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Int J Mol Sci. 2015 Oct 16;16(10):24629-55. doi: 10.3390/ijms161024629.

Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.

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Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
Department of Neurology, Johns Hopkins University School of Medicine, 1800 Orleans Street, Baltimore, MD 21287, USA.
Department of Molecular Neuroscience, University College London, Institute of Neurology, Queen Square House, London WC1N 3BG, UK.


Atypical parkinsonism syndromes, such as dementia with Lewy bodies, multiple system atrophy, progressive supranuclear palsy and corticobasal degeneration, are neurodegenerative diseases with complex clinical and pathological features. Heterogeneity in clinical presentations, possible secondary determinants as well as mimic syndromes pose a major challenge to accurately diagnose patients suffering from these devastating conditions. Over the last two decades, significant advancements in genomic technologies have provided us with increasing insights into the molecular pathogenesis of atypical parkinsonism and their intriguing relationships to related neurodegenerative diseases, fueling new hopes to incorporate molecular knowledge into our diagnostic, prognostic and therapeutic approaches towards managing these conditions. In this review article, we summarize the current understanding of genetic mechanisms implicated in atypical parkinsonism syndromes. We further highlight mimic syndromes relevant to differential considerations and possible future directions.


atypical parkinsonism; corticobasal degeneration; dementia with Lewy bodies; multiple system atrophy; progressive supranuclear palsy

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