We herein report a 20 years old female, who presented with axial myoclonus, dysarthria and gait ataxia.
Background: Autosomal recessive ataxias are a group of heterogeneous disorders and their genetic definition remains still undetermined in almost half of the patients. Coenzyme Q10 (CoQ10) deficiencies are a heterogeneous group of autosomal recessive conditions caused by mutations in genes encoding different CoQ10 biosynthesis enzymes.
Method: Case report
Results: At the age of 14, she noticed upper extremity tremor and gait ataxia. It was progressed. After two years, she had axial myoclonus. The patient’s examiantion was revealed a mild global dysarthria. She had mild symmetric generalized weakness (4/5) including, proximal upper limbs and lower limbs. Also, she had gait ataxia, it was wide-based, with irregular stepping, and was unable to tandem. She also had axial myoclonus and upper extremity ataxia, characterized by dysmetria, mild dysdiadochokinesia. Brain magnetic resonance imaging showed mild global cerebellar atrophy. Mutation was identified by whole exome sequencing and homozygous mutation was detected in ADCK 3 gene (c.1013C> T p.Ala338Val) (NM_020247.4).
Conclusion: Treatment with CoQ10 was started as 10 mg/kg. After 1 year follow-up, patient neurological condition, gait ataxia slightly improved.
References: 1- Horvath R, Czermin B, Gulati S, et al. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. J Neurol Neurosurg Psychiatry 2012;83:174–178. 2- Chang, A., Ruiz‐Lopez, M., Slow, E., Tarnopolsky, M., Lang, A.E. and Munhoz, R.P. (2018), ADCK3‐related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease. Mov Disord Clin Pract, 5: 635-639. doi:10.1002/mdc3.12667 3- Barca E, Musumeci O, Montagnese F, et al. Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. Clin Genet 2016;90:156–160.
To cite this abstract in AMA style:M. Gultekin. Axial myoclonus and cerebellar ataxia in a patient with mutation in ADCK3 [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/axial-myoclonus-and-cerebellar-ataxia-in-a-patient-with-mutation-in-adck3/. Accessed December 2, 2023.
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