Dietrich Haubenberger

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BACKGROUND Antonovsky's salutogenic model of the "Sense of Coherence" (SOC) is an important resource in dealing with chronic diseases. The aim of this study was to investigate SOC as a psychological factor and its correlation with illness, subjective well-being, and health-related quality of life (QoL) in patients with Parkinson disease (PD) compared to(More)
The transcription factors PITX3 and Engrailed 1 (EN1), among others, have been shown to play a crucial role in the maturation and survival of midbrain dopaminergic neurons. The degeneration of those neurons is the pathological hallmark in Parkinson's disease (PD). In a hypothesis-driven candidate gene approach, it has been recently shown that polymorphisms(More)
Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP gene (R159H; 688G>A) segregating with this disease in an Austrian family of four affected(More)
Essential tremor, one of the most prevalent movement disorders, is characterized by kinetic and postural tremor affecting activities of daily living. Spiral drawing is commonly used to visually rate tremor intensity, as part of the routine clinical assessment of tremor and as a tool in clinical trials. We present a strategy to quantify tremor severity from(More)
Approximately 20% of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset familial PD followed by frequency assessment in 975 PD cases and 1014 ethnically-matched controls(More)
BACKGROUND Families associated with missense mutations in the valosin-containing protein (VCP) present with a rare autosomal dominant multisystem disorder of frontotemporal lobar degeneration (FTLD), inclusion body myopathy (IBM), and Paget disease of bone (PDB), referred to as IBMPFD. METHODS We used exon-based genomic DNA sequencing to test for VCP(More)
BACKGROUND This article proposes an International Parkinson and Movement Disorder Society (MDS)-UPDRS tremor-based scale and describes its measurement properties, with a view to developing an improved scale for assessing tremor in Parkinson's disease (PD). METHODS This was a cross-sectional, multicenter study of 435 PD patients. Rasch analysis was(More)
Recently, mutations in eukaryotic translation initiation factor 4G1 (EIF4G1) were reported as a rare cause of familial Parkinson’s disease (PD). We screened the 33 exons of EIF4G1 by high-resolution melting curve analysis for variants in our Central European cohort of 376 PD cases. Variant frequency was assessed in a total of 975 PD cases and 1,014 general(More)
OBJECTIVE To assess safety and efficacy of an oral, single, low dose of octanoic acid (OA) in subjects with alcohol-responsive essential tremor (ET). METHODS We conducted a double-blind, placebo-controlled, crossover, phase I/II clinical trial evaluating the effect of 4 mg/kg OA in 19 subjects with ET. The primary outcome was accelerometric postural(More)
The Movement Disorder Society established a task force to review rating scales for the assessment of tremor. Screening instruments used in identifying patients with tremor were also reviewed. Seven tremor severity scales, six activities of daily living (ADL)/disability scales, four quality-of-life scales, and five screening instruments were identified by(More)