Category: Rare Genetic and Metabolic Diseases
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A gene.
Background: ATP synthase (ATPase) is the enzyme responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. So far, only 4 types of ATPase subunit mutation (mutation of the gene for ATP5F1E, ATP5PO, ATP5F1A and ATP5MC3) have been described in detail, whose clinical profiles were heterogeneous and ranged from hypotonia to epilepsy with premature death or variable persistent abnormalities including movement disorders, (mainly dystonia), developmental delay, intellectual disability, hyperlactatemia and other neurological and systemic symptoms
Method: In the case report, we present a 44-year-old patient without a positive genetic history, born at term by prolonged labor with the development of early asphyxiation syndrome. He was diagnosed with cerebral palsy due to a motor and intellectual deficit practically from birth and epileptic seizures from the age of 4. Due to the gradual progression of the condition in terms of impaired walking, progression of active mobility of the limbs, involuntary movements of the upper left limb and urinary incontinence, he again sought medical help over the last few years
Results: The neurological examination revealed a picture of generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb. Basic laboratory and imaging tests did not explain the patient’s problems. Finally, whole-exome sequencing revealed a rare mutation that matched the patient’s clinical phenotype.
Conclusion: Mutational lesions of ATPase-encoding nuclear genes have not been sufficiently investigated to date, leading to the hypothesis that there are other variations of ATPase mutations associated with previously described or new clinical phenotypes of this type of extremely rare disease.
To cite this abstract in AMA style:
M. Danis, G. Krastev, J. Necpal, R. Jech, M. Zech. Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/mutation-of-the-atp5f1a-gene-associated-with-dystonia-spasticity-myoclonus-cognitive-impairment-and-epilepsy-a-rare-case-report-of-a-patient/. Accessed May 19, 2025.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/mutation-of-the-atp5f1a-gene-associated-with-dystonia-spasticity-myoclonus-cognitive-impairment-and-epilepsy-a-rare-case-report-of-a-patient/