Publications by authors named "Anja Tietz"
Archimedes Spiral Ratings: Determinants and Population-Based Limits of Normal.
Mov Disord Clin Pract
October 2024
Background: Tremor is commonly found among healthy humans or prevalently a symptom of neurological dysfunctions. However, the distinction between physiological and pathological tremor is dependent on the examiner's competence. Archimedes Spiral Rating (ASR) is a valid and reproducible semi-quantitative method to assess the severity of action tremor.
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- Multiple System Atrophy (MSA) is a rare neurodegenerative disease characterized by abnormal protein aggregation and leads to motor and autonomic dysfunction.
- Previous genetic studies didn’t find variants linked to MSA, prompting researchers to focus on autopsy-confirmed cases rather than merely clinical diagnoses.
- The study identified significant genetic markers associated with MSA (located on chromosomes 3, 4, and 8), particularly highlighting the potential role of the ZIC4 gene in neuron vulnerability, especially in patients with different MSA types.
Article Synopsis
- Autoimmune neurological syndromes (AINS) associated with anti-GAD65 autoantibodies lead to various neurological symptoms, including seizures and cerebellitis, and also have a connection to autoimmune diabetes.
- A genome-wide association study (GWAS) in a German cohort revealed 16 significant genetic loci linked to susceptibility to AINS, with a notable variant in the HLA class I region.
- Over 40% of identified genetic variants affect the expression of genes in immune and neural cells, emphasizing the relationship between immune response and neurological function through specific pathways.
Anti-IgLON5 disease is a newly defined clinical entity characterized by a progressive course with high disability and mortality rate. While precise pathogenetic mechanisms remain unclear, features characteristic of both autoimmune and neurodegenerative diseases were reported. Data on immunotherapy are limited, and its efficacy remains controversial.
View Article and Find Full Text PDFGenome-wide Association Study Identifies 2 New Loci Associated With Anti-NMDAR Encephalitis.
Neurol Neuroimmunol Neuroinflamm
November 2021
Article Synopsis
- The study investigates the genetic factors involved in anti-NMDA receptor (anti-NMDAR) encephalitis, a common autoimmune brain disease.
- Researchers conducted a genome-wide association study with 178 patients and 590 healthy individuals, identifying significant genetic variants on chromosomes 15 and 11.
- The findings indicate potential causal genes linked to immune function and inflammation, suggesting further research could uncover more genetic influences and clarify the disease's mechanisms.