Benign hereditary chorea: Dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation

Journal of Neurology

Volumn 260, Issue 1, 2013, Pages 207-213

  Konishi, Takashi ^a   Kono, Satoshi ^a   Fujimoto, Masaya ^b   Terada, Tatsuhiro ^a   Matsushita, Kozo ^b   Ouchi, Yasuomi ^a   Miyajima, Hiroaki ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Iwata City Hospital   (Japan)

Author keywords

Benign hereditary chorea; Dopamine; Levodopa; Mutation; NKX2.1; PET; TITF 1

Indexed keywords

CARBON 11; DOPAMINE TRANSPORTER; GENOMIC DNA; HALOPERIDOL; LEVODOPA; PRESYNAPTIC RECEPTOR; RACLOPRIDE C 11;

ADULT; ARTICLE; BASAL GANGLION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DOPAMINERGIC SYSTEM; DRUG DOSE INCREASE; DRUG DOSE TITRATION; DRUG RECEPTOR BINDING; DRUG TREATMENT FAILURE; DRUG WITHDRAWAL; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GOITER; HUMAN; HUNTINGTON CHOREA; INVOLUNTARY MOVEMENT; MALE; MOLECULAR IMAGING; NAUSEA; NEUROIMAGING; NKX2.1 GENE; PATHOPHYSIOLOGY; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; TREATMENT RESPONSE;

ADULT; BRAIN; BRAIN MAPPING; CHOREA; COCAINE; DNA MUTATIONAL ANALYSIS; DOPAMINE; DOPAMINE ANTAGONISTS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; POSITRON-EMISSION TOMOGRAPHY; RACLOPRIDE; TRANSCRIPTION FACTORS;

EID: 84872357279     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6618-z     Document Type: Article

References (44)

