Category: Rare Genetic and Metabolic Diseases
Objective: To describe the phenomenology of SCAR9, caused by a homozygotic mutation in COQ8A gene, and to describe the positive effects of a holistic approach to the treatment.
Background: Coenzyme Q10 deficiency causes a variety of rare genetic conditions. Autosomal recessive spinocerebellar ataxia 9 (SCAR9) is caused by mutations of COQ8A gene, characterized by dystonia, epilepsy, tremor and ataxia.
Method: Description of two siblings carrying the same homozygotic mutation and presenting with different phenomenology.
Results: A 21-year-old boy presented with a complex neurologic syndrome, started 6 years previously with exercise intolerance, rigidity of the right lower limb, myoclonus of the upper limbs, head and right lower limb, dystonia of the feet, dystonic posture of the hands and episodes characterized by stereotyped behaviours and visual hallucinations, as well as episodes characterized by jerks of the right side of his face, which lasted some seconds. We performed: abdomen ultrasound (hepatomegaly), EMG, EEG, ophthalmologic assessment, urine copper, lumbar puncture, autoimmune assessment, levodopa challenge, brain MRI, neuropsychological tests (all normal) and genetic testing, which enabled us to make the diagnosis. Our approach to treatment is a holistic one, since it involves rehabilitation, both physical and cognitive, logopaedic sessions, pharmacologic treatment and botulinum toxin injections. We have been following him up for four years. His cognition is now affected as well (prominent visuo-spatial deficits and executive dysfunction). He undergoes cycles of worsening and improving, and he still has an optimal response to treatment. His younger brother never complained of any neurological symptom. Nevertheless, on neurological examination he showed: polykinetic reflexes, Babinski sign, postural and kinetic tremor, dystonic posture of the hands, frenage on finger-nose test. We performed neuropsychological evaluation (normal), brain MRI (cerebellar atrophy) and genetic testing (positive). We treat him with ubidecarenone and physical activity, and we have not seen any neurological worsening in our six-months follow-up.
Conclusion: SCAR9 is a rare neurological disorder, presenting with a heterogeneous phenomenology. Making an early diagnosis is of paramount importance in order to ensure early treatment with a holistic approach to patients.
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To cite this abstract in AMA style:
S. Cartella, S. Bertino, A. Gardin, S. Neri, A. Battaglia, G. Foti, C. Terranova, G. Cartella, A. Quartarone. Phenomenology of Coenzyme Q10-deficiency Spinocerebellar Ataxia: Case Description Of Two Siblings And New Therapeutic Perspectives [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/phenomenology-of-coenzyme-q10-deficiency-spinocerebellar-ataxia-case-description-of-two-siblings-and-new-therapeutic-perspectives/. Accessed October 15, 2024.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/phenomenology-of-coenzyme-q10-deficiency-spinocerebellar-ataxia-case-description-of-two-siblings-and-new-therapeutic-perspectives/