2024-03-29T14:12:01Z
https://soar-ir.repo.nii.ac.jp/oai
oai:soar-ir.repo.nii.ac.jp:00008074
2022-12-14T04:00:49Z
882:883
A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea
Nakamura, Katsuya
Sekijima, Yoshiki
Nagamatsu, Kiyoshiro
Yoshida, Kunihiro
Ikeda, Shu-ichi
Benign hereditary chorea (BHC)
Brain-Thyroid-Lung syndrome
Thyroid transcription factor-1 (TITF-1)
Chorea
Hypothyroidism
Nkx2.1
A Japanese family with a novel nonsense mutation in the TITF-1 gene (p.Y98X) is described. The proband showed severe generalized chorea, delayed motor development, subnormal intelligence, congenital hypothyroidism, bronchial asthma, and a history of pulmonary infection, all of which are characteristic features of Brain-Thyroid-Lung syndrome. On the other hand, her brother and mother showed a mild benign hereditary chorea (BHC) phenotype with congenital hypothyroidism. Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. Although choreic movement in BHC/Brain-Thyroid-Lung syndrome is recognized as non-progressive, the proband showed re-exacerbation of choreic movement at puberty. The dopamine agonist, ropinirole hydrochloride, reduced her choreic movements, suggesting that levodopa and/or dopamine agonists may compensate for underdeveloped dopaminergic pathways in this disorder.
Article
JOURNAL OF THE NEUROLOGICAL SCIENCES. 313(1-2):189-192 (2012)
journal article
ELSEVIER SCIENCE BV
2012-02-15
application/pdf
JOURNAL OF THE NEUROLOGICAL SCIENCES
1-2
313
189
192
0022-510X
AA00703265
https://soar-ir.repo.nii.ac.jp/record/8074/files/A_novel_nonsense_mutation_TITF-1_gene_Japanese_family.pdf
eng
21982616
https://pubmed.ncbi.nlm.nih.gov/21982616
10.1016/j.jns.2011.09.013
https://doi.org/10.1016/j.jns.2011.09.013
Copyright© 2011 Elsevier B.V.