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September 28, 2026Clinical Case ReportsOpen Access

Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c. 395A >T; p. Lys132Met Mutation in CHCHD2

Mehri Salari Arash Soltani Masoud Etemadifar Kamran Rezaei

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Abstract

Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism. Clinicians should consider CHCHD2 in familial dementia with pyramidal signs, even when motor parkinsonism is absent.

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Salari et al. (2026) studied this question.

synapsesocial.com/papers/6abdf82e66f37546185164cd https://doi.org/10.1002/ccr3.73644

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

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