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Copyright V. Ventruto / A. Di Luccio Genus database 5550 Huntington disease Eponyms: Inheritance: HD Huntington chorea IT15 autosomal dominant genomic imprinting Semeiological Neurological disorder, isolated defect. Progressive choreic movements, usually 30-40 years onset, dementia, appearing indipendently of the movements disorders, first manifestations may be paranoia, emotional Synthesis: instability. Potentially paternal imprinting in juvenile form. Prevalence: more than 1 in 20,000 live births. Anticipation in paternal transmission. Group Sub group Signs: LABORATORY DATA chromosomal assignment chromosome 4p localization gene, structural-functional anomalies gene analysis-DNA analysis HD (IT15) Huntington, gene chr.4p16.3 human polymorphisms trinucleotide repeat disorders, triplet repeat disorders, expanded unstable trinucleotide, trinucleotide expansion inside the gene tissue, biochemical changes dihydrofolate reductase deficiency NEUROLOGICAL DISORDERS basal ganglia, disorders dystonia behaviour, changes dysarthria personality changes brain anomalies basal ganglia, degenerative disorders not including: calcification (calcinosis) neurological dysfunctions choreoathetosis, coordination disorders, apraxia/dyspraxia not including: ocular isolated neurologic disorders seizures, convulsions, epilepsy performance changes, not including mental retardation dementia OTHERS inheritance inheritance, anticipation, earlier age of onset inheritance, autosomal dominant inheritance, genomic imprinting PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: ISOLATED NEUROLOGICAL DISORDERS isolated neurological disorders OTHER anticipation, earlier age of onset trinucleotide repeat disorders Huntington disease Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database Differential diagnosis: Bibliography Huntington disease 5540 5530 5555 28541 9998 28804 7671 23360 23409 25640 5557 25795 chorea hereditary, benign chorea-acanthocytosis syndrome choreoathetosis inverted Huntington disease-like 1 Huntington disease-like 2 neuroacanthocytosis neuroferritinopathy Schimke-Horton syndrome schizophrenia-1 torsion dystonia 1 torsion dystonia 8 tremor essential OMIM ID: 143100 Prenat.Diagn.19,450-457,1999 Thompson&Thompson: Genetica in Medicina. Idelson-Gnocchi Ed. 2005, pag.l Peter S.Harper: Practical Genetic Counselling. 6th Ed. 2004 pag. 174-179 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 421 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.27142721,2007 Page 2 of 2
