Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review. Issue 1 (30th March 2021)

• Record Type: Journal Article
• Authors: Uccella, Sara; Pisciotta, Livia; Severino, Mariasavina; Bertini, Enrico; Giacomini, Thea; Zanni, Ginevra; Prato, Giulia; De Grandis, Elisa; Nobili, Lino; Mancardi, Maria Margherita
• Is Part Of: Epileptic disorders. Volume 23:Issue 1(2021)
• Page Start: 153
• Page End: 160
• Publication Date: 2021-03-30
• Subjects: ABC1/COQ8 -- photosensitivity -- epilepsy -- cerebellar atrophy -- coenzyme Q10 deficiency; Epilepsy -- Periodicals; 616.853
• DOI: 10.1684/epd.2021.1243
• Languages: English
• ISSNs: 1294-9361

Abstract

Abstract: Mutations in AarF domain‐containing kinase 3 ( ADCK3 ) are responsible for the most frequent form of hereditary coenzyme Q10 (CoQ10) deficiency (Q10 deficiency‐4), which is mainly associated with autosomal recessive cerebellar ataxia type 2 (ARCA2). Clinical presentation is characterized by a variable degree of cerebellar atrophy and a broad spectrum of associated symptoms, including muscular involvement, movement disorders, neurosensory loss, cognitive impairment, psychiatric symptoms and epilepsy. In this report, we describe, for the first time, a case of photoparoxysmal response in a female patient with a mutation in ADCK3 . Disease onset occurred in early childhood with gait ataxia, and mild‐to‐moderate degeneration. Seizures appeared at eight years and six months, occurring only during sleep. Photoparoxysmal response was observed at 14 years, almost concomitant with the genetic diagnosis (c.901C>T;c.589‐3C>G) and the start of CoQ10 oral supplementation. A year later, disease progression slowed down, and photosensitivity was attenuated. A review of the literature is provided focusing on epileptic features of ADCK3 ‐related disease as well as the physiopathology of photoparoxysmal response and supposed cerebellar involvement in photosensitivity. Moreover, the potential role of CoQ10 oral supplementation is discussed. Prospective studies on larger populations are needed to further understand these data.