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Case Reports
. 2003 Aug;54(2):244-7.
doi: 10.1002/ana.10637.

Benign hereditary chorea: clinical, genetic, and pathological findings

Galit Kleiner-Fisman  1 , Ekaterina Rogaeva, William Halliday, Sylvain Houle, Toshitaka Kawarai, Christine Sato, Helena Medeiros, Peter H St George-Hyslop, Anthony E Lang
Affiliations
Case Reports

Benign hereditary chorea: clinical, genetic, and pathological findings

Galit Kleiner-Fisman et al. Ann Neurol. 2003 Aug.

Abstract

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.

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