Chorea-Acanthocytosis (ChAc)

Publications

Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EM, Monaco AP, Danek A, Walker RH. Chorea-acanthocytosis genotype in the original Critchley Kentucky neuroacanthocytosis kindred. Arch Neurol. 2011 Oct;68(10):1330-3.
Dobson-Stone C, Rampoldi L, Bader B, Velayos-Baeza A, Walker RH, Danek A, Monaco AP. Chorea-Acanthocytosis. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2002 Jun 14 [updated 2011 Aug 18].

Bader B, Velayos-Baeza A, Walker RH, Danek A. Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative. Acta Neuropathol. 2009 Jan;117(1):95-6; author reply 97-8.

Ruiz-Sandoval JL, García-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-Martínez JJ, Barrera-Chairez E, Rodríguez-Figueroa EI, Pérez-García G.Choreoacanthocytosis in a Mexican family. Arch Neurol. 2007 Nov;64(11):1661-4.

Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E. Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Epilepsia. 2005 Aug; 46(8):1256-63. [PMID: 1606093] [PubMed record]
Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP. Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics. 2005 Sep;6(3):151-8. Epub 2005 Sep 28. [PMID: 15918062] [PubMed record]
Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V. Early clinical heterogeneity in choreoacanthocytosis. Arch Neurol. 2005 Apr;62(4):611-4. [PMID: 15824261] [PubMed record]

Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. Analysis of the human VPS13 gene family. Genomics. 2004 Sep;84(3):536-49. PMID: 15498460 [PubMed record]
Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP. Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol. 2004 Aug; 56(2):299-302. PMID: 15293285 [PubMed]

Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP. Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. Mov Disord. 2003 Apr; 18(4):403-7. PMID: 12671946 [PubMed record]

Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupre N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Nemeth A, Monaco AP. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet. 10:773-81.PMID: 12404112 [PubMed record]

Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carre S, Alonso E, Manfredi M, Nemeth AH, Monaco AP. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet. 28:119-20. [PubMed record]

Rubio JP, Levy ER, Dobson-Stone C, Monaco AP. Genomic organization of the human galpha14 and Galphaq genes and mutation analysis in chorea-acanthocytosis (CHAC). Genomics 57(1):84-93. PMID: 11381253 PMID: 10191087[Pubmed record]
Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Nemeth AH, Farrall M, Monaco AP. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 61(4): 899-908. [PubMed record]