1. Aizman O, Brismar H, Uhlen P, Zettergren E, Levey AI, Forssberg H, Greengard P, Aperia A (2000) Anatomical and physiological evidence for D1 and D2 dopamine receptor colocalization in neostriatal neurons. Nat Neurosci 3:226-230
2. Antonini A, Leenders KL, Eidelberg D (1998) [11C]raclopride-PET studies of the Huntington's disease rate of progression: relevance of the trinucleotide repeat length. Ann Neurol 43:253-255
3. Antonini A, Leenders KL, Spiegel R, Meier D, Vontobel P, Weigell-Weber M, Sanchez-Pernaute R, de Yebenez JG, Boesiger P, Weindl A, Maguire RP (1996) Striatal glucose metabolism and dopamine D2 receptor binding in asymptomatic gene carriers and patients with Huntington's disease. Brain 119:2085-2095
4. Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Schoning M, Gasser T (2005) A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology 64:1952-1954
5. Breedveld GJ (2002) Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 11:971-979
6. Buratti E, Chivers M, Kralovicova J, Romano M, Baralle M, Krainer AR, Vorechovsky I (2007) Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res 35:4250-4263
7. Carre A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Leger J, Polak M (2009) Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 18:2266-2276
8. Costa MC, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P (2005) Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics 6:209-215
9. Davis RL, Homer VM, George PM, Brennan SO (2009) A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum Mutat 30:221-227
10. Deng YP, Albin RL, Penney JB, Young AB, Anderson KD, Reiner A (2004) Differential loss of striatal projection systems in Huntington's disease: a quantitative immunohistochemical study. J Chem Neuroanat 27:143-164
11. Devos D, Vuillaume I, de Becdelievre A, de Martinville B, Dhaenens CM, Cuvellier JC, Cuisset JM, Vallee L, Lemaitre MP, Bourteel H, Hachulla E, Wallaert B, Destee A, Defebvre L, Sablonniere B (2006) New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. Mov Disord 21:2237-2240
12. Devriendt K, Vanhole C, Matthijs G, de Zegher F (1998) Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 338:1317-1318
13. Doyle DA, Gonzalez I, Thomas B, Scavina M (2004) Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr 145:190-193
14. Ferrara AM, De Michele G, Salvatore E, Di Maio L, Zampella E, Capuano S, Del Prete G, Rossi G, Fenzi G, Filla A, Macchia PE (2008) A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid 18:1005-1009
15. Ferrara JM, Adam OR, Kirwin SM, Houghton DJ, Shepherd C, Vinette KM, Litvan I (2012) Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutation. J Child Neurol 27:68-73
16. Fons C, Rizzu P, Garcia-Cazorla A, Martorell L, Ormazabal A, Artuch R, Campistol J, Fernandez-Alvarez E (2012) TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment. Brain Dev 34:255-257
17. Glass M, Dragunow M, Faull RL (2000) The pattern of neurodegeneration in Huntington's disease: a comparative study of cannabinoid, dopamine, adenosine and GABA(A) receptor alterations in the human basal ganglia in Huntington's disease. Neuroscience 97:505-519
18. Glik A, Vuillaume I, Devos D, Inzelberg R (2008) Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. Mov Disord 23:1744-1747
19. Guillot L, Carre A, Szinnai G, Castanet M, Tron E, Jaubert F, Broutin I, Counil F, Feldmann D, Clement A, Polak M, Epaud R (2010) NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "brain-lung-thyroid syndrome". Hum Mutat 31:E1146-E1162
20. Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T (2000) Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 137:272-276
21. Kapur S, Zipursky R, Roy P, Jones C, Remington G, Reed K, Houle S (1997) The relationship between D2 receptor occupancy and plasma levels on low dose oral haloperidol: a PET study. Psychopharmacology 131:148-152
22. Kimura S, Hara Y, Pineau T, Fernandez-Salguero P, Fox CH, Ward JM, Gonzalez FJ (1996) 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 10:60-69
23. Kleiner-Fisman G, Calingasan NY, Putt M, Chen J, Beal MF, Lang AE (2005) Alterations of striatal neurons in benign hereditary chorea. Mov Disord 20:1353-1357
24. Kleiner-Fisman G, Rogaeva E, Halliday W, Houle S, Kawarai T, Sato C, Medeiros H, St George-Hyslop PH, Lang AE (2003) Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol 54:244-247
25. Kono S, Ouchi Y, Terada T, Ida H, Suzuki M, Miyajima H (2010) Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism. Mov Disord 25:1823-1829
26. Krude H, Schutz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tonnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Gruters A (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 109:475-480
27. Maquet E, Costagliola S, Parma J, Christophe-Hobertus C, Oligny LL, Fournet JC, Robitaille Y, Vuissoz JM, Payot A, Laberge S, Vassart G, Van Vliet G, Deladoey J (2009) Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. J Clin Endocrinol Metab 94:197-203
28. Moya CM, Perez de Nanclares G, Castano L, Potau N, Bilbao JR, Carrascosa A, Bargada M, Coya R, Martul P, Vicens-Calvet E, Santisteban P (2006) Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. J Clin Endocrinol Metab 91:1832-1841
29. Nagasaki K, Narumi S, Asami T, Kikuchi T, Hasegawa T, Uchiyama M (2008) Mutation of a gene for thyroid transcription factor-1 (TITF1) in a patient with clinical features of resistance to thyrotropin. Endocr J 55:875-878
30. Nakamura K, Sekijima Y, Nagamatsu K, Yoshida K, Ikeda S (2012) A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea. J Neurol Sci 313:189-192
31. Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T (2010) Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab 95:1981-1985
32. Ouchi Y, Nobezawa S, Okada H, Yoshikawa E, Futatsubashi M, Kaneko M (1998) Altered glucose metabolism in the hippocampal head in memory impairment. Neurology 51:136-142
33. Pleasure SJ, Anderson S, Hevner R, Bagri A, Marin O, Lowenstein DH, Rubenstein JL (2000) Cell migration from the ganglionic eminences is required for the development of hippocampal GABAergic interneurons. Neuron 28:727-740
34. Pohlenz J (2002) Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 109:469-473
35. Provenzano C, Veneziano L, Appleton R, Frontali M, Civitareale D (2008) Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. J Neurol Sci 264:56-62
36. Reiner A, Albin RL, Anderson KD, D'Amato CJ, Penney JB, Young AB (1988) Differential loss of striatal projection neurons in Huntington disease. Proc Natl Acad Sci USA 85:5733-5737
37. Rincon A, Aguado C, Desviat LR, Sanchez-Alcudia R, Ugarte M, Perez B (2007) Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Am J Hum Genet 81:1262-1270
38. Roca X, Olson AJ, Rao AR, Enerly E, Kristensen VN, Borresen-Dale AL, Andresen BS, Krainer AR, Sachidanandam R (2008) Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics. Genome Res 18:77-87
39. Salvatore E, Di Maio L, Filla A, Ferrara AM, Rinaldi C, Sacca F, Peluso S, Macchia PE, Pappata S, De Michele G (2010) Benign hereditary chorea: clinical and neuroimaging features in an Italian family. Mov Disord 25:1491-1496
40. Sussel L, Marin O, Kimura S, Rubenstein JL (1999) 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 126:3359-3370
41. Takuma N, Sheng HZ, Furuta Y, Ward JM, Sharma K, Hogan BL, Pfaff SL, Westphal H, Kimura S, Mahon KA (1998) Formation of Rathke's pouch requires dual induction from the diencephalon. Development 125:4835-4840
42. Uematsu M, Haginoya K, Kikuchi A, Nakayama T, Kakisaka Y, Numata Y, Kobayashi T, Hino-Fukuyo N, Fujiwara I, Kure S (2012) Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome. J Neurol Sci 315:77-81
43. van Oostrom JC, Maguire RP, Verschuuren-Bemelmans CC, Veenma-van der Duin L, Pruim J, Roos RA, Leenders KL (2005) Striatal dopamine D2 receptors, metabolism, and volume in preclinical Huntington disease. Neurology 65:941-943
44. Willemsen MA, Breedveld GJ, Wouda S, Otten BJ, Yntema JL, Lammens M, de Vries BB (2005) Brain-thyroid-lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr 164:28-30