| Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome. | |
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MedLine Citation:
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PMID: 22166853 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Mutations in NKX2-1 cause neurological, pulmonary, and thyroid hormone impairment. Recently, the disease was named brain-lung-thyroid syndrome. Here, we report three patients with brain-lung-thyroid syndrome. All patients were unable to walk until 24months of age, and still have a staggering gait, without mental retardation. They have also had choreoathetosis since early infancy. Genetic analysis of NKX2-1 revealed a novel missense mutation (p.Val205Phe) in two patients who were cousins and their maternal families, and a novel 2.6-Mb deletion including NKX2-1 on chromosome 14 in the other patient. Congenital hypothyroidism was not detected on neonatal screening in the patient with the missense mutation, and frequent respiratory infections were observed in the patient with the deletion in NKX2-1. Oral levodopa did not improve the gait disturbance or involuntary movement. The results of (99m)Tc-ECD single-photon emission computed tomography (ECD-SPECT) analyzed using the easy Z-score imaging system showed decreased cerebral blood flow in the bilateral basal ganglia, especially in the caudate nuclei, in all three patients, but no brain magnetic resonance imaging (MRI) abnormalities. These brain nuclear image findings indicate that NKX2-1 haploinsufficiency causes dysfunction of the basal ganglia, especially the caudate nuclei, resulting in choreoathetosis and gait disturbance in this disease. |
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Authors:
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Mitsugu Uematsu; Kazuhiro Haginoya; Atsuo Kikuchi; Tojo Nakayama; Yousuke Kakisaka; Yurika Numata; Tomoko Kobayashi; Naomi Hino-Fukuyo; Ikuma Fujiwara; Shigeo Kure |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-12 |
Journal Detail:
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Title: Journal of the neurological sciences Volume: - ISSN: 1878-5883 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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