MNV-aware molecular characterization of a rare homozygous TTPA complex allele in ataxia with vitamin E deficiency.
Majid Zaki-Dizaji, Mina Mohammadi Sarband
✦ AI-curated · Sources linked
Case in brief
A 34-year-old woman presented with childhood-onset progressive ataxia, diagnosed as ataxia with vitamin E deficiency due to a homozygous TTPA complex allele. Initial serum vitamin E levels were critically low at 0.8 µg/mL, which increased to 7.5 µg/mL after 12 months of supplementation. This biochemical improvement correlated with observed enhancements in gait stability, coordination, speech, and fine motor skills.
What made this case unusual
The case highlights a rare homozygous TTPA complex allele characterized by multi-nucleotide variants, which may be misinterpreted if evaluated separately.
Diagnostic / clinical pearl
Clinicians should consider the potential for multi-nucleotide variants in TTPA when diagnosing ataxia with vitamin E deficiency, as these can complicate genetic interpretation.
Why it matters
This case underscores the importance of MNV-aware interpretation in genetic testing, which can lead to more accurate diagnoses and timely interventions in similar cases.