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June 13, 2026Neurology

Ataxia and Azoospermia Caused by an MT-ATP6 Mutation with Apparent Anticipation due to Heteroplasmy in a Large Extended Kindred (P4-16.011)

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Authors

DZDavid ZhuCXChangrui XiaoJPJon Pryor

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Overview

Study investigates heterogeneous mt-atp6 mutation impact on ataxia onset in affected family, suggesting genetic influence.

Key Points

  • To explore the relationship between mt-atp6 heteroplasmy and the clinical features and age of onset of ataxia in a family.
  • Investigated genetic mutations in the mt-atp6 gene within an extended family.
  • Analyzed clinical presentations of ataxia and azoospermia among affected individuals.
  • Findings suggest a correlation between mt-atp6 heteroplasmy and earlier age of onset of ataxia.
  • Clinical features vary significantly across family members due to differing levels of heteroplasmy.

Cite This Study

Zhu et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf32afaef96ed7f055b84https://doi.org/10.1212/wnl.0000000000215179
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred2026
  2. 2A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies2024 · 5 citations
  3. 3Intrafamilial Variability in Ataxia-Telangiectasia: A Case Report of Three Siblings with Identical ATM Mutations2025
  4. 4Unique patient with ataxia with oculomotor apraxia type 1: a novel homozygous variant in <i>APTX</i> gene and delayed onset age2025
  5. 5Progressive Retinal and Neurologic Findings in a Family With Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome2026