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Benign hereditary chorea: Clinical, genetic, and pathological findings

✍ Scribed by Galit Kleiner-Fisman; Ekaterina Rogaeva; William Halliday; Sylvain Houle; Toshitaka Kawarai; Christine Sato; Helena Medeiros; Peter H. St. George-Hyslop; Anthony E. Lang

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
390 KB
Volume
54
Category
Article
ISSN
0364-5134

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✦ Synopsis

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. Ann Neurol 2003

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