Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. 1995

C Yapijakis, and E Kapaki, and C Zournas, and M Rentzos, and D Loukopoulos, and C Papageorgiou
Department of Neurology, Athens University, Eginition Hospital, Greece.

A Greek family is presented in which seven members suffered from benign hereditary chorea (a rare autosomal dominant non-progressive chorea without dementia). All patients and three informative healthy relatives were submitted to DNA analysis using probes from loci linked to Huntington's disease. The results confirm one previous suggestion that these two disorders are not allelic and that they should be considered as two distinct genetic entities.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012091 Repetitive Sequences, Nucleic Acid Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES). DNA Repetitious Region,Direct Repeat,Genes, Selfish,Nucleic Acid Repetitive Sequences,Repetitive Region,Selfish DNA,Selfish Genes,DNA, Selfish,Repetitious Region, DNA,Repetitive Sequence,DNA Repetitious Regions,DNAs, Selfish,Direct Repeats,Gene, Selfish,Repeat, Direct,Repeats, Direct,Repetitious Regions, DNA,Repetitive Regions,Repetitive Sequences,Selfish DNAs,Selfish Gene
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002819 Chorea Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES. Choreatic Disorders,Choreiform Movement,Chorea Disorders,Chorea Syndromes,Chorea, Benign Hereditary,Chorea, Chronic Progressive,Chorea, Rheumatic,Chorea, Senile,Chorea, Sydenham,Choreatic Syndromes,Choreic Movement,Dyskinesias, Paroxysmal,Hereditary Chorea,Hereditary Progressive Chorea Without Dementia,Paroxysmal Dyskinesias,Rheumatic Chorea,Senile Chorea,St. Vitus's Dance,Sydenham Chorea,Sydenham's Chorea,Benign Hereditary Chorea,Benign Hereditary Choreas,Chorea Disorder,Chorea Syndrome,Chorea, Hereditary,Chorea, Sydenham's,Choreas,Choreas, Benign Hereditary,Choreas, Chronic Progressive,Choreas, Hereditary,Choreas, Rheumatic,Choreas, Senile,Choreas, Sydenham,Choreatic Disorder,Choreatic Syndrome,Choreic Movements,Choreiform Movements,Chronic Progressive Chorea,Chronic Progressive Choreas,Disorder, Chorea,Disorder, Choreatic,Disorders, Chorea,Disorders, Choreatic,Dyskinesia, Paroxysmal,Hereditary Chorea, Benign,Hereditary Choreas,Hereditary Choreas, Benign,Movement, Choreic,Movement, Choreiform,Movements, Choreic,Movements, Choreiform,Paroxysmal Dyskinesia,Progressive Chorea, Chronic,Progressive Choreas, Chronic,Rheumatic Choreas,Senile Choreas,St. Vitus Dance,St. Vitus's Dances,St. Vituss Dance,Sydenham Choreas,Sydenhams Chorea,Syndrome, Chorea,Syndrome, Choreatic,Syndromes, Chorea,Syndromes, Choreatic
D005260 Female Females
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006115 Greece A country in southern Europe, bordering the Aegean Sea, Ionian Sea, and the Mediterranean Sea, between Albania and Turkey. The capital is Athens. Crete,Macedonia (Greece)
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype

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