Amyotrophic lateral sclerosis and spinocerebellar ataxia 2.
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چکیده
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منابع مشابه
Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.
IMPORTANCE A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (ALS) is described. OBSERVATIONS Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS. However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has been reported in the literature.We describe a 47-year-old woman with an 11-year history of ataxia an...
متن کاملAssociation of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.
OBJECTIVE To analyze the ataxin 2 (ATXN2) CAG repeat size in a cohort of patients with amyotrophic lateral sclerosis (ALS) and healthy controls. Large (CAG)(n) alleles of the ATXN2 gene (27-33 repeats) were recently reported to be associated with an increased risk of ALS. DESIGN Case-control study. SETTING France and Quebec, Canada. PARTICIPANTS A total of 556 case patients with ALS and 4...
متن کاملATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with unclear etiology. Recently, intermediate CAG repeat expansions in ATXN2, the gene responsible for spinocerebellar ataxia type 2 (SCA2), have been identified as a possible genetic risk factor for ALS. In this study, we analyzed the ATXN2 CAG repeat length in Chinese patients with ALS to evaluate the relationship betwe...
متن کاملNon-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease
BACKGROUND Spinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied when compared to the other types of SCAs and its spectrum is not well established. CASE REPORT Two newly detected cases of SCA8 with the nonataxic phenotype and unusual clinical...
متن کاملDe Novo Mutations in Ataxin-2 Gene and ALS Risk
Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is the genetic cause of spinocerebellar ataxia type 2 (SCA2). Recently, it has been associated with Parkinsonism and increased genetic risk for amyotrophic lateral sclerosis (ALS). Here we report the association of de novo mutations in ATXN2 with autosomal dominant ALS. These findings support our previous conjectures based on populati...
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عنوان ژورنال:
- Neurology
دوره 76 24 شماره
صفحات -
تاریخ انتشار 2011