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Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?
Invernizzi F, Zorzi G, Legati A, Coppola G, D'Adamo P, Nardocci N, Garavaglia B, Ghezzi D. Invernizzi F, et al. Eur J Med Genet. 2018 Oct;61(10):581-584. doi: 10.1016/j.ejmg.2018.03.011. Epub 2018 Apr 3. Eur J Med Genet. 2018. PMID: 29621620 Free article.
Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. ...We report on a three-generation Italian family, with 6 s …
Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinat …
Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
Asmus F, Devlin A, Munz M, Zimprich A, Gasser T, Chinnery PF. Asmus F, et al. Mov Disord. 2007 Oct 31;22(14):2104-9. doi: 10.1002/mds.21692. Mov Disord. 2007. PMID: 17702043
Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. ...In addition, dystonia of the neck and trunk as well as fleeting jerky movements of the distal limbs could be observed. The mutually exclusiv …
Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. ...In addi …
Hereditary benign chorea: clinical and genetic features of a distinct disease.
Fernandez M, Raskind W, Matsushita M, Wolff J, Lipe H, Bird T. Fernandez M, et al. Neurology. 2001 Jul 10;57(1):106-10. doi: 10.1212/wnl.57.1.106. Neurology. 2001. PMID: 11445636
OBJECTIVE: To describe a second family with benign hereditary chorea (BCH, OMIM 118700) and suggestive linkage to chromosome 14q. ...METHODS: In a four-generation family with BCH, linkage was evaluated to markers in a 23-KcM region between D14S49 and D14S66 t …
OBJECTIVE: To describe a second family with benign hereditary chorea (BCH, OMIM 118700) and suggestive linkage to chrom …
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.
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. Iodice A, et al. Brain Dev. 2019 Mar;41(3):250-256. doi: 10.1016/j.braindev.2018.10.001. Epub 2018 Oct 21. Brain Dev. 2019. PMID: 30352709
Focusing on NKX2-1-related chorea, the clinical phenotype and sleep related disorders have been only partially characterized. METHODS: We propose a retrospective and longitudinal observational study in 7 patients with non-progressive chorea due to NKX2-1 mutations. ...
Focusing on NKX2-1-related chorea, the clinical phenotype and sleep related disorders have been only partially characterized. METHODS: We pr …
Benign hereditary chorea: clinical, genetic, and pathological findings.
Kleiner-Fisman G, Rogaeva E, Halliday W, Houle S, Kawarai T, Sato C, Medeiros H, St George-Hyslop PH, Lang AE. Kleiner-Fisman G, et al. Ann Neurol. 2003 Aug;54(2):244-7. doi: 10.1002/ana.10637. Ann Neurol. 2003. PMID: 12891678
Benign hereditary chorea is an autosomal dominant disorder presenting with childhood-onset chorea, no dementia, and little or no progression. We present a family with typical clinical features of benign hereditary chorea. Pathological inv …
Benign hereditary chorea is an autosomal dominant disorder presenting with childhood-onset chorea, no dementia, and lit …
Benign hereditary chorea of early onset maps to chromosome 14q.
de Vries BB, Arts WF, Breedveld GJ, Hoogeboom JJ, Niermeijer MF, Heutink P. de Vries BB, et al. Am J Hum Genet. 2000 Jan;66(1):136-42. doi: 10.1086/302725. Am J Hum Genet. 2000. PMID: 10631144 Free PMC article.
Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by an early-onset nonprogressive chorea. ...We studied a large Dutch kindred with BHC and obtained strong evidence for linkage between the disorder and markers on chromosome 14q (m …
Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by an early-onset nonprogressive chorea. …
Benign hereditary chorea 2: pathological findings in an autopsy case.
Yoshida Y, Nunomura J, Shimohata T, Nanjo H, Miyata H. Yoshida Y, et al. Neuropathology. 2012 Oct;32(5):557-65. doi: 10.1111/j.1440-1789.2011.01288.x. Epub 2012 Jan 12. Neuropathology. 2012. PMID: 22239265
Two Japanese families with benign hereditary chorea (BHC) 2 have recently been reported. BHC 2 is characterized by adult-onset non-progressive chorea, and by genetic abnormality in the locus of chromosome 8q21.3-q23.3. ...The movements had slowly spread to he …
Two Japanese families with benign hereditary chorea (BHC) 2 have recently been reported. BHC 2 is characterized by adul …
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.
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, Billette de Villemeur T, Vidailhet M, Doummar D. Gras D, et al. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24. J Neurol Neurosurg Psychiatry. 2012. PMID: 22832740
BACKGROUND: Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by childhood onset that tends to improve in adulthood. ...Among the 14 patients followed-up until adulthood, nine had persistent mild chorea, two had near total res …
BACKGROUND: Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by childhood onset that …
ADCY5 mutations are another cause of benign hereditary chorea.
Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP. Mencacci NE, et al. Neurology. 2015 Jul 7;85(1):80-8. doi: 10.1212/WNL.0000000000001720. Epub 2015 Jun 17. Neurology. 2015. PMID: 26085604 Free PMC article.
OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC). METHODS: We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. ...The clinical p …
OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea …
Mutations in TITF-1 are associated with benign hereditary chorea.
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. Breedveld GJ, et al. Hum Mol Genet. 2002 Apr 15;11(8):971-9. doi: 10.1093/hmg/11.8.971. Hum Mol Genet. 2002. PMID: 11971878
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests th …
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (us …
18 results