Recently, mutations in the pantothenate kinase 2 (PANK2) gene were identified as causative for up to 70% of all NBIA

cases. Hence, this subtype of NBIA was designated pantothenate kinase-associated neurodegeneration (PKAN) [30] and [31]. The first symptoms usually occur during childhood and patients initially present with walking difficulties. Later www.selleckchem.com/products/OSI-906.html the typical symptoms consisting of dysarthria, dystonia and visual problems occur [32]. To date, the diagnosis is obtained using MR imaging showing the pathognomonic hypointensity within the globus pallidus along with high signal intensity in the center of the globus pallidus internus also known as “eye-of-the-tiger-sign” (EOT-sign) on T2-weighted images [33]. The verification of the diagnosis is done by documentation of PANK2 mutation. As the clinical presentation of patients can be unspecific and the MR imaging implies sedation in children, we recently performed a study examining the diagnostic properties of TCS in the diagnosis of NBIA. In this DZNeP molecular weight small study, 7 patients were examined by transcranial ultrasound and the results were compared to age matched controls without any history of neurological disease [17]. Interestingly, we found a highly significant hyperechogenicity of the SN in NBIA patients. Surprisingly,

we were not able to detect valid changes within the basal ganglia, which in MRI usually display the pathognomonic EOT sign. As already discussed for Wilson’s disease, further

studies and more experience are needed to evaluate this shortcoming of TCS in the area of the basal ganglia. Due to the limited size of our study the findings need to be reproduced in a bigger cohort of patients. Nevertheless, it provides good evidence for the usefulness of TCS especially in children with suspected movement disorders prior to genetic testing or MR imaging. Since the initial finding by Becker and co-workers, that TCS is capable of displaying changes in the SN in PD patients, the application of this method in the early and differential diagnosis of Parkinson related movement disorders is already part of the basic diagnostics in the clinical setting. To date, intensive research is examining the properties of this method in various diseases, especially Tideglusib in those where metal accumulation is causative or a result of the disorder. Unfortunately, this research usually is performed and focussed on adults. Because of the simplicity of this method, the ability to use it in patients without sedation and the lack of side effects a broader application is desirable with special focus on the pediatric field. “
“The estimation of cerebral venous hemodynamic disturbances in literature is described mainly in adults. Diagnosis of such disturbances in children is not detected in time, though they often turn out to be one of the main evidence of cerebrovascular pathology.