Neurologic involvement in cystinosis: Focus on brain lesions and new evidence of four-repeat (4R-) Tau immunoreactivity
Nephropathic cystinosis is a rare autosomal recessive storage disorder caused by CTNS gene mutations, leading to autophagy-lysosomal pathway impairment and cystine crystals accumulation. Neurologic involvement is highly variable and includes both neurodevelopmental and neurodegenerative disturbances, as well as focal neurologic deficits. By presenting longitudinal data of a 28-year-old patient with a large infratentorial lesion, we summarized the pathology, clinical and imaging features of neurological involvement in cystinosis patients.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tommaso Nicoletti, Andrea Bink, Birgit Helmchen, Nils Briel, Karl Frontzek, Benjamin Vlad, Ariana Gaspert, Elisabeth Boudriot, Hans Heinrich Jung, Anna Maria Reuss, Michael Weller, Tibor Hortob ágyi Source Type: research