Altered motor network recruitment during finger tapping in boys with Tourette syndrome

In Tourette syndrome (TS), not only the tics but also the findings on deficits in motor performance indicate motor system alterations. But our knowledge about the pathophysiology of the motor system in TS is still limited. To better understand the neuronal correlates of motor performance in TS, 19 treatment‐naïve boys [age 12.5 (SD 1.4) years] with TS without comorbid symptomatology were compared to an age‐matched healthy control group [n = 16; age 12.9 (SD 1.6) years] in regard to brain activation during right‐hand index finger tapping by means of functional magnetic resonance imaging. Group differences were found mainly in the left (contralateral) precentral gyrus, which was less activated in boys suffering from TS and in caudate nucleus as well as in medial prefrontal cortex, which was more activated compared to healthy boys. These results show that even in the first years after the onset of the disorder, an altered brain network of motor performance is recruited. These alterations in brain regions frequently associated with TS are probably based on functional changes, which are discussed in terms of early compensatory mechanisms of the motor execution network. Hum Brain Mapp, 2012. © 2011 Wiley Periodicals, Inc.     

Are dopa-responsive dystonia and Parkinson’s disease related disorders? A case report

Objectivel-Dopa-responsive dystonia (DRD) is a hereditary dystonia characterized by an excellent response to low dosages of levodopa. DRD patients may also develop Parkinsonism which resembles idiopathic Parkinson’s disease. In classical DRD no changes in the dopaminergic uptake have been observed.MethodsA 65-year old woman presented with clinically remarkably slowly progressing Parkinson’s disease (PD) without any dystonic signs and excellent response to dopaminergic medications. We obtained a [¹²³I] FP-CIT-SPECT (DaTSCAN?) in order to elucidate a striatal dopaminergic deficit.ResultsWe found a reduced uptake in the [¹²³I] FP-CIT-SPECT (DaTSCAN?) contralateral to the more affected body side. Additionally, the patient showed a heterozygous deletion of the GHC1 gene.ConclusionsPatients with mild parkinsonian symptoms, excellent response to low dosages of dopaminergic drugs and a reduced dopamine-transporter uptake in [¹²³I] FP-CIT-SPECT might more commonly be GCH1 mutation carriers than has previously been supposed. PD patients with a positive family history of DRD and combination of these clinical symptoms should be offered genetic counselling and testing for GCH1.     

Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease

Quality of life (QoL) is decreased in PD and is linked with depression and anxiety. However, little is known about QoL in monogenic PD. Subjects with mutations in PD genes were recruited from ongoing family and genetic studies (manifesting carriers, n = 23; nonmanifesting carriers, n = 19). For comparison purposes, we included patients with idiopathic PD (IPD; n = 128; early onset, n = 38; late onset, n = 90), healthy controls (n = 127), and data on depressive symptoms of 144 patients with major depression (treated controls). Depression affected 31% of early-onset PD cases, 21% of late-onset cases, and 44% of manifesting carriers of mutations in PD genes, but was rare in the nonmanifesting carriers (7%) and healthy controls (5%). Subjects with Parkinson-associated depression reported fewer feelings of guilt or self-doubt than treated controls, but the occurrence of suicidal ideation was associated with severity of depression only. Social phobia (P = 0.018) and agoraphobia (P = 0.059) were more common in manifesting carriers than in any other group. QoL was decreased in the Parkinson groups, particularly in the early-onset cases (P < 0.001), and QoL correlated with depression in all analyses. In our study, monogenic and IPD cases were comparable in QoL and depression characteristics. The QoL and, possibly, overall prognosis of all PD patients can be improved by appropriate attention and treatment for depression, sleep impairments, and anxiety, even if the treatment of the motor problems cannot be further optimized.     

Decreased olfactory bulb volume in idiopathic Parkinson's disease detected by 3.0-Tesla magnetic resonance imaging

A number of neuropathological studies have demonstrated that the olfactory system is among the first brain regions affected in Parkinson's disease (PD). These findings correlate with pathophysiological and pathological data that show a loss in olfactory bulb (OB) volume in patients with PD. However, to date, MRI has not been a reliable method for the in vivo detection of this volumetric loss in PD. Using a 3.0-Tesla MRI constructive interference in the steady-state sequence, OB volume was evaluated in patients with PD (n = 16) and healthy control subjects (n = 16). A significant loss of OB volume was observed in patients with PD, compared to the healthy control group (91.2 ± 15.72 versus 131.4 ± 24.56 mm(3) , respectively). Specifically, decreased height of the left OB appears to be a reliable parameter that is adaptable to clinical practice and significantly correlates with OB volume loss in patients with idiopathic PD. Measuring both the volume and height of the OB by MRI may be a valuable method for the clinical investigation of PD.     

Nanodrug applications in photodynamic therapy

Photodynamic therapy (PDT) has developed over last century and is now becoming a more widely used medical tool having gained regulatory approval for the treatment of various diseases such as cancer and macular degeneration. It is a two-step technique in which the delivery of a photosensitizing drug is followed by the irradiation of light. Activated photosensitizers transfer energy to molecular oxygen which results in the generation of reactive oxygen species which in turn cause cells apoptosis or necrosis. Although this modality has significantly improved the quality of life and survival time for many cancer patients it still offers significant potential for further improvement. In addition to the development of new PDT drugs, the use of nanosized carriers for photosensitizers is a promising approach which might improve the efficiency of photodynamic activity and which can overcome many side effects associated with classic photodynamic therapy. This review aims at highlighting the different types of nanomedical approaches currently used in PDT and outlines future trends and limitations of nanodelivery of photosensitizers.     

Initial stability of tibial components in primary knee arthroplasty. A cadaver study comparing cemented and cementless fixation techniques

The purpose of this roentgen stereophotogrammetric analysis (RSA) study was to evaluate the initial stability of cemented and cementless tibial components in vitro. Twenty tibia specimens were matched into two groups. In the first group, the tibial trays were cemented superficially and in the second group cementless fixation with stem and screws was performed. An axial load of 2000 N for 1000 and 10,000 cycles was applied onto the specimens and RSA was performed. The experimental results after 1000 cycles showed a higher migration with significant differences for the parameters maximum lift off (p = 0.011) and maximum total point motion (p = 0.002) in the cementless group. After 10,000 cycles, the migration in the cementless group increased significantly for maximum lift off (p = 0.043), maximum subsidence (p = 0.045) and maximum total point motion (p = 0.013). The higher migration rates in the cementless group demonstrate a lower initial mechanical stability of cementless tibial components which can cause an early component loosening.