Objective: To analyze the clinical and genetic features of a family with Parkinson's disease caused by expansion of CAG triplet repeat in the ATXN2 gene.
Methods: The CAG/CAA repeat in the ATXN2 gene was analyzed by polymerase chain reaction (PCR) and Sanger sequencing.
Results: Molecular testing has documented a pathological heterozygous expansion of the CAG repeat from 33 to 35 in 6 patients and other 8 family members. Two patients had pure CAG triplet repeat expansion in their ATXN2 gene, while others had CAA interruption.
Conclusion: Expanded CAG/CAA repeat in the ATXN2 gene is the causative mutation of the disease in this family.The 8 members with expanded CAG/CAA repeat may be asymptomatic patients. It is supposed that the number and configuration of the ATXN2 CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2015.06.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Since 1991, several genetic disorders caused by unstable trinucleotide repeats (TNRs) have been identified, collectively referred to as triplet repeat diseases (TREDs). They share a common mutation mechanism: the expansion of repeats (dynamic mutations) due to the propensity of repeated sequences to form unusual DNA structures during replication. TREDs are characterized as neurodegenerative diseases or complex syndromes with significant neurological components.
View Article and Find Full Text PDFA New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
Mov Disord
September 2024
Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
Background: Monoallelic, pathogenic STUB1 variants cause autosomal dominant cerebellar ataxia (ATX-STUB1/SCA48). Recently, a genetic interaction between STUB1 variants and intermediate or high-normal CAG/CAA repeats in TBP was suggested, indicating digenic inheritance or a disease-modifying role for TBP expansions.
Objective: To determine the presence and impact of intermediate or high-normal TBP expansions in ataxic patients with heterozygous STUB1 variants.
A DLB patient with complicated CAA interruptions and intermediate alleles of 43 CAG/CAA repeats in TBP.
Acta Neurol Belg
April 2024
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, Zhejiang, China.
Phenotypic defects from the expression of wild-type and pathogenic TATA-binding proteins in new Drosophila models of Spinocerebellar Ataxia Type 17.
G3 (Bethesda)
September 2023
Department of Pharmacology, School of Medicine, Wayne State University, Detroit, MI 48201, USA.
Article Synopsis
- - Spinocerebellar Ataxia Type 17 (SCA17) is a recently discovered genetic disorder caused by abnormal expansions in a specific gene (TBP) and leads to symptoms like ataxia and dementia, inherited in an autosomal dominant manner.
- - Unlike other similar disorders, SCA17 shows a low incidence of genetic anticipation, meaning severity and onset don't worsen significantly across generations.
- - Recent research introduced two new Drosophila (fruit fly) models that express the mutated TBP protein, helping to understand how age and tissue type affect neurodegeneration, with these models potentially guiding future therapeutic developments.
3 and Systems Mediated Base Editing in Kiwifruit Canker Causal Agent pv. .
Int J Mol Sci
February 2023
School of Horticulture, Anhui Agricultural University, Hefei 230036, China.
pv. () causes bacterial canker of kiwifruit with heavy economic losses. However, little is known about the pathogenic genes of .
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!