Kappa free light chains: diagnostic and prognostic relevance in MS and CIS.

Background: Quantification of kappa free light chains (KFLC) in cerebrospinal fluid shows high diagnostic sensitivity in multiple sclerosis and clinically isolated syndrome patients. However, a clearly defined threshold value is still missing and a possible prognostic value of the KFLC levels in these patients remains undefined.

Methods: Results of KFLC quantification in 420 controls were used to set an upper limit of normal KFLC concentration in CSF under different blood-CSF-barrier conditions.

VPS35 Parkinson's disease phenotype resembles the sporadic disease.

Recently a new autosomal dominant Parkinson's disease mutation (p.Asp620Asn) in the VPS35 gene was discovered. The clinical features of 14 PD patients with this mutation from three Austrian families were evaluated.

Supplementary value of functional imaging in forensic medicine.

Aim: The aim of this study is to evaluate the role of functional imaging for forensic purposes.

Methods: We reviewed a few outpatient cases that were sent to our department for examination after traumatic events and one case with neuropsychic disturbances.

Results: Functional imaging showed signs of traumatic lesions in the skeletal system, of brain metabolism and of renal failure.

Amyloid PET and MRI in Alzheimer's disease and mild cognitive impairment.

The neurodegenerative disorder Alzheimer's disease (AD) is the most common form of dementia. It is characterized by progressive impairment of cognitive functions and behavior. To distinguish clinically AD from other forms of dementia is an ongoing challenge.

Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease.

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 in the genes coding for PITX3 and EN1 are associated with sporadic PD.