Differential diagnosis of Huntington’s disease− neurological aspects of NKX2-1-related disorders

Armstrong MJ, Shah BB, Chen R, Angel MJ, Lang AE (2011) Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. Mov Disord 26(12):2296–2297. https://doi.org/10.1002/mds.23822

Article  PubMed  Google Scholar 

Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Schöning M, Gasser T (2005) A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology 64(11):1952–1954. https://doi.org/10.1212/01.Wnl.0000164000.75046.Cc

Article  CAS  PubMed  Google Scholar 

Asmus F, Devlin A, Munz M, Zimprich A, Gasser T, Chinnery PF (2007) Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. Mov Disord 22(14):2104–2109. https://doi.org/10.1002/mds.21692

Article  PubMed  Google Scholar 

Balicza P, Grosz Z, Molnár V, Illés A, Csabán D, Gézsi A, Dézsi L, Zádori D, Vécsei L, Molnár MJ (2018) NKX2-1 New Mutation Associated with Myoclonus, Dystonia, and Pituitary involvement. Front Genet 9:335. https://doi.org/10.3389/fgene.2018.00335

Article  CAS  PubMed  PubMed Central  Google Scholar 

Basu MR, Espay AJ, Wakefield EG, Wu SW (2018) Clinical reasoning: importance of clinical phenomenology in the era of genetic testing. Neurology 90(6):e534–e537. https://doi.org/10.1212/wnl.0000000000004930

Article  PubMed  Google Scholar 

Blumkin L, Lerman-Sagie T, Westenberger A, Ben-Pazi H, Zerem A, Yosovich K, Lev D (2018) Multiple causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach. Neuropediatrics 49(4):246–255. https://doi.org/10.1055/s-0038-1645884

Article  PubMed  Google Scholar 

Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Grüters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P (2002) Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 11(8):971–979. https://doi.org/10.1093/hmg/11.8.971

Article  CAS  PubMed  Google Scholar 

Butt SJ, Sousa VH, Fuccillo MV, Hjerling-Leffler J, Miyoshi G, Kimura S, Fishell G (2008) The requirement of Nkx2-1 in the temporal specification of cortical interneuron subtypes. Neuron 59(5):722–732. https://doi.org/10.1016/j.neuron.2008.07.031

Article  CAS  PubMed  PubMed Central  Google Scholar 

Carré 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, Léger 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(12):2266–2276. https://doi.org/10.1093/hmg/ddp162

Article  CAS  PubMed  Google Scholar 

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(4):209–215. https://doi.org/10.1007/s10048-005-0013-1

Article  CAS  PubMed  Google Scholar 

de Gusmao CM, Kok F, Casella EB, Waugh JL (2016) Benign hereditary chorea related to NKX2-1 with ataxia and dystonia. Neurol Genet 2(1):e40. https://doi.org/10.1212/nxg.0000000000000040

Article  PubMed  Google Scholar 

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(2):190–193. https://doi.org/10.1016/j.jpeds.2004.04.011

Article  CAS  PubMed  Google Scholar 

Farrenburg M, Gupta HV (2020) Levodopa-Responsive Chorea: a review. Ann Indian Acad Neurol 23(2):211–214. https://doi.org/10.4103/aian.AIAN_221_19

Article  PubMed  PubMed Central  Google Scholar 

Fernandez M, Raskind W, Matsushita M, Wolff J, Lipe H, Bird T (2001) Hereditary benign chorea: clinical and genetic features of a distinct disease. Neurology 57(1):106–110. https://doi.org/10.1212/wnl.57.1.106

Article  CAS  PubMed  Google Scholar 

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(9):1005–1009. https://doi.org/10.1089/thy.2008.0085

Article  CAS  PubMed  Google Scholar 

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(1):68–73. https://doi.org/10.1177/0883073811413584

Article  PubMed  Google Scholar 

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(3):255–257. https://doi.org/10.1016/j.braindev.2011.04.007

Article  PubMed  Google Scholar 

Gauquelin L, Tran LT, Chouinard S, Bernard G (2017) The Movement disorder of brain-lung-thyroid syndrome can be responsive to Methylphenidate. Tremor Other Hyperkinet Mov (N Y) 7:508. https://doi.org/10.7916/d84x5m9z

Article  PubMed  Google Scholar 

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(12):1744–1747. https://doi.org/10.1002/mds.22215

Article  PubMed  Google Scholar 

Gonçalves D, Lourenço L, Guardiano M, Castro-Correia C, Sampaio M, Leão M (2019) Chiari Malformation Type I in a patient with a Novel NKX2-1 mutation. J Pediatr Neurosci 14(3):169–172. https://doi.org/10.4103/jpn.JPN_108_18

Article  PubMed  PubMed Central  Google Scholar 

Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, de Billette T, Vidailhet M, Doummar D (2012) 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 83(10):956–962. https://doi.org/10.1136/jnnp-2012-302505

Article  PubMed  Google Scholar 

Graziola F, Garone G, Grasso M, Schirinzi T, Capuano A (2021) Working memory, attention and planning abilities in NKX2.1-related chorea. Parkinsonism Relat Disord 88:24–27. https://doi.org/10.1016/j.parkreldis.2021.05.021

Article  PubMed  Google Scholar 

Guan L, Zhao X, Tang L, Chen J, Zhao J, Guo M, Chen C, Zhou Y, Xu L (2021) Thyroid transcription Factor-1: structure, expression, function and its relationship with Disease. Biomed Res Int 2021(9957209). https://doi.org/10.1155/2021/9957209

Ikeda K, Shaw-White JR, Wert SE, Whitsett JA (1996) Hepatocyte nuclear factor 3 activates transcription of thyroid transcription factor 1 in respiratory epithelial cells. Mol Cell Biol 16(7):3626–3636. https://doi.org/10.1128/MCB.16.7.3626

Article  CAS  PubMed  PubMed Central  Google Scholar 

Iodice A, Carecchio M, Zorzi G, Garavaglia B, Spagnoli C, Salerno GG, Frattini D, Mencacci NE, Invernizzi F, Veneziano L, Mantuano E, Angriman M, Fusco C (2019) Restless legs syndrome in NKX2-1-related chorea: an expansion of the disease spectrum. Brain Dev 41(3):250–256. https://doi.org/10.1016/j.braindev.2018.10.001

Article  CAS  PubMed  Google Scholar 

Kawano H, Horie M, Honma S, Kawamura K, Takeuchi K, Kimura S (2003) Aberrant trajectory of ascending dopaminergic pathway in mice lacking Nkx2.1. Exp Neurol 182(1):103–112. https://doi.org/10.1016/s0014-4886(03)00030-x

Article  CAS  PubMed  Google Scholar 

Kleiner-Fisman G (2011) Chap. 12 - benign hereditary chorea. In: Weiner WJ, Tolosa E (eds) Handbook of clinical neurology, vol 100. Elsevier, pp 199–212. doi:https://doi.org/10.1016/B978-0-444-52014-2.00012-4

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(2):244–247. https://doi.org/10.1002/ana.10637

Article  CAS  PubMed  Google Scholar 

Koht J, Løstegaard SO, Wedding I, Vidailhet M, Louha M, Tallaksen CM (2016) Benign hereditary chorea, not only chorea: a family case presentation. Cerebellum Ataxias 3:3. https://doi.org/10.1186/s40673-016-0041-7

Article 

Comments (0)

No login
gif