Research at the Queen Square Brain Bank for Neurological Disorders includes studies on Parkinson's disease. In one such collaborative study, carried out by several groups of the Department of Molecular Neuroscience, UCL Institute of Neurology, we characterized the expression of PINK1 protein in normal human and sporadic Parkinson's disease brains in addition to Parkinson's cases with heterozygous PINK1 mutations. With brain fractionation studies we confirmed that PINK1 is localized to the mitochondrial membranes. In addition, we showed that PINK1 is present in a proportion of Lewy bodies in cases of sporadic Parkinson's disease and Parkinson's disease associated with heterozygous mutations in the PINK1 gene. Our studies provided for the first time in vivo morphological and biochemical evidence to support a mitochondrial localization of PINK1 and support the significance of mitochondrial dysfunction in the pathogenesis of Parkinson's disease. Alpha synuclein is studied in relation to sporadic Parkinson's disease. By studying Parkinson cases, which were treated in life with transplantation of human embryonal mesencephalic dopaminergic cells into the patients striatum, we were able to show that the disease spreads from the host to graft.

The large, well documented case collection of the QSBB has also permitted detailed clinicopathological studies of different movement disorders, such as multiple system atrophy, progressive supranuclear palsy and frontotemporal dementias. In studies on progressive supranuclear palsy we were able to demonstrate an association between cerebral accumulation of hyperphosphorylated tau and clinical phenotypes. Examples of rare diseases in the collection have led to the identification of their genetic abnormalities and/or enabled us to perform detailed description and study of entities such as the familial British and familial Danish dementias and neurofilament inclusion body disease.