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Peer-reviewedCC BYCureus

Imaging Characteristics in the Ataxia-Neuropathy Spectrum Related to POLG Mutation.

  • Abraham Alhatou1
  • Omar M Alhatou2
  • Mohamed Ghamoodi3
  • Mohammed Alhatou4
4 affiliations
  1. 1Medical School, Lincoln Memorial University - DeBusk College of Osteopathic Medicine, Knoxville, USA.
  2. 2Medical School, Royal College of Surgeons in Ireland - Bahrain, Bahrain, BHR.
  3. 3Neurology Department, Hamad Medical Corporation, Al-Khor, QAT.
  4. 4Neurology Department, Hamad Medical Corporation, Doha, QAT.
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Abstract

Mutations in the mitochondrial DNA polymerase gamma (POLG) gene cause a broad spectrum of neurodegenerative disorders, including the ataxia-neuropathy spectrum (ANS). Substantial phenotypic heterogeneity and overlapping clinical features can delay diagnosis. We report a 38-year-old woman with no significant past medical history who presented with a three-year history of slowly progressive sensory ataxia that worsened in the dark. Examination revealed mild dysarthria, large-fiber sensory loss, and a positive Romberg sign. Extensive metabolic, toxic, autoimmune, and infectious work-up was unrevealing. Nerve conduction studies confirmed a mild peripheral sensory neuropathy. Brain magnetic resonance imaging (MRI) demonstrated distinct bilateral, symmetric T2-weighted and fluid-attenuated inversion recovery (FLAIR) hyperintensities in the dorsomedial thalami and cerebellar white matter. Whole-exome sequencing confirmed a homozygous W748S mutation in the POLG gene, establishing a diagnosis of POLG-related ANS. This imaging pattern, though not specific to POLG-related disease, may support earlier consideration of targeted genetic testing when present alongside a compatible clinical picture.

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Cite

BibTeXRIS
BibTeX
@article{alhatou2026imaging,
  title = {{Imaging Characteristics in the Ataxia-Neuropathy Spectrum Related to POLG Mutation.}},
  author = {Abraham Alhatou and Omar M Alhatou and Mohamed Ghamoodi and Mohammed Alhatou},
  journal = {Cureus},
  year = {2026},
  month = sep,
  doi = {10.7759/cureus.116575},
  url = {https://europepmc.org/article/MED/42903362},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Imaging Characteristics in the Ataxia-Neuropathy Spectrum Related to POLG Mutation.
AU  - Abraham Alhatou
AU  - Omar M Alhatou
AU  - Mohamed Ghamoodi
AU  - Mohammed Alhatou
PY  - 2026
DA  - 2026/09/20
JO  - Cureus
DO  - 10.7759/cureus.116575
UR  - https://europepmc.org/article/MED/42903362
AB  - Mutations in the mitochondrial DNA polymerase gamma (POLG) gene cause a broad spectrum of neurodegenerative disorders, including the ataxia-neuropathy spectrum (ANS). Substantial phenotypic heterogeneity and overlapping clinical features can delay diagnosis. We report a 38-year-old woman with no significant past medical history who presented with a three-year history of slowly progressive sensory ataxia that worsened in the dark. Examination revealed mild dysarthria, large-fiber sensory loss, and a positive Romberg sign. Extensive metabolic, toxic, autoimmune, and infectious work-up was unrevealing. Nerve conduction studies confirmed a mild peripheral sensory neuropathy. Brain magnetic resonance imaging (MRI) demonstrated distinct bilateral, symmetric T2-weighted and fluid-attenuated inversion recovery (FLAIR) hyperintensities in the dorsomedial thalami and cerebellar white matter. Whole-exome sequencing confirmed a homozygous W748S mutation in the POLG gene, establishing a diagnosis of POLG-related ANS. This imaging pattern, though not specific to POLG-related disease, may support earlier consideration of targeted genetic testing when present alongside a compatible clinical picture.
SN  - 2168-8184
ER  -