Jens Uwe Regula

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Here we report on a case of contactin-associated protein-2 (Caspr2) antibody positive but voltage gated potassium channel (VGKC) antibody negative limbic encephalitis associated with cerebellar ataxia, myoclonus and dyskinesias with favorable response to immunotherapy. This case underlines the importance of Caspr2-specific antibody testing and demonstrates(More)
BACKGROUND Spinocerebellar ataxia type 17 (SCA17) is caused by abnormal expansions of CAG/CAA trinucleotides within the TATA-box binding protein gene (TBP). The currently accepted critical threshold of abnormal expansions is ≥43. OBJECTIVE To investigate the minimal CAG/CAA expansion within the TBP in SCA17. RESULTS 285 patients with autosomal-dominant(More)
The objective of this study was to evaluate the clinical usefulness of whole-body magnetic resonance imaging (MRI) in facio-scapulo-humeral muscular dystrophy (FSHD). In 20 patients with genetically proven FSHD1, we prospectively assessed muscular involvement and correlated the results of semi-quantitative manual muscle testing and other parameters such as(More)
BACKGROUND Intracerebral hemorrhage (ICH) with intraventricular extension (IVH) is a devastating disease with a particular high mortality. In some aspects, IVH may resemble subarachnoid hemorrhage. The incidence and role of cerebral vasospasm in ICH with IVH are poorly understood. Here, we aimed to analyze the incidence and relationship of cerebral(More)
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