Huntington DiseaseGenes, DominantPedigreeMutationTelangiectasia, Hereditary HemorrhagicMutation, MissenseGenetic LinkagePhenotypeDNA Mutational AnalysisTrinucleotide Repeat ExpansionBase SequenceTrinucleotide RepeatsPoint MutationMolecular Sequence DataChromosomes, Human, Pair 4Polymerase Chain ReactionNerve Tissue ProteinsPolycystic Kidney, Autosomal DominantGenetic Diseases, InbornGenetic TestingHeterozygoteAllelesNuclear ProteinsAge of OnsetDisease Models, AnimalGenes, RecessiveProtoporphyria, ErythropoieticGenetic MarkersExonsQuinolinic AcidMuscular Dystrophy, FacioscapulohumeralGenotypeChoreaCorpus Striatum3-Hydroxyanthranilate 3,4-DioxygenaseFrameshift MutationHomozygoteChromosome MappingRats, TransgenicMice, TransgenicProdromal SymptomsNeurodegenerative DiseasesWitchcraftBrainAtrophyHaplotypesMutant ProteinsRotarod Performance TestGerm-Line MutationCaudate NucleusRetinitis PigmentosaNeostriatumTRPP Cation ChannelsLod ScoreTetrabenazineMythologyPeptidesQuinolinic AcidsNeuronsInclusion BodiesGene Knock-In TechniquesGenetic CounselingHeterozygote DetectionNerve Fibers, UnmyelinatedDisease ProgressionAmino Acid SequenceGenetic Predisposition to DiseaseChromosome BandingOptic Atrophy, Autosomal DominantAmino Acid SubstitutionPutamenPolymorphism, Restriction Fragment LengthFamilyDNASyndromeFamily HealthPolymorphism, Single-Stranded ConformationalDopamine and cAMP-Regulated Phosphoprotein 32LipoylationCell LineCodon, NonsenseMagnetic Resonance ImagingProtein Structure, TertiaryModels, GeneticCataractSequence Analysis, DNAEarly DiagnosisNitro CompoundsGene FrequencyMutation RatePenetranceTranscription FactorsPolycystic Kidney DiseasesGenetic HeterogeneityCADASILNerve DegenerationProteinsCells, CulturedProtein BindingEye Proteins