Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2.
Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2.
Where did the research take place?
The study site has not been established. Author addresses may differ from where the research occurred.
Tehran, IR · Author affiliation
School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran.Location evidence
Isfahan, IR · Author affiliation
Faculty of Medicine Isfahan University of Medical Sciences Isfahan Iran.Location evidence
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Original 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.