Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome

Journal of the Neurological Sciences

Volumn 315, Issue 1-2, 2012, Pages 77-81

  Uematsu, Mitsugu ^a   Haginoya, Kazuhiro ^b   Kikuchi, Atsuo ^a   Nakayama, Tojo ^a   Kakisaka, Yousuke ^a   Numata, Yurika ^a   Kobayashi, Tomoko ^a   Hino Fukuyo, Naomi ^a   Fujiwara, Ikuma ^a   Kure, Shigeo ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Takuto Rehabilitation Center for Children   (Japan)

Author keywords

Array CGH; Brain lung thyroid syndrome; ECD SPECT; eZIS; NKX2 1

Indexed keywords

LEVODOPA; NKX2 1 PROTEIN; PHENYLALANINE; TECHNETIUM 99M; TRANSCRIPTION FACTOR NKX2.2; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; BASAL GANGLION; BRAIN BLOOD FLOW; BRAIN LUNG THYROID SYNDROME; BRAIN PERFUSION; CAUDATE NUCLEUS; CHILD; CHOREOATHETOSIS; CHROMOSOME 14; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FEMALE; GAIT DISORDER; GENE DELETION; GENETIC ANALYSIS; HAPLOINSUFFICIENCY; HUMAN; INFANCY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHOTON EMISSION TOMOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RELATIVE; RESPIRATORY TRACT INFECTION; SCHOOL CHILD; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; WALKING DIFFICULTY;

CAUDATE NUCLEUS; CHILD; CHILD, PRESCHOOL; FEMALE; GAIT DISORDERS, NEUROLOGIC; HAPLOINSUFFICIENCY; HUMANS; HYPOTHYROIDISM; LUNG DISEASES; MALE; NERVOUS SYSTEM DISEASES; NUCLEAR PROTEINS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 84857998508     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.11.025     Document Type: Article

References (33)

