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Benign hereditary chorea related to NKX2-1 with ataxia and dystonia.

ABSTRACT: Benign hereditary chorea (BHC) was originally described in 1967, but it was not until 2002 that linkage analysis and positional cloning identified the causative gene, NKX2-1 (also known as TTF-1).(1,2) The range of manifestations spans from isolated chorea, pulmonary disease, or thyroid dysfunction, with one-third of patients having the full brain-lung-thyroid syndrome.(3) Recent reports have expanded the NKX2-1 phenotype, as patients may present with additional movement disorders such as dystonia and myoclonus.(3) We present a case with early-onset chorea, ataxia, and dystonia.

SUBMITTER: de Gusmao CM

PROVIDER: S-EPMC4817908 | biostudies-other | 2016 Feb

REPOSITORIES: biostudies-other

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Benign hereditary chorea related to NKX2-1 with ataxia and dystonia.

de Gusmao Claudio M CM Kok Fernando F Casella Erasmo Barbante EB Waugh Jeff L JL

Neurology. Genetics 20151222 1

Benign hereditary chorea (BHC) was originally described in 1967, but it was not until 2002 that linkage analysis and positional cloning identified the causative gene, NKX2-1 (also known as TTF-1).(1,2) The range of manifestations spans from isolated chorea, pulmonary disease, or thyroid dysfunction, with one-third of patients having the full brain-lung-thyroid syndrome.(3) Recent reports have expanded the NKX2-1 phenotype, as patients may present with additional movement disorders such as dyston ...[more]

PMID: 27066577

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ADCY5 mutations are another cause of benign hereditary chorea.

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