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Related Experiment Video

Updated: Jul 11, 2025

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Case report: Episodic ataxia without ataxia?

Andrea Gaudio1, Fabio Gotta1, Clarissa Ponti1,2

  • 1IRCCS Ospedale Policlinico San Martino-UOC Genetica Medica, Genova, Italy.

Frontiers in Neurology
|November 15, 2023
PubMed
Summary

Genetic testing for hereditary myopathies is complex. This study identified two rare variants in UBR4 and HSPG2 genes in a family with myotonia-like symptoms, highlighting diagnostic challenges and genotype-phenotype correlations.

Keywords:
HSPG2UBR4episodic ataxiagenetic modifiersgenetic testinghereditary myopathies

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Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Background:

  • Hereditary myopathies are diverse neuromuscular disorders with variable symptoms.
  • Clinical diagnosis is often difficult due to overlapping phenotypes and genetic complexity.
  • Genetic testing challenges arise from ambiguous clinical presentations.

Observation:

  • A family presented with myotonia-like symptoms and abnormal Electromyography (EMG) findings.
  • Whole Exome Sequencing (WES) revealed co-segregating rare missense variants in UBR4 and HSPG2 genes.

Findings:

  • The identified variants in UBR4 and HSPG2 are typically associated with Episodic Ataxia 8 (EA8).
  • A significant overlap was noted between the family's clinical presentation and previously described episodic ataxias (EAs).

Implications:

  • This case challenges established genotype-phenotype correlations in neuromuscular and ataxia disorders.
  • Precise phenotyping is crucial for accurate genetic diagnosis, improving patient prognosis and treatment strategies.