A Novel TWNK Variant in a 63-Year-Old Man Presenting with CPEO, Myopathy, Neuropathy, and Parkinsonism (P8-9.011)

Jared Wolfe; Joanna Jen; Shanna Patterson; Susan Shin

doi:10.1212/wnl.0000000000215298

June 9, 2026Neurology

A Novel TWNK Variant in a 63-Year-Old Man Presenting with CPEO, Myopathy, Neuropathy, and Parkinsonism (P8-9.011)

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Key Points

The study aims to describe a novel TWNK variant in relation to chronic progressive external ophthalmoplegia and other associated conditions.
Case report of a 63-year-old man with CPEO, myopathy, neuropathy, and parkinsonism
Genetic analysis revealing a novel TWNK helicase-domain variant
Identification of a novel TWNK variant in the patient
Expanded understanding of TWNK-related disease phenotypes
Associated symptoms include CPEO, myopathy, neuropathy, and parkinsonism

Implication

Case report reveals a novel TWNK variant linked to multiple conditions in an adult, suggesting a broader impact of TWNK mutations.

Abstract

To report an adult with chronic progressive external ophthalmoplegia (CPEO), myopathy, neuropathy, and parkinsonism carrying a novel TWNK helicase-domain variant, expanding the phenotypic spectrum of TWNK-related disease.

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Cite This Study

Wolfe et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf3b4faef96ed7f056338 https://doi.org/10.1212/wnl.0000000000215298

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A Novel TWNK Variant in a 63-Year-Old Man Presenting with CPEO, Myopathy, Neuropathy, and Parkinsonism (P8-9.011)

Key Points

Implication

Abstract

Discussion

Cite This Study

A Novel TWNK Variant in a 63-Year-Old Man Presenting with CPEO, Myopathy, Neuropathy, and Parkinsonism (P8-9.011)

Key Points

Implication

Abstract

Discussion

Cite This Study

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