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Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.

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Summary
This summary is machine-generated.

Spinocerebellar ataxia type 17 (ATX-TBP) shows varied symptoms. This review proposes new repeat expansion ranges for ATX-TBP, refining diagnosis and understanding of this neurodegenerative disorder.

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Area of Science:

  • Genetics and Neurology
  • Neurodegenerative Disorders

Background:

  • Spinocerebellar ataxia type 17 (ATX-TBP) is a CAG/CAA repeat expansion disorder with significant clinical variability.
  • Previous studies have questioned established repeat expansion cutoffs and the phenotypic spectrum of ATX-TBP due to overlapping findings in carriers and Parkinson's disease (PD) patients.

Approach:

  • Conducted a systematic review following the MDSGene protocol to explore genotype-phenotype relationships in TBP repeat expansions.
  • Curated phenotypic and genotypic data from 346 ATX-TBP patients and analyzed repeat sizes in PD patients and healthy individuals.

Key Points:

  • Identified a gray zone of reduced penetrance for ATX-TBP between 41 and 45 repeats.
  • Observed pure parkinsonism in patients with 41-45 repeats, contrasting with complex phenotypes in those with ≥46 repeats.
  • 97.7% of ATX-TBP patients had ≥41 repeats, while 99.6% of PD patients and 99.9% of healthy individuals had ≤42 repeats.

Conclusions:

  • Proposed updated repeat expansion cutoff values for ATX-TBP: 41-45 repeats for reduced penetrance and 46-66 repeats for full penetrance.
  • These revised cutoffs offer improved diagnostic accuracy and counseling for ATX-TBP.
  • The findings may inform future clinical trial designs for ATX-TBP and related disorders.