C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population.
نویسندگان
چکیده
Cohorts of amyotrophic lateral sclerosis (ALS) patients and control individuals of Caucasian origin from the Central European Russia (Moscow city and region) were analyzed for the presence of hexanucleotide repeat GGGGCC expansion within the first intron of the C9ORF72 gene. The presence of a large (>40) repeat expansion was found in 15% of familial ALS cases (3 of 20 unrelated familial cases) and 2.5% of sporadic ALS cases (6 of 238) but in none of control cases. These results suggest that the frequency of C9ORF72 hexanucleotide repeats expansions in the Central European Russian ALS patients is significantly lower than in Western European or Northern American ALS patients of Caucasian origin but higher than in Asian ALS patients.
منابع مشابه
ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.
BACKGROUND Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion. METHODS We studied a family consisting of 37 family members, 6 of whom were g...
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عنوان ژورنال:
- Neurobiology of aging
دوره 36 10 شماره
صفحات -
تاریخ انتشار 2015