What question did this study set out to answer?

This study aims to expand the understanding of the phenotypic and genetic variations of AOA1 by documenting a novel APTX variant.

June 14, 2026Journal of Neurosciences in Rural PracticeOpen Access

APTX variant c.465del, p.(Asp156Metfs*16): Ataxia with oculomotor apraxia type 1

View Full Paper

Ask AI

Bookmark

Authors

ZYZehra Yavuz ÖMÖzlem Bizpınar Munis SÇSelim Selçuk Çomoğlu

Discussion

Member takes

Overview

Case report highlights a novel genetic variant causing late-onset ataxia in an individual with preserved cognition, suggesting a broader phenotype of AOA1.

Key Points

This study aims to expand the understanding of the phenotypic and genetic variations of AOA1 by documenting a novel APTX variant.
Case report of a 33-year-old Turkish woman with a novel homozygous APTX frameshift variant (c.465del, p.Asp156Metfs*16).
Clinical assessment included evaluation of ataxia, oculomotor apraxia, dystonia, and sensorimotor neuropathy.
The patient presented with adolescent-onset cerebellar ataxia and oculomotor apraxia, along with mild dystonia and sensorimotor axonal polyneuropathy.
Metabolic abnormalities such as hypoalbuminemia and hypercholesterolemia were observed, while cognitive function remained intact.

Cite This Study

Yavuz et al. (2026) studied this question.

synapsesocial.com/papers/6a2e46dbb1cc60ccdea8b796 https://doi.org/10.25259/jnrp_358_2025

View Full Paper

Ask AI

Bookmark

June 14, 2026Journal of Neurosciences in Rural PracticeOpen Access

APTX variant c.465del, p.(Asp156Metfs*16): Ataxia with oculomotor apraxia type 1

View Full Paper

Ask AI

Bookmark

Authors

ZYZehra Yavuz ÖMÖzlem Bizpınar Munis SÇSelim Selçuk Çomoğlu

Discussion

Member takes

Overview

Case report highlights a novel genetic variant causing late-onset ataxia in an individual with preserved cognition, suggesting a broader phenotype of AOA1.

Key Points

This study aims to expand the understanding of the phenotypic and genetic variations of AOA1 by documenting a novel APTX variant.
Case report of a 33-year-old Turkish woman with a novel homozygous APTX frameshift variant (c.465del, p.Asp156Metfs*16).
Clinical assessment included evaluation of ataxia, oculomotor apraxia, dystonia, and sensorimotor neuropathy.
The patient presented with adolescent-onset cerebellar ataxia and oculomotor apraxia, along with mild dystonia and sensorimotor axonal polyneuropathy.
Metabolic abnormalities such as hypoalbuminemia and hypercholesterolemia were observed, while cognitive function remained intact.

Cite This Study

Yavuz et al. (2026) studied this question.

synapsesocial.com/papers/6a2e46dbb1cc60ccdea8b796 https://doi.org/10.25259/jnrp_358_2025

Also Consider

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

View Full Paper

Ask AI

Bookmark