1. Hamdan H, Liu H, Li C, Jones C, Lee M, deLemos R, et al. Structure of the human Nkx2.1 gene. Biochim Biophys Acta 1998;1396:336-48. (Pubitemid 28150170)
2. Ikeda K, Clark JC, Shaw-White JR, Stahlman MT, Boutell CJ, Whitsett JA. Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells. J Biol Chem 1995;270:8108-14.
3. Lazzaro D, Price M, de Felice M, Di Lauro R. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991;113:1093-104.
4. Kimura S, Hara Y, Pineau T, Fernandez-Salguero P, Fox CH,Ward JM, et al. The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 1996;10:60-9. (Pubitemid 26025299)
5. Puelles L, Kuwana E, Puelles E, Bulfone A, Shimamura K, Keleher J, et al. Pallial and subpallial derivatives in the embryonic chick and mouse telencephalon, traced by the expression of the genes Dlx-2, Emx-1, Nkx-2.1, Pax-6, and Tbr-1. J Comp Neurol 2000;424:409-38. (Pubitemid 30670442)
6. Acebron A, Aza-Blanc P, Rossi DL, Lamas L, Santisteban P. Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1. J Clin Invest 1995;96:781-5.
7. Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002;11:971-9. (Pubitemid 34449784)
8. Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002;109:475-80. (Pubitemid 34171778)
9. BreedveldGJ, Percy AK,MacDonaldME, de Vries BB, Yapijakis C,Dure LS, et al. Clinical and genetic heterogeneity in benign hereditary chorea. Neurology 2002;59:579-84. (Pubitemid 34919993)
10. Willemsen MA, Breedveld GJ,Wouda S, Otten BJ, Yntema JL, Lammens M, et al. Brain-thyroid-lung syndrome: a patient with a severe multi-system disorder due to a de novomutation in the thyroid transcription factor 1 gene. Eur J Pediatr 2005;164:28-30. (Pubitemid 40110004)
11. Kleiner-Fisman G, Lang AE. Benign hereditary chorea revisited: a journey to understanding. Mov Disord 2007;22:2297-305 [quiz 452]. (Pubitemid 351155973)
12. Carre A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, et al. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 2009;18:2266-76.
13. Inzelberg R,WeinbergerM, Gak E. Benign hereditary chorea: an update. Parkinsonism Relat Disord 2011;17:301-7.
14. Carmo Costa M, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, et al. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics 2005;6:209-15. (Pubitemid 41720893)
15. Salvatore E, Di Maio L, Filla A, Ferrara AM, Rinaldi C, Sacca F, et al. Benign hereditary chorea: clinical and neuroimaging features in an Italian family. Mov Disord 2010;25: 1491-6.
16. Butt SJB, Sousa VH, Fuccillo MV, Hjerling-Leffler J, Miyoshi G, Kimura S, et al. The requirement of Nkx2-1 in the temporal specification of cortical interneuron subtypes. Neuron 2008;59:722-32.
17. Trueba SS. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metabol 2004;90:455-62. (Pubitemid 40116694)
18. Maeda Y, Davé V, Whitsett J. Transcriptional control of lung morphogenesis. Physiol Rev 2007;87:219-44. (Pubitemid 46207714)
19. Guillot L, Carré A, Szinnai G, Castanet M, Tron E, Jaubert F, et al. NKX2-1mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome". Hum Mutat 2010;31:E1146-62.
20. Glik A, Vuillaume I, Devos D, Inzelberg R. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. Mov Disord 2008;23:1744-7.
21. Sussel L, Marin O, Kimura S, Rubenstein JL. Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum. Development 1999;126:3359-70. (Pubitemid 29396776)
22. Flandin P, Kimura S, Rubenstein JLR. The progenitor zone of the ventral medial ganglionic eminence requires Nkx2-1 to generate most of the globus pallidus but few neocortical interneurons. J Neurosci 2010;30:2812-23.
23. Mahajnah M, Inbar D, Steinmetz A, Heutink P, Breedveld GJ, Straussberg R. Benign hereditary chorea: clinical, neuroimaging, and genetic findings. J Child Neurol 2007;22:1231-4.
24. Kanetaka H, Matsuda H, Asada T, Ohnishi T, Yamashita F, Imabayashi E, et al. Effects of partial volume correction on discrimination between very early Alzheimer's dementia and controls using brain perfusion SPECT. Eur JNuclMedMol Imaging 2004;31:975-80. (Pubitemid 38915653)
25. Montanelli L, Tonacchera M. Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations. Mol Cell Endocrinol 2010;322: 64-71.
26. Matsuda H, Mizumura S, Nagao T, Ota T, Iizuka T, Nemoto K, et al. Automated discrimination between very early Alzheimer disease and controls using an easy Z-score imaging system for multicenter brain perfusion single-photon emission tomography. AJNR Am J Neuroradiol 2007;28:731-6. (Pubitemid 46608616)
27. Imamura K, Wada-Isoe K, Kowa H, Tanabe Y, Nakashima K. The effect of donepezil on increased regional cerebral blood flow in the posterior cingulate cortex of a patient with Parkinson's disease dementia. Neurocase 2008;14:271-5.
28. Sasaki M, Nakagawa E, Sugai K, Shimizu Y, Hattori A, Nonoda Y, et al. Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy. Brain Dev 2010;32:776-82.
29. Magno L, Catanzariti V, Nitsch R, Krude H, Naumann T. Ongoing expression of Nkx2.1 in the postnatal mouse forebrain: potential for understanding NKX2.1 haploinsufficiency in humans? Brain Res 2009;1304:164-86.
30. Hasselbalch SG, Oberg G, Sorensen SA, Andersen AR, Waldemar G, Schmidt JF, et al. Reduced regional cerebral blood flow in Huntington's disease studied by SPECT. J Neurol Neurosurg Psychiatry 1992;55:1018-23.
31. Reynolds Jr NC, Hellman RS, Tikofsky RS, Prost RW, Mark LP, Elejalde BR, et al. Single photon emission computerized tomography (SPECT) in detecting neurodegeneration in Huntington's disease. Nucl Med Commun 2002;23:13-8. (Pubitemid 34214302)
32. Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, et al. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology 2005;64:1952-4. (Pubitemid 40800715)
33. Kang GA, Heath S, Rothlind J, Starr PA. Long-term follow-up of pallidal deep brain stimulation in two cases of Huntington's disease. J Neurol Neurosurg Psychiatry 2010;82:272-7.