This article summarizes evident and recent findings on the characteristics of the neurological phenotype in ataxia telangiectasia (AT), reviews neuropathological and neuroradiological findings, and outlines therapeutic treatment options. In addition, this review offers an overview of current hypotheses on mechanisms of neurodegeneration in AT and discusses their relevance in clinical neurology. The obvious features of neurodegeneration in AT-cerebellar ataxia and dysarthia-are accompanied by a variety of further disabling disease symptoms. Review of the literature outlines a complex pattern of central nervous degeneration in AT that might have been underestimated so far. Neurodegeneration in AT is closely related to the absence or partial lack of the ataxia telangiectasia-mutated (ATM) kinase. ATM is a central player in maintaining cellular homeostasis. Systemic review of the literature reveals a subset of cellular targets hypothesized to count responsible for degeneration in ATM-deficient neurons. Further systematic cliniconeurological, pathoanatomical, and neuroradiological studies are required to understand the structural basis of this neurodegenerative disease. This better understanding has implications for the treatment of AT patients. Second, biochemical and molecular biological studies aimed at deciphering the pathomechanisms of this progressive disorder are necessary for the development of promising future therapies.

Ataxia telangiectasia (A-T) is a devastating multi-system disorder characterized by progressive cerebellar ataxia, immunodeficiency, genetic instability, premature aging and growth retardation. Due to better care the patients get older than in the past and new disease entities like disturbed glucose tolerance and liver disease emerge. The objective of the present investigation is to determine the evolution of liver disease and its relation to age and neurological deterioration. The study included 67 patients aged 1 to 38 years with classical A-T. At least two measurements of liver enzymes were performed within a minimum interval of 6 months in 56 patients. The median follow-up period was 4 years (1–16 years). A total of 316 liver enzyme measurements were performed. For analysis, patients were divided into two age groups (Group 1: <12 years; group 2: ≥12 years). In addition, ultrasound of the liver and Klockgether Ataxia Score (KAS) were analyzed. We found significantly higher levels of alpha-fetoprotein (AFP) (226,8 ± 20.87 ng/ml vs. 565,1 ± 24.3 ng/ml, p < 0.0001), and liver enzymes like ALT (23.52 ± 0.77 IU/L vs. 87.83 ± 5.31 IU/L, p < 0.0001) in patients in group 2. In addition, we could show a significant correlation between age and AFP, GGT, and KAS. Ultrasound revealed hepatic steatosis in 11/19 (57.9%) patients in group 2. One female patient aged 37 years died due to a hepato-cellular carcinoma (HCC). Liver disease is present in the majority of older A-T patients. Structural changes, non-alcoholic fatty liver disease and fibrosis are frequent findings. Progress of liver disease is concomitant to neurological deterioration.

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Background: Ensuring that all medical students achieve adequate clinical skills remains a challenge, yet the correct performance of clinical skills is critical for all fields of medicine. This study analyzes the influence of receiving feedback by teaching associates in the context of achieving and maintaining a level of expertise in complex head and skull examination. Methods: All third year students at a German university who completed the obligatory surgical skills lab training and surgical clerkship participated in this study. The students were randomized into two groups. Control group: lessons by an instructor and peer-based practical skills training. Intervention group: training by teaching associates who are examined as simulation patients and provided direct feedback on student performance. Their competency in short-and long-term competence (directly after intervention and at 4 months after the training) of head and skull examination was measured. Statistical analyses were performed using SPSS Statistics version 19 (IBM, Armonk, USA). Parametric and non-parametric test methods were applied. As a measurement of correlation, Pearson correlations and correlations via Kendall's-Tau-b were calculated and Cohen's d effect size was calculated. Results: A total of 181 students were included (90 intervention, 91 control). Out of those 181 students 81 agreed to be videotaped (32 in the control group and 49 in the TA group) and examined at time point 1. At both time points, the intervention group performed the examination significantly better (time point 1, p = <.001; time point 2 (rater 1 p = .009, rater 2 p = .015), than the control group. The effect size (Cohens d) was up to 1.422. Conclusions: The use of teaching associates for teaching complex practical skills is effective for short-and long-term retention. We anticipate the method could be easily translated to nearly every patient-based clinical skill, particularly with regards to a competence-based education of future doctors.