Disease Motifs
Investigating the Biomechanics of Disease
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Phenotypic GSS Models

Typical GSS


Spastic Paraparesis P105L

In some families spastic paraparesis seemed to be the main symptom of the disease and the cerebellar dysfunction was not as prominent.

Alzheimer-like GSS without Aβ plaques F198S

Neocortical Neurofibrillary Tangles

Alzheimer-like GSS with Aβ plaques P105L with Q217R together

Neocortical Neurofibrillary Tangles and Aβ plaques

Alzheimer/Parkinson-like Q217R

Neocortical Neurofibrillary Tangles and degeneration in the Substantia Nigra