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September 10, 2025Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Unique patient with ataxia with oculomotor apraxia type 1: a novel homozygous variant in APTX gene and delayed onset age

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Authors

ZSZhengzhe SunSJShan JinXFXiang Fang

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Overview

Case study reveals a novel homozygous variant in the APTX gene affecting ataxia and oculomotor apraxia.

Key Points

  • A novel homozygous variant in the APTX gene was identified in a unique patient with ataxia.
  • Delayed onset age suggests variability in the presentation of the condition linked to genetic factors.
  • The findings support the need for genetic testing in cases of ataxia with unexplained symptoms.
  • Further research is needed to understand the full implications of this novel variant on patient outcomes.

Cite This Study

Sun et al. (2025) studied this question.

synapsesocial.com/papers/68c183f89b7b07f3a060fb96https://doi.org/10.1017/cjn.2025.10408
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Also Consider

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

  1. 1<i>APTX</i> variant c.465del, p.(Asp156Metfs*16): Ataxia with oculomotor apraxia type 12026
  2. 2Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype–phenotype relationship2024 · 3 citations
  3. 3Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report2024
  4. 4Ataxia and Azoospermia Caused by an MT-ATP6 Mutation with Apparent Anticipation due to Heteroplasmy in a Large Extended Kindred (P4-16.011)2026
  5. 5A unique poikilodermatous condition associated with a <i>de novo</i> heterozygous <i>ATR</i> missense variant2026