ADCY5 Mutations and Benign Hereditary Chorea

J. Gordon Millichap

doi:10.15844/pedneurbriefs-29-9-5

ADCY5 Mutations and Benign Hereditary Chorea

Pediatric Neurology Briefs

Volume 29 (2015): Issue 9

By: J. Gordon Millichap

Open Access

|Oct 2015

Abstract

Investigators from the Institute of Neurology, London, UK, and centers in Italy, Germany, and Greece, studied 18 unrelated cases of benign hereditary chorea BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations.

References

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Peall KJ Lumsden D Kneen R Madhu R Peake D Gibbon F Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum Dev Med Child Neurol 2014 Jul 56 7 642 648 10.1111/dmcn.12323 24171694
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Peall KJ Kurian MA Benign hereditary chorea: an update Tremor Other Hyperkinet Mov (N Y) 2015 5 314 10.7916/D8RJ4HM5 26196025
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Gras D Jonard L Roze E Koht J Motte J Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene J Neurol Neurosurg Psychiatry 2012 Oct 83 10 956 962 10.1136/jnnp-2012-302505 22832740
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-29-9-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 70 - 70

Submitted on: Oct 1, 2015

Accepted on: Oct 8, 2015

Published on: Oct 11, 2015

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Hereditary Chorea,

Genes,

Mutation Analysis

© 2015 J. Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 29 (2015): Issue 9