The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients [6]

Movement Disorders

Volumn 22, Issue 5, 2007, Pages 752-753

  Cagnoli, Claudia ^a   Brussino, Alessandro ^a   Di Gregorio, Eleonora ^a   Brusco, Alfredo ^a   Stevanin, Giovanni ^b   Durr, Alexandra ^b   Brice, Alexis ^b  

^a UNIVERSITY OF TURIN   (Italy)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AGAROSE; ATAXIN 1; ATAXIN 3; ATAXIN 7; ETHIDIUM BROMIDE; RESTRICTION ENDONUCLEASE;

AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CHROMOSOME SUBSTITUTION; DISEASE TRANSMISSION; EUROPE; GENE AMPLIFICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; LETTER; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION MAPPING; STAINING;

ADOLESCENT; ADULT; AGED; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENES, DOMINANT; GENETICS, POPULATION; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MIDDLE AGED; SPECTRIN; SPINOCEREBELLAR ATAXIAS;

EID: 34249016915     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21389     Document Type: Letter

References (5)

1. Ishikawa K, Toru S, Tsunemi T, et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 2005;77:280-296.
2. Ohata T, Yoshida K, Sakai H, et al. A -16C > T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. J Hum Genet 2006;51:461-466.
3. Wieczorek S, Arning L, Alheite I, Epplen JT. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. J Hum Genet 2006;51:363-367.
4. Stevanin G, Durr A, Dussert C, Penet C, Brice A. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology 2004;63:936.
5. Brusco A, Gellera C, Cagnoli C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004;61:727-733.