| Course Description: |
General Principles of Neurogenetics
• General principles and applications of Molecular Biology in the pathology of the Nervous System
• Introductory concepts-Structure and function of DNA, RNA
• Polymorphisms-Mutations-Chromosomal abnormalities
• Modes of inheritance: Mendelian Inheritance
• Mitochondrial Inheritance
• Genetics of multifactorial diseases
• Genetic association studies
Genetics of Vascular Stroke
• Introductory concepts of ischemic and hemorrhagic events
• Presentation of literature data on genetic risk factors in genes affecting lipid metabolism, coagulation processes, inflammation and blood pressure regulation
• Genetic association studies in ischemic stroke
• Genetic association studies in hemorrhagic stroke
Genetics of ALS
• Introductory pathophysiology and clinical features of ALS
• Genetics of familial forms of ALS (familial ALS)
• Genetics of sporadic forms of ALS (sporadic ALS)
• Genetic epistasis, the role of environmental factors, elements of epigenetics
Genetics of Extrapyramidal Syndromes
• Introductory targets of disorders of the extrapyramidal system (Parkinson's disease, Corticobasal degeneration, Progressive supranuclear palsy, Dementia with Lewy bodies, Huntington's chorea, Multiple system atrophy)
• Genetics of monogenic forms of Parkinson's Disease (SNCA, LRRK2, Parkin, PINK1, DJ‐1, ATP13A2, UCHL1, GIGYF2, HTRA,VPS35, EIF4G1, TMEM230, CHCHD2, RIC3, PRKN, SYNJ1, VPS13C, MART genes)
• Genetic risk factors in Parkinson's disease (Data from patient-control studies and GWASs)
• Genetic architecture of Corticobasal degeneration
• Genetics of progressive supranuclear palsy - the role of MAPT and LRRK2 genes
• Genetics of dementia with Lewy bodies
o the role of PD-related genes (SNCA, LRRK2, GBA),
o the role of AD-related genes (PSEN1, PSEN2, APP, APOE, MAPT)
o genetic risk factors (GBA and APOE genes)
• Genetics of Huntington's Chorea (HTT gene)
• Genetics of Multiple System Atrophy :
o 1) the role of coenzyme Q2,
o 2) data from GWAS for SNCA, FBXO47, ELOVL7, EDN1 and MAPT genes,
o 3) the role of genes related to ataxia, PD, oxidative stress, neuroinflammation
Genetics of Polyneuropathies
• Introductory concepts for polyneuropathies
• Genetic architecture of Charcot-Marie-Tooth (CMT)
• Other hereditary neuropathies (Hereditary sensory neuropathy, Distal hereditary motor neuropathy, Leukodystrophy Familial amyloidosis, Fabry disease, Refsum disease, Tangier disease, Mitochondrial disorders)
Genetics of Multiple Sclerosis
• Introductory information on Multiple Sclerosis
• Environmental, genetic, epigenetic factors
• The role of mutations in HLA genetic regions
• Data from GWASs, patient control studies, meta-analyses
• Polymorphisms in SELP, ITGA4, ITGB1, ITGB7, ICAM1, VCAM1, MADCAM-1, FN1) and SPP1 genes
Genetics of Dystonia
• Dystonia-Introductory concepts
• Monogenic forms of dystonia (TOR1A, HPCA, TAF1, TUBB4A, TH, GCH1, THAP1, MR1, PRRT2, SGCE, ATP1A3, GCH1, PRKRA, SLC2A1, CACNA1B, ANO3, GNAL, KCTD17, COL6A3, KMT2B, and MECR genes)
• Genetic risk factors in dystonia (TOR1A, BDNF, DRD5, APOE, ARSG, NALC, OR4X2, COL4A1, TH, DDC, DBH, MAO, COMT, DAT, GCH1, PRKRA, MR-1, SGCE, ATP1A3, TAF1, THAP1 , GNAL, DRD2, HLA-DRB, CBS, MTHFR, and MS genes)
o Data from patient control studies
o Data from GWASs and WES
Genetics of Idiopathic Terror and Control Disorders
• Idiopathic tremor-Introductory facts
• ETM1, ETM2, ETM3 genetic regions
• The role of LINGO1, LINGO2, LINGO4, SLC1A2, DRD3, ALAD, VDR, HMOX1, HMOX2, LRRK1, LRRK2, GBA, SNCA, MAPT, FUS, CYPs IL17A, IL1B, NOS1, ADH1B, MTHFR, GABAAR, GABA transporter, HNMT, ADH2, TREM2, PPARGC1A, RIT2, CTNNA3, STK32B, TREM2, HS1BP3, CACNL1A4, PPP2R2B genes
• Data from GWASs
• Genetics of spinocerebellar ataxias (Genes and Clinical Phenotypes)
• Genetics of Friedreich's Ataxia
Genetics of Hereditary Spastic Paraplegias
• Introduction to Hereditary Spastic Paraplegia (HSP)
• Genes and gene loci associated with autosomal dominant HSP
• The SPG4 subtype
Genetics of Dementia
• Introduction to Insanity
• Alzheimer's disease
• Environmental, genetic and epigenetic risk factors in Dementia
• Monogenic forms of Alzheimer's disease (APP1, PSEN1, PSEN2 genes)
• Genetic risk factors in Alzheimer's disease - The role of APOE and TREM2 genes
Genetics of Mitochondrial Diseases
• Mitochondrial Diseases
• Mutations in mitochondrial DNA
Genetics of Neuromuscular Disorders
• Introduction to Neuromuscular Disorders
• Myotonic dystrophy type 1 (DM1)
• Myotonic dystrophy type 2 (DM2)
• Spinal muscular atrophy (SMA) genetics
Laboratory Techniques
• DNA isolation
• Polymerase Chain Reaction (PCR: Polymerase Chain Reaction)
• Digestion with restriction enzymes (Restriction fragment length polymorphism‐RFLP)
• Real‐Time PCR
• Decoding the DNA sequence (DNA sequencing)
• High-resolution electrophoretic size separation (Fragment analysis)
• MLPA (Multiplex Ligation‐dependent Probe Amplification)
• MS‐MLPA (Methylation Status‐MLPA)
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