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Benign hereditary chorea: Clinical, genetic, and pathological findings
Author(s) -
KleinerFisman Galit,
Rogaeva Ekaterina,
Halliday William,
Houle Sylvain,
Kawarai Toshitaka,
Sato Christine,
Medeiros Helena,
St. GeorgeHyslop Peter H.,
Lang Anthony E.
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10637
Subject(s) - chorea , pathological , dementia , medicine , pathology , genetics , pediatrics , biology , disease
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