title: Benign hereditary chorea, not only chorea: a family case presentation.
abstract: BACKGROUND
  Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are frequent additional features. The disorder is caused by mutations of the NKX2-1 gene on chromosome 14.
  
  
  METHODS
  A Norwegian four-generation family with eight affected was identified. All family members had an early onset movement disorder, starting before one year of age with motor delay and chorea. Learning difficulties were commonly reported from early school years. The family presented with choreic movements at rest, but other movements were seen; myoclonus, dystonia, ataxia, stuttering and tics-like movements. All patients reported unsteadiness and ataxic gait was observed in two patients. Videos are provided in the supplementary material. Most affected family members had asthma and a subclinical or clinical hypothyroidism. Sequencing revealed a mutation in the NKX2-1 gene in all eight affected family members.
  
  
  CONCLUSIONS
  This is the first Norwegian family with benign hereditary chorea due to a mutation in the NKX2-1 gene, c.671 T > G (p.Leu224Arg). This family demonstrates well the wide phenotype, including dystonia, myoclonus and ataxia.
authors.affiliation: Department of Neurology, Drammen Hospital, Vestre Viken Health Trust, Drammen, Norway.
authors.forename: Jeanette
authors.initials: J
authors.lastname: Koht
authors.affiliation: Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
authors.forename: Sven Olav
authors.initials: SO
authors.lastname: Løstegaard
authors.affiliation: Institute of Clinical Medicine, University of Oslo, Oslo, Norway ; Department of Neurology, Oslo University Hospital, Ullevål, Oslo, Norway.
authors.forename: Iselin
authors.initials: I
authors.lastname: Wedding
authors.affiliation: Department of Neurology, Salpêtrière Hospital, APHP, Sorbonne Universités, UPMC Univ Paris 6 UMR S 1127, Inserm U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, Paris, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Armand Trousseau- AP-HP, Paris, France.
authors.forename: Malek
authors.initials: M
authors.lastname: Louha
authors.affiliation: Institute of Clinical Medicine, University of Oslo, Oslo, Norway ; Department of Neurology, Oslo University Hospital, Ullevål, Oslo, Norway.
authors.forename: Chantal Me
authors.initials: CM
authors.lastname: Tallaksen
keywords: Ataxia; BHC; Benign hereditary chorea; Dystonia; Myoclonus; NKX2-1 gene
references.citation: Hum Mol Genet. 2002 Apr 15;11(8):971-9
references.pmid: 11971878
references.citation: N Engl J Med. 1967 Jun 1;276(22):1220-4
references.pmid: 4225827
references.citation: Curr Neurol Neurosci Rep. 2011 Aug;11(4):385-95
references.pmid: 21465146
references.citation: Neurology. 2002 Aug 27;59(4):579-84
references.pmid: 12196653
references.citation: Brain Dev. 2012 Mar;34(3):255-7
references.pmid: 21555194
references.citation: Neurology. 2015 Jul 7;85(1):80-8
references.pmid: 26085604
references.citation: Handb Clin Neurol. 2011;100:199-212
references.pmid: 21496579
references.citation: Neurodegener Dis Manag. 2014;4(1):67-72
references.pmid: 24640980
references.citation: Dev Med Child Neurol. 2012 Jul;54(7):618-23
references.pmid: 22515636
references.citation: Neurology. 2005 Jun 14;64(11):1952-4
references.pmid: 15955952
references.citation: Horm Res Paediatr. 2012;77(3):146-51
references.pmid: 22488412
references.citation: Neurology. 2015 Apr 28;84(17 ):1760-6
references.pmid: 25841028
references.citation: Mov Disord. 2002 May;17(3):585-9
references.pmid: 12112211
references.citation: Eur J Med Genet. 2013 Sep;56(9):506-9
references.pmid: 23911641
references.citation: Mov Disord. 2006 Dec;21(12):2237-40
references.pmid: 17044090
references.citation: J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62
references.pmid: 22832740
references.citation: Brain. 2009 Jun;132(Pt 6):1577-88
references.pmid: 19339254
references.citation: Am J Hum Genet. 2000 Jan;66(1):136-42
references.pmid: 10631144
references.citation: Clin Genet. 1978 Jan;13(1):85-95
references.pmid: 624192
references.citation: Parkinsonism Relat Disord. 2011 Jun;17(5):301-7
references.pmid: 21292530
references.citation: Mov Disord. 2007 Dec;22(16):2297-305; quiz 2452
references.pmid: 17702033
references.citation: Mov Disord. 2009 Apr 15;24(5):702-9
references.pmid: 19117362
references.citation: J Psychiatr Res. 1975 Nov;12(3):189-98
references.pmid: 1202204
references.citation: Ann Neurol. 2003 Aug;54(2):244-7
references.pmid: 12891678
references.citation: J Consult Clin Psychol. 1988 Feb;56(1):123-30
references.pmid: 3346437
references.citation: Neurology. 2006 Jun 13;66(11):1717-20
references.pmid: 16769946
references.citation: Mov Disord. 2011 Oct;26(12):2296-7
references.pmid: 21714005
references.citation: Tremor Other Hyperkinet Mov (N Y). 2015 Jul 14;5:314
references.pmid: 26196025
references.citation: Mov Disord. 2015 Mar;30(3):423-7
references.pmid: 25545163
references.citation: Pediatr Neurol. 2014 Oct;51(4):532-6
references.pmid: 25108317
references.citation: Eur J Neurol. 2015 Apr;22(4):610-7
references.pmid: 25643588