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Aprataxin (APTX) gene mutations resembling multiple system atrophy.

Yasuhiko Baba1, Ryan J Uitti, Kevin B Boylan

  • 1Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

Parkinsonism & Related Disorders
|October 20, 2006
PubMed
Summary

Mutations in the aprataxin (APTX) gene cause early-onset ataxia. New APTX gene variants show varied symptoms, sometimes mimicking other neurological conditions like multiple system atrophy.

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • The aprataxin (APTX) gene is linked to early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), a rare neurological disorder.
  • Clinical presentations of EAOH can exhibit heterogeneity, suggesting other factors influencing disease manifestation.

Observation:

  • Two patients presented with clinical features resembling cerebellar subtype of multiple system atrophy (MSA-C).
  • These patients lacked the typical ocular motor apraxia and hypoalbuminemia associated with EAOH.
  • Genetic analysis revealed distinct nucleotide transitions in the APTX gene in each patient: 725G-->A and 457A-->G.

Findings:

  • The identified APTX gene variants (725G-->A and 457A-->G) are associated with a broader spectrum of neurological symptoms than previously recognized.
  • These findings highlight significant phenotypic variability within APTX-related disorders.
  • The clinical presentation can diverge from classic EAOH, mimicking conditions like MSA-C.

Implications:

  • This expands the known clinical spectrum of APTX gene mutations.
  • It suggests that genetic testing for APTX should be considered in patients with cerebellar ataxia, even without classic EAOH features.
  • Understanding this variability is crucial for accurate diagnosis and management of ataxia patients.