P = 0.274, P = 1.000 and P = 0.632 for genotypic distribution, respectively; P = 0.143, P = 1.000 and P = 0.582 for allele distribution, respectively) were observed, suggesting variants in the HDC gene may play little or no role in TS susceptibility in Chinese Han population.

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Section: Discussionmentioning

confidence: 99%

Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome

Lei

Deng

Zhang

et al. 2011

American J of Med Genetics Pt B

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“…Investigators have also examined how coupling between brain regions may be disturbed in TD. An fluorodeoxyglucose (FDG)-PET study reported differences in connectivity in TD patients and controls, particularly to the ventral striatum, as well as a reversal in coupling between the limbic and motor CSTC loops ( Jeffries et al 2002). That is, the motor and limbic circuits tended to be negatively correlated in healthy subjects and positively correlated in TD patients.…”

Section: Structural and Functional Neuroimaging Studiesmentioning

confidence: 99%

Neurobiological Substrates of Tourette's Disorder

Leckman

Bloch

Smith³

et al. 2010

Journal of Child and Adolescent Psychopharmacology

173

126

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Objective: This article reviews the available scientific literature concerning the neurobiological substrates of Tourette's disorder (TD). Methods: The electronic databases of PubMed, ScienceDirect, and PsycINFO were searched for relevant studies using relevant search terms. Results: Neuropathological as well as structural and functional neuroimaging studies of TD implicate not only the sensorimotor corticostriatal circuit, but also the limbic and associative circuits as well. Preliminary evidence also points to abnormalities in the frontoparietal network that is thought to maintain adaptive online control. Evidence supporting abnormalities in dopaminergic and noradrenergic neurotransmission remains strong, although the precise mechanisms remain the subject of speculation. Conclusion: Structural and functional abnormalities in multiple parallel corticostriatal circuits may underlie the behavioral manifestations of TD and related neuropsychiatric disorders over the course of development. Further longitudinal research is needed to elucidate these neurobiological substrates.

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“…For example, functional MRI studies have shown that during active tic suppression, the putamen, globus pallidus, and bilateral thalamus were activated [Peterson et al, 1998]. Several other neuroimaging studies have also shown involvement of both caudate and lentiform nuclei (striatum) in TS [Jeffries et al, 2002;Ludolph et al, 2006;Peterson et al, 2001Peterson et al, , 2003]. However, no study has convincingly demonstrated direct involvement of white matter pathways linking the striatum with cortical regions in this disorder.…”

Section: Neuroimaging Findingsmentioning

confidence: 99%

“…However, several studies have more specifically suggested involvement of dorsal cortical regions, and the caudate [Bohlhalter et al, 2006;Fahim et al, in press] while other studies have suggested involvement of ventral cortical surfaces and the putamen [Jeffries et al, 2002;Ludolph et al, 2006;Makki et al, 2008] or both [Peterson et al, 1998]. The corticostriatal projection fibers from dorsal cortical surfaces travel mostly through the medial SC white matter pathway.…”

Section: Neuroimaging Findingsmentioning

confidence: 99%

“…There is much evidence in the literature to implicate the involvement of a dysfunctional fronto-striato-thalamiccortical (FSTC) circuitry in this tic disorder [Harris and Singer, 2006]. Several imaging studies have also demonstrated a pivotal role of this circuitry in TS [Jeffries et al, 2002;Ludolph et al, 2006;Makki et al, 2008;Peterson et al, 1998], as well as abnormal volume in component gray matter regions of the FSTC circuitry [Peterson et al, 2001[Peterson et al, , 2003. However, translation of these findings to useful clinical treatment approaches has been slow and hindered by the lack of suitable noninvasive methodologies to study the disorder.…”

Section: Introductionmentioning

confidence: 99%

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Abnormal water diffusivity in corticostriatal projections in children with Tourette syndrome

Govindan¹,

Makki²,

Wilson³

et al. 2010

Human Brain Mapping

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The fronto-striato-thalamic circuit has been implicated in the pathomechanism of Tourette Syndrome (TS). To study white and gray matter comprehensively, we used a novel technique called Tract-Based Spatial Statistics (TBSS) combined with voxel-based analysis (VBA) of diffusion tensor MR images in children with TS as compared to typically developing controls. These automated and unbiased methods allow analysis of cerebral white matter and gray matter regions. We compared 15 right-handed children with TS (mean age: 11.6 ± 2.5 years, 12 males) to 14 age-matched right-handed healthy controls (NC; mean age: 12.29 ± 3.2 years, 6 males). Tic severity and neurobehavioral scores were correlated with FA and ADC values in regions found abnormal by these methods. For white matter, TBSS analysis showed regions of increased ADC in the corticostriatal projection pathways including left external capsule and left and right subcallosal fasciculus pathway in TS group compared to NC group. Within the TS group, ADC for the left external capsule was negatively associated with tic severity (r= -0.586, P = 0.02). For gray matter, VBA revealed increased ADC for bilateral orbitofrontal cortex, left putamen, and left insular cortex. ADC for the right and left orbitofrontal cortex was highly correlated with internalizing problems (r = 0.665; P = 0.009, r = 0.545; P = 0.04, respectively). Altogether, this analysis revealed focal diffusion abnormalities in the corticostriatal pathway and in gray matter structures involved in the fronto-striatal circuit in TS. These diffusion abnormalities could serve as a neuroimaging marker related to tic severity and neurobehavioral abnormalities in TS subjects.

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The Functional Neuroanatomy of Tourette's Syndrome An FDG PET Study III: Functional Coupling of Regional Cerebral Metabolic Rates

Cited by 89 publications

References 31 publications

Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome

Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome

Neurobiological Substrates of Tourette's Disorder

Abnormal water diffusivity in corticostriatal projections in children with Tourette syndrome

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