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Phenotypic diversity in NAXE mutations.

Ismail Solmaz1,2, Dilek Yalnızoğlu3, Ali Dursun4

  • 1Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. drismailsolmaz@gmail.com.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|February 12, 2025
PubMed
Summary

Mutations in the NAD(P)HX epimerase (NAXE) gene cause progressive encephalopathy with varied symptoms. Early diagnosis and consideration of NAXE mutations are crucial for patients with central nervous system disorders.

Keywords:
NAXEMitochondrialPellagraRespiratory failureStroke

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Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • NAD(P)HX epimerase (NAXE) gene mutations are linked to early-onset progressive encephalopathy.
  • This study investigates three patients with NAXE mutations presenting with diverse initial symptoms.

Purpose of the Study:

  • To describe the clinical spectrum and genetic basis of NAXE-related encephalopathy.
  • To highlight the diagnostic challenges and varied presentations of this rare genetic disorder.

Main Methods:

  • Case series presentation of three patients with confirmed NAXE mutations.
  • Detailed clinical history, neurological examination, neuroimaging (MRI), and genetic analysis.
  • Exclusion of other potential causes through extensive laboratory investigations.

Main Results:

  • Patients exhibited distinct clinical courses, ages of onset, and MRI findings.
  • Presentations mimicked metabolic stroke and autoimmune encephalitis, complicating initial diagnosis.
  • Two distinct NAXE variants (c.641T>G; p.Ile214Ser and c.128 C>A, p.Ser43*) were identified in two unrelated families.

Conclusions:

  • NAXE is vital for mitochondrial energy production; mutations lead to toxic metabolite accumulation and cell death.
  • NAXE mutations should be considered in progressive central nervous system disorders with atypical presentations.
  • The diverse clinical manifestations underscore the importance of genetic testing for NAXE mutations.