![]() Neurology 1997 49: 1009.Ĭondorelli DF, Nicoletti VG, Barresi V, Caruso A, Conticello S, De Vellis J, Giuffrida Stella AM. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. SCA2 is the most frequent cause of autosomal dominant cerebellar ataxia in southern Italy. Ann Neurol 1995 37: 176.ĭe Michele G, Santoro L, Calabrese O, Castaldo I, Giuffrida S, Restivo D, Serlenga L, Scala R, Coppola G, Grimaldi G, Cocozza S, Filla A. Analysis of the SCA1 CAG repeat in large number of families with dominant ataxia: clinical and molecular correlations. Brain 1994 117: 645.ĭubourg O, Durr A, Cancel G, et al. The trinucleotide repeat expansion on chromosome 6 p ( SCA1) in autosomal dominant cerebellar ataxia. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. ![]() Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar type 2. Pulst S, Nechiporuk A, Nechiporuk T, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997 15: 62.ĭavid G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A. Autosomal dominant cerebellar ataxia ( SCA6) associated with small polyglutamine expansions in the alpha (1A)-voltage-dependent calcium channel. ![]() Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee C. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy ( SCA4): clinical description and genetic localization to chromosome 16q 22.1. Nat Genet 1994 8: 221.įlanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ. GAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q 32.1. Kawaguchi Y, Okamoto T, Taniwaki M, et al. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Chromosomal assignment of the second locus for autosomal dominant cerebrellar ataxia ( SCA2) to chromosome 12q 23–24.1. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Orr HT, Chung M, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW, Zoghbi HY. A study of 11 families, including descendants of the “the Drew family of Walworth”. ![]() The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. With the rapid touchdown polymerase chain reaction method, the trinucleotide expansion was also observed in 2 ataxic patients without family history of the disease, suggesting the necessity for analysis of spinocerebellar ataxia type 2 expansion even in sporadic patients. We found that the spinocerebellar ataxia type 2 mutation is responsible for 88% of the examined autosomal dominant cerebellar ataxia type 1 families in our territory (eastern Sicily). A comparison of this technique with previously reported methods confirmed its utility for the rapid molecular diagnosis of spinocerebellar ataxia type 2. The pathological alleles are identified by a simple non-denaturing polyacrylamide electrophoretic separation followed by ethidium bromide staining. This method produces an efficient amplification of both normal and pathological alleles and no radioactive labelling is necessary to observe the amplification products. We describe an improved polymerase chain reaction assay, based on a touchdown protocol, for the diagnosis of spinocerebellar ataxia type 2. Five genes ( SCA1, 2, 3, 6, 7) have been cloned to date and show a single type of mutation, an unstable expansion of a CAG repeat coding for a polyglutamine stretch in the corresponding protein. Seven different chromosomal loci, designated SCA1 to SCA7 (spinocerebellar ataxias), have been identified as responsible for autosomal dominant cerebellar ataxias. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |