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A novel ATP1A3 mutation with unique clinical presentation.
Hendrik Rosewich1, Martina Baethmann2, Andreas Ohlenbusch1
1Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center, Georg August University, Göttingen, Germany.
Journal of the Neurological Sciences
|April 10, 2014
Summary
Mutations in the ATP1A3 gene can cause rare neurological disorders. A new ATP1A3 mutation, G867D, was found in a patient with a unique intermediate phenotype, expanding the known spectrum of these conditions.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Mutations in the ATP1A3 gene are linked to rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC).
- Recognizing phenotypic diversity is crucial for understanding ATP1A3-related disorders.
- Lowering mutation analysis thresholds aids in identifying atypical RDP or AHC presentations.
Observation:
- A novel heterozygous ATP1A3 missense mutation (c.2600G>A, p.Gly867Asp or G867D) was identified in a 15-year-old female.
- The patient presented with recurrent, paroxysmal, flaccid hemiplegia, alternating in laterality, triggered by visual stimuli.
- A unique feature was the cessation of plegic attacks upon eye occlusion while the patient remained awake.
Findings:
- The patient's phenotype partially aligns with an intermediate presentation between AHC and RDP.
- The observed symptoms, including visually triggered hemiplegia and its resolution with eye occlusion, are previously unreported in ATP1A3-related disorders.
- The G867D mutation expands the genotypic and phenotypic spectrum associated with ATP1A3.
Implications:
- This case broadens the understanding of ATP1A3-related neurological conditions.
- It highlights the importance of considering ATP1A3 mutations in patients with atypical movement or hemiplegic disorders.
- Further research into the functional consequences of the G867D mutation may elucidate disease mechanisms.
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