Journal Article

Gait impairments remain a major therapeutic challenge in Parkinson's disease (PD). Apomorphine is gaining renewed clinical attention with the expanding use of pump infusion systems. [...]

Predicting conversion to dementia in mild cognitive impairment with Lewy bodies (MCI-LB) remains challenging. Furthermore, there is limited research combining predictive markers in MCI-LB. [...]

Dementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia, yet it remains under-recognised and misdiagnosed, which delays treatment, causes inaccurate prognosis and limits research opportunities. Imaging with 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) is a supportive DLB biomarker. [...]

Pupil dilation (PD) can be easily measured and reflects responses to subjectively salient or cognitively demanding events. It therefore holds promise as a cognitive marker, especially for individuals with mild cognitive impairment (MCI) or other neurodegenerative conditions with restricted abilities to respond in cognitive assessments.We assessed PD during two tasks, an oddball task for investigating attentional allocation and a Simon task, which additionally allows for investigating cognitive effort in younger adults (YAs), older adults (OAs), and patients with MCI.PD is a useful marker for investigating attention and cognitive effort in MCI, as suggested by elevated PD to salient stimuli in particular of individuals with better attentional control in MCI patients, as well as YAs and OAs.Measurement of PD may serve as an easy-to-administer measure to assess changes in cognitive function in healthy aging and MCI..

Antisense oligonucleotides (ASOs) are an emerging therapeutic approach for genetically induced neurological disorders such as spinal muscular atrophy (SMA). For SMA, the Food and Drug administration (FDA)-approved ASO Nusinersen (Spinraza®) restores exon 7 inclusion in survival motor neuron (SMN) 2, leading to improved motoneuron survival [...]

White matter abnormalities are consistently observed in Shank3-related autism spectrum disorders (ASD), yet the mechanisms underlying oligodendrocyte dysfunction and myelination deficits remain poorly characterized. Here, we demonstrate that Shank3 deficiency disrupts oligodendrocyte development by promoting oligodendrocyte precursor cell (OPC) proliferation while impairing functional maturation and myelination. [...]

Individuals with Down syndrome (DS) are at risk for Alzheimer's disease (AD). However, diagnosis remains challenging due to variability of intellectual ability and symptom presentation. [...]

Positron emission tomography (PET) of the brain using [18F]fluorodeoxyglucose (FDG) is becoming increasingly important for the diagnosis and differential diagnosis of atypical parkinsonian syndrome such as multiple system atrophy (MSA), which is characterized by hypometabolism of the putamen, pons, and cerebellum. We report on a patient with clinically established MSA based on a rapidly progressive, poorly levodopa-responsive parkinsonian syndrome, multidomain autonomic failure, and imaging findings where hereditary spastic paraplegia was discussed as a differential diagnosis. [...]

The development and suitability testing of quality indicators for geriatric psychiatry.The indicators were developed by a group of experts and evaluated in terms of significance, scientific validity and practicability (according to QUALIFY). After a field test, qualitative interviews were conducted with the evaluators.All 24 indicators originally developed were classified as significant, 18 of them as scientific. [...]

Spinocerebellar Ataxia Type 3 (SCA3) is an autosomal dominant neurodegenerative Polyglutamine (polyQ) disease, caused by a cytosine-adenine-guanine (CAG) repeat expansion in the ATXN3 gene, resulting in an expanded polyQ tract in the Ataxin-3 protein. Although the principal genetic determinant of the age at onset (AAO) in polyQ diseases is the expanded CAG repeat length, variability in AAO has been explained only partly, suggesting the existence of additional genetic modifiers. [...]