Huntington DiseaseGenes, DominantPedigreeTelangiectasia, Hereditary HemorrhagicMutationGenetic LinkagePhenotypeMutation, MissenseTrinucleotide Repeat ExpansionDNA Mutational AnalysisBase SequenceTrinucleotide RepeatsMolecular Sequence DataChromosomes, Human, Pair 4Nerve Tissue ProteinsPolycystic Kidney, Autosomal DominantPolymerase Chain ReactionGenetic Diseases, InbornGenetic TestingNuclear ProteinsAge of OnsetProtoporphyria, ErythropoieticDisease Models, AnimalGenetic MarkersAllelesQuinolinic AcidHeterozygoteMuscular Dystrophy, FacioscapulohumeralCorpus StriatumChoreaGenes, Recessive3-Hydroxyanthranilate 3,4-DioxygenaseExonsRats, TransgenicProdromal SymptomsGenotypeMice, TransgenicNeurodegenerative DiseasesWitchcraftChromosome MappingBrainHaplotypesAtrophyRotarod Performance TestCaudate NucleusHomozygoteNeostriatumTetrabenazineMythologyTRPP Cation ChannelsQuinolinic AcidsPoint MutationLod ScorePeptidesNeuronsRetinitis PigmentosaMutant ProteinsInclusion BodiesNerve Fibers, UnmyelinatedGene Knock-In TechniquesAmino Acid SequenceGenetic CounselingChromosome BandingDisease ProgressionPutamenOptic Atrophy, Autosomal DominantDopamine and cAMP-Regulated Phosphoprotein 32Polymorphism, Restriction Fragment LengthLipoylationDNAFamilyMagnetic Resonance ImagingHeterozygote DetectionGenetic Predisposition to DiseaseEarly DiagnosisNitro CompoundsFamily HealthGene Expression RegulationCataractPolycystic Kidney DiseasesCADASILRestriction MappingNerve DegenerationCell LineSyndromeCognition DisordersAge FactorsRibosomal ProteinsProteinsGene ExpressionAutophagySeverity of Illness IndexCells, CulturedModels, GeneticCerebral CortexGene FrequencyTranscription FactorsLongitudinal StudiesRepetitive Sequences, Nucleic AcidSequence Analysis, DNA