Motor tics, stereotypies, and self-flagellation in primrose syndrome.
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ABSTRACT:
SUBMITTER: Dalal P
PROVIDER: S-EPMC3463006 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Publications
Motor tics, stereotypies, and self-flagellation in primrose syndrome.
Dalal P P Leslie N D ND Lindor N M NM Gilbert D L DL Espay A J AJ
Neurology 20100701 3
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Project description:Motor tics are sudden, brief, repetitive movements that constitute the main symptom of Tourette syndrome (TS). Multiple lines of evidence suggest the involvement of the cortico-basal ganglia system, and in particular the basal ganglia input structure-the striatum in tic formation. The striatum receives somatotopically organized cortical projections and contains an internal GABAergic network of interneurons and projection neurons' collaterals. Disruption of local striatal GABAergic connectivity has been associated with TS and was found to induce abnormal movements in model animals. We have previously described the behavioral and neurophysiological characteristics of motor tics induced in monkeys by local striatal microinjections of the GABAA antagonist bicuculline. In the current study we explored the abnormal movements induced by a similar manipulation in freely moving rats. We targeted microinjections to different parts of the dorsal striatum, and examined the effects of this manipulation on the induced tic properties, such as latency, duration, and somatic localization. Tics induced by striatal disinhibition in monkeys and rats shared multiple properties: tics began within several minutes after microinjection, were expressed solely in the contralateral side, and waxed and waned around a mean inter-tic interval of 1-4 s. A clear somatotopic organization was observed only in rats, where injections to the anterior or posterior striatum led to tics in the forelimb or hindlimb areas, respectively. These results suggest that striatal disinhibition in the rat may be used to model motor tics such as observed in TS. Establishing this reliable and accessible animal model could facilitate the study of the neural mechanisms underlying motor tics, and the testing of potential therapies for tic disorders.
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Project description:Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism, and other features such as sensorineural hearing loss, short stature, and calcification of the ear cartilage. It is caused by heterozygous variants in ZBTB20, a member of the POK family of transcription repressors. Recently, this gene was shown to have a role in skeletal development through its action on chondrocyte differentiation by repression of SOX9. We describe five unrelated patients with Primrose syndrome and distinct skeletal features including multiple Wormian bones, platybasia, bitemporal bossing, bathrocephaly, slender bones, epiphyseal and spondylar dysplasia. The radiological abnormalities of the skull and the epiphyseal dysplasia were the most consistent findings. This novel constellation of skeletal features expands the phenotypic spectrum of the disorder.
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Project description:BackgroundChronic tic disorders are characterized by motor tics that are often preceded by premonitory urges to tic. Functional neuroimaging studies have documented brain activity patterns prior to and during tics, but these studies have not examined whether the activation patterns differ from those seen in normal control subjects performing similar acts.MethodsA novel method was used to compare brain patterns during tics and intentional movements. First, the part of motor cortex specific to each patient's tic movement was identified. The brain areas activating prior to, during, and after that part of motor cortex during tics were then identified by temporally cross-correlating the time course of the localized motor region with activity in other brain areas. Given that motor cortex was active during tic execution, this yielded information regarding the brain areas active prior to, during, and after the movements. The spatiotemporal pattern of coactivation with motor cortex during tics was contrasted with that seen in healthy control subjects during intentional tic-like movements.ResultsData from 16 adult subjects with tic disorders and 16 matched control subjects, who performed intentional movements similar to the patients' tics, revealed nearly identical patterns of cross-correlation to motor cortex throughout the brain in the two groups. However, the supplementary motor area showed a significantly broader profile of cross-correlation to motor cortex during tics than during intentional movements.ConclusionsThese findings highlight the importance of the supplementary motor area in tic generation and may point toward novel intervention strategies for individuals suffering with severe tics.
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Project description:INTRODUCTION:Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. METHODS:We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as "central" or "peripheral," "simple" or "complex," scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. RESULTS:In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. CONCLUSION:Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS.
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