Biomedical subjects

Stefanie Klaffke

Publications and source records attributed to Stefanie Klaffke.

3 recordsLinked to original sources

PubMed2006

Brain-derived neurotrophic factor: a genetic risk factor for obsessive-compulsive disorder and Tourette syndrome?

A strong association of the G196A polymorphism of the brain-derived neurotrophic factor (BDNF) gene with obsessive-compulsive disorder (OCD) has been reported. Patients with Gilles de la Tourette's syndrome (GTS) often develop OCD as well, suggesting a shared genetic susceptibility for OCD and GTS. We investigated whether BNDF is associated not only with OCD but also with GTS. The G196A polymorphism of the BNDF gene was genotyped in 88 GTS trios. The extended transmission/disequilibrium test was applied. The transmission rates for both alleles did not differ from the expected transmission rates. This finding suggests that GTS and OCD may have distinct genetic risk factors.

Adolescent↗

PubMed2006

Dopamine transporters, D2 receptors, and glucose metabolism in corticobasal degeneration.

Alterations in presynaptic and postsynaptic dopaminergic system and cerebral glucose metabolism in corticobasal degeneration (CBD) were assessed to evaluate the potential usefulness of different imaging methods for CBD. (123)I-FP-CIT/(123)I-beta-CIT SPECT and (123)I-IBZM SPECT as well as (18)F-FDG PET were performed in eight CBD patients. Decreased presynaptic dopamine transporter binding was found in all CBD patients while D2 receptor binding was reduced in only one patient. (18)F-FDG PET displayed a contralateral hypometabolism in cortical and subcortical areas in seven out of eight patients. Our results demonstrate that glucose metabolism and DAT are reduced, while D2 receptors may be frequently preserved in CBD.

Aged↗

PubMed2003

Deep brain stimulation in dystonia.

Renewed interest in stereotaxy for dystonia followed the introduction of deep brain stimulation (DBS) in Parkinson's disease and essential tremor in the 1990s. DBS evolved from ablative surgery, which was applied with varying results in the 1950s in patients with movement disorders such as Parkinson's disease, essential tremor and dystonia. The present review summarizes the current knowledge on clinical aspects of DBS in dystonia (Dec. 2002). Excellent results have been achieved in dystonic patients carrying a mutation in the DYT1 gene with improvements up to 90 %. Similar results may also be obtained in patients with idiopathic generalized dystonia, myoclonus-dystonia syndrome, and tardive dystonia. Substantial improvement has been observed in patients with focal dystonia (for instance cervical dystonia). Patients with secondary dystonia often display a lesser and more variable degree of improvement. Long-term studies are warranted to assess both motor and neuropsychological sequelae of DBS in dystonia. Furthermore, the optimal target for different dystonic disorders remains to be determined, although the globus pallidus internus has currently emerged as the most promising target for dystonia.

Dystonia↗