P398: Variable expressivity, incomplete penetrance, and perceptions of health: A family presenting with an unspecified spinocerebellar ataxia

Genetics in Medicine Open 2026 Open access

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Authors: Kelsey A Rondini, Ananya Jain, Yoliann Mojica Algarin, Precilla D’Souza, Julia Stone, Marie Morimoto, May Christine Malicdan, David R. Adams, William Allen Gahl, Camilo Toro, Maria Acosta, Ellen F. Macnamara
DOI: 10.1016/j.gimo.2026.103892
Cited by: 0

Abstract

Perceptions of health are both personal and varied, and illness representations are further complicated in families with diverse presentations of rare diseases. Spinocerebellar ataxias (SCA) are rare, degenerative neurologic disorders that affect about 3 in 100,000 people worldwide and primarily impact coordination, mobility, and speech. SCAs are heterogeneous, with over 40 identified types. Here we report a case of a participant who presented to the NIH Undiagnosed Diseases Program (UDP) seeking a diagnosis for a suspected SCA.

Fields of Study & Subjects

Genetic Neurodegenerative Diseases Hereditary Neurological Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103892–103892
Publication date
1 January 2026
Language
EN