As the MRI displays typical signs (e.g. “face of the giant panda” and the “bright claustrum”) in this disease, it appears as one of the most important diagnostic tools in differential diagnosis. However, especially in children, MRI examination is laborious and most of the children need sedation . This is, besides the costs, a limiting factor
of this method and highlights the necessity for the implementation of a screening method. Walter et al. demonstrated typical changes in the lenticular nucleus by TCS with increasing echogenicity BYL719 in vitro depending on the disease activity in Wilson’s disease patients . These results raise the hope, that TCS can be useful as a screening method in addition to copper and ceruloplasmin analysis in serum. A second movement disorder with adolescent onset is Friedreich’s E7080 solubility dmso ataxia. It is the most common among the inherited ataxias in Europe. The main clinical features are dysarthria, pyramidal tract damage and progressive ataxia . The first clinical symptoms of Friedreich’s ataxia normally appear
during puberty, but also early and late onset variants exist . To date, the diagnosis is based on clinical examination, supported by electrophysiological findings and proven by genetic analysis with confirmation of a GAA expansion within the first exon of the Frataxin gene . Recently Synofzik et al. published their study, which examined TCS in patients suffering from Friedreich’s ataxia. Interestingly they could show hyperechogenic changes in the dentate nucleus, which was present in 85% of all patients and already visible after short disease duration . This finding was accompanied by a hypoechogenic SN. One possible explanation for the hyperechogenicity of the dentate nucleus as discussed by the authors is an increased iron content, which is also detectable on T2*-weighted MRI images . The authors DOCK10 see TCS useful for assessment of patients suffering from ataxia. One shortcoming is, that dentate nucleus hyperechogenicity is not specific
for Friedreich’s ataxia, but was also found in patients suffering from spinocerebellar ataxia type 3 (SCA3) . In contrast to Friedreich’s patients though, the hyperechogenicity appeared less frequent (54%) and in combination with SN hyperechogenicity (40%). Taken together, these two studies provide evidence for the usefulness of TCS in the differential diagnosis of ataxias, but further studies are needed to validate these data, especially a direct comparison of patients with Friedreich’s ataxia to those suffering from SCA3 are needed to rule out the real diagnostic potential of TCS. Neurodegeneration with brain iron accumulation, formerly known as Hallervorden–Spatz syndrome is a movement disorder with early onset and a wide range of initial neurological symptoms. The estimated prevalence is 1–3 per million.