A Tale of Two Inheritances: Possible Dual STUB1-linked Ataxias in One Family (P5-16.002)

Sudhir Kumar Palat Chirakkara; Qiang Zhang

doi:10.1212/wnl.0000000000215222

June 9, 2026Neurology

A Tale of Two Inheritances: Possible Dual STUB1-linked Ataxias in One Family (P5-16.002)

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Key Points

This case report aims to explore the coexistence of SCAR16 and SCA48 phenotypes in a single family, underscoring the complexity of STUB1-related ataxias.
Detailed familial history assessed for ataxia phenotypes.
Clinical evaluations and genetic testing conducted on affected family members.
Coexistence of SCAR16 and SCA48 phenotypes was confirmed in multiple generations.
The findings contribute to understanding the continuum of STUB1-related ataxias.

Implication

Case report demonstrates coexistence of SCAR16 and SCA48 in a family, suggesting a continuum of STUB1 ataxias.

Abstract

To present this unique case, demonstrating both SCAR16 and SCA48 phenotypes coexisting within a single multigenerational family, adding to the growing evidence of “continuum” between these STUB1 related ataxias.

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Cite This Study

Chirakkara et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf3d6faef96ed7f0564a3 https://doi.org/10.1212/wnl.0000000000215222

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A Tale of Two Inheritances: Possible Dual STUB1-linked Ataxias in One Family (P5-16.002)

Key Points

Implication

Abstract

Discussion

Cite This Study

A Tale of Two Inheritances: Possible Dual STUB1-linked Ataxias in One Family (P5-16.002)

Key Points

Implication

Abstract

Discussion

Cite This Study

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