Movement Disorder Genetics

Genetics of Mendelian Forms of Parkinson's Disease.- Genetics of Parkinson's Disease.- Genetics of Atypical Parkinsonism.- Genetics of Dementia with Lewy Bodies.- Genetics of Frontotemporal Dementia.- Genetics of Primary Tremor Disorders.- Genetics of Dystonia.- Genetic Choreas.- Genetics of Tourette Syndrome.- Genetics of Paroxysmal Dyskinesia.- Genetics of Dominant Ataxias.- Genetics of Recessive Ataxias.- Genetics of NBIA Disorders.- Genetics of Metal Disorders (Excluding NBIA).- Genetics of Restless Legs Syndrome (RLS).- Genetics of Hereditary Spastic Paraplegias (HSP).- Genetics of ALS.- Genetics of Mitochondrial Disease with Focus on Movement Disorders.- Introduction to Genetics and Genetic Counseling for Clinicians.- Genetic Testing - An Industrial Perspective.- Direct-to-Consumer DNA Genetic and Genomic Testing.- Current Ethical Issues Related to the Implementation of Whole Exome and Whole Genome Sequencing.- Implications for Health and Life Insurances and Other Legal Aspects of Genetic Testing.

Susanne A. Schneider is a consultant neurologist and clinician scientist at the Department of Neurology in Kiel, Germany. She completed her neurology specialty training at the Queen Square Institute of Neurology in London, England and the University of Lübeck, Germany. She has always had a great interest in movement disorders with focus on movement disorder genetics and electrophysiology. She holds a Ph.D. degree in neurosciences from University College London. She has received many awards, among others the European Dystonia Society David Marsden Award and the AAN Jon Stolk Award in Movement Disorders for Young Investigators. She has published more than 120 papers and is one of the four co-authors of Marsden's Book of Movement Disorders. Selected publications include:

Schneider SA, van de Warrenburg BP, Hughes TD, Davis M, Sweeney M, Wood N, Quinn NP, Bhatia KP. Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology 2006;67(9):1701-3.

Schneider SA, Walker RH, Bhatia KP. The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. Nat Clin Pract Neurol. 2007;3(9):517-25.

Schneider SA, Djarmati A, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Rakovic A, Schmidt A, Jabusch HC, Wilcox R, Kostic VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C. Mutations in the THAP1 (DYT6) gene- a cause of generalized dystonia with prominent spasmodic dysphonia. Lancet Neurol 2009;8(5):447-52.

Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Characterisation of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol. 2009;65:19-23.

Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet. 2012;21(12):2646-50