Benign hereditary chorea: clinical, genetic, and pathological findings.
Benign hereditary chorea is an autosomal dominant disorder presenting with childhood-onset chorea, no dementia, and little or no progression. We present a family with typical clinical features of benign hereditary chorea. Pathological investigation of the brain of an affected family member who died of an unrelated condition showed no significant gross or histological abnormalities. Genetic evaluation showed a novel single nucleotide substitution of intron 2 of the TITF-1 gene (also referred to as TTF, NKX2.1, and T/ebp) on chromosome 14 which is predicted to have drastic consequences on the maturation processes of TITF-1.
Kleiner-Fisman
Galit
G
Division of Neurology, Toronto Western Hospital, Ontario, Canada.
Rogaeva
Ekaterina
E
Halliday
William
W
Houle
Sylvain
S
Kawarai
Toshitaka
T
Sato
Christine
C
Medeiros
Helena
H
St  George-Hyslop
Peter H
PH
Lang
Anthony E
AE
D019943:Amino Acid Substitution; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002819:Chorea / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008875:Middle Aged; D014055:Tomography, Emission-Computed
D004247:DNA