Rare neurodegenerative diseases

My research focuses on rare neurodegenerative diseases. In particular, I am interested in inborn errors of metabolism, such as lysosomal storage disorders M. Niemann-Pick, type C, or GM2-Gangliosidoses (M. Tay-Sachs, M. Sandhoff), and cerebellar ataxias (e. g. Ataxia telangiectasia). Of interest are also balance disorders, e. g. dizziness in the elderly.

Rare diseases are often neglected in clinical practice, due to their phenotyping heterogeneity, and complexity. Establishing sensitive and specific biomarkers in these rare disorders leads to earlier diagnosis / recognition of the condition, and (if available) avoids delays in access to disease-modifying treatments. Well-established biomarkers also capture the disease metrics in the disease course, and can be used as surrogate endpoints in clinical trials. The eyes are a promising biomarker, as they are easy to examine, and provide a convenient access to study the brain health.

Staff: 

• Stavros Skouras, PhD: Innosuisse project manager
• Anna Coito, PhD: Medical Writer (60%)
• Julian Lehmann, BSc: Technician
• Moritz Lehman: Intern medical student

• Laksana Sivapatham: Intern medical student (incoming 2023)

Research Methods:

infra-red video-oculography, VR-based video-oculography, video-based head-impulse test, randomized clinical trials, posturography, gait analysis, vestibular evoked myogenic potentials, questionnaire-based assessments

Overview:

Overview of saccadic phenotypes in a healthy control and in NPC patients: A continuum. Phenotypes of vertical downward saccades in NPC disease are depicted. Red indicates the vertical eye movement and blue the horizontal eye movement. Grey depicts the stimulus. Figure A shows a vertical downward saccade of a normal subject. Note the high peak velocity (steep line) trajectory without fluctuations, latency <250 ms, amplitude and precision without hypo‐ or hypermetria, and trajectory without curving. A common finding in NPC is saccadic hypometria (B) >20% of the whole saccade. If hypometria is very profound, so‐called staircase saccades, seen also often in patients with atypical Parkinson syndromes, are generated (C). Also notice a prolonged latency (time from the stimulus onset to the initiation of the downward movement). Reduced velocity of vertical saccades is depicted in (D), with a downward saccadic palsy in E. Note that that there is still extremely slow, pursuit‐like movement, and the actual saccade performance takes more than two seconds. One of the most remarkable strategies seen in NPC is blinking (F). This strategy is used to initiate saccades that are already impaired. In contrast, patients with parkinsonian disorders do not blink to compensate for saccadic palsy due to lid apraxia or blepharospasmus. Note the continuum of saccadic impairment with different saccadic phenotypes. 

From Kaya E. 2020

Source of Funding

1. Baasch-Medicus Foundation
2. University of Bern
3. InnoSuisse