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Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.
Uccella, Sara; Pisciotta, Livia; Severino, Mariasavina; Bertini, Enrico; Giacomini, Thea; Zanni, Ginevra; Prato, Giulia; De Grandis, Elisa; Nobili, Lino; Mancardi, Maria Margherita.
Affiliation
  • Uccella S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy, Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Pisciotta L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy, Unit of Child Neuropsychiatry, Department of Neurosciences, ASST Fatebenefratelli-Sacco, Milan, Italy.
  • Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
  • Giacomini T; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy, Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
  • Prato G; Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • De Grandis E; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy, Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Nobili L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy, Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Mancardi MM; Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Epileptic Disord ; 23(1): 153-160, 2021 Feb 01.
Article in En | MEDLINE | ID: mdl-33622667
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Ubiquinone / Epilepsy, Reflex / Mitochondrial Proteins Type of study: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Female / Humans Language: En Journal: Epileptic Disord Journal subject: CEREBRO / NEUROLOGIA Year: 2021 Document type: Article Affiliation country: Italy Country of publication: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Ubiquinone / Epilepsy, Reflex / Mitochondrial Proteins Type of study: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Female / Humans Language: En Journal: Epileptic Disord Journal subject: CEREBRO / NEUROLOGIA Year: 2021 Document type: Article Affiliation country: Italy Country of publication: United States