A previously unreported ELOVL4 frameshift variant in a patient with early severe cognitive decline, parkinsonism, and cerebellar ataxia: A case report.
Jingtong Zhou, Xiaohui Wen, Zhijun Lin
✦ AI-curated · Sources linked
Case in brief
A 35-year-old man presented with a 5-year history of progressive cognitive decline, parkinsonism, and cerebellar ataxia. Neurological examination revealed significant motor and cognitive impairments, with imaging showing marked cerebellar and cerebral atrophy. Whole-exome sequencing identified a previously unreported ELOVL4 frameshift variant. The patient experienced mild improvement in some symptoms over one year, although others worsened.
What made this case unusual
The combination of severe cognitive decline, parkinsonism, and cerebellar ataxia in this patient is atypical for ELOVL4-related ataxia, making the case noteworthy.
Diagnostic / clinical pearl
Clinicians should consider genetic testing in patients with atypical presentations of ataxia and cognitive decline to differentiate hereditary conditions from degenerative syndromes.
Why it matters
Understanding the genetic basis of atypical ataxia presentations can aid in diagnosis and management, highlighting the importance of molecular validation in clinical practice.