One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2)

Schirinzi, Tommaso; Favetta, Martina; Romano, Alberto; Sancesario, Andrea; Summa, Susanna; Minosse, Silvia; Zanni, Ginevra; Castelli, Enrico; Bertini, Enrico; Petrarca, Maurizio; Vasco, Gessica

doi:10.1186/s40673-019-0109-2

Cited by 16 publications

(19 citation statements)

References 11 publications

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“…Substitutive therapy with CoQ10 has led to controversial results, however, early diagnosis would appear to allow for early treatment with better motor outcome [5, 6, 18]. Similarly, our patient showed a mild progressive course during the first years after onset, with no further worsening of motor involvement after the introduction of CoQ10, while sporadic seizures persisted.…”

Section: Discussionmentioning

confidence: 53%

Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review

Uccella¹,

Pisciotta

Severino

et al. 2021

Epileptic Disorders

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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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Section: Discussionmentioning

confidence: 53%

Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review

Uccella¹,

Pisciotta

Severino

et al. 2021

Epileptic Disorders

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“…SARA is "recommended" to assess cerebellar symptoms of different types of ataxia. It has been utilized by research groups other than the developer [3, [29][30][31][32], and adequate psychometric proprieties support its use [33].…”

Section: Outcome Measurementioning

confidence: 99%

Upper Body Physical Rehabilitation for Children with Ataxia through IMU-Based Exergame

Romano

Favetta

Summa

et al. 2022

JCM

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Background: Children with ataxia experience balance and movement coordination difficulties and needs intensive physical intervention to maintain functional abilities and counteract the disorder. Exergaming represents a valuable strategy to provide engaging physical intervention to children with ataxia, sustaining their motivation to perform the intervention. This paper aims to describe the effect of a home-conducted exergame-based exercise training for upper body movements control of children with ataxia on their ataxic symptoms, walking ability, and hand dexterity. Methods: Eighteen children with ataxia were randomly divided into intervention and control groups. Participants in the intervention group were asked to follow a 12-week motor activity program at home using the Niurion® exergame. Blind assessments of participants’ ataxic symptoms, dominant and non-dominant hand dexterity, and walking ability were conducted. Results: On average, the participants performed the intervention for 61.5% of the expected time. At the end of the training, participants in the intervention group showed improved hand dexterity that worsened in the control group. Conclusion: The presented exergame enhanced the participants’ hand dexterity. However, there is a need for exergames capable of maintaining a high level of players’ motivation in playing. It is advisable to plan a mixed intervention to take care of the multiple aspects of the disorder.

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“…The identification of the pathophysiological background prompted several attempts to treat ARCA2 with prolonged CoQ10 oral supplementation which seems to operate as a systemic antioxidant or bioenergetics support (Hargreaves 2014) rather than a targeted intervention for cerebellar dysfunction. However, overall efficacy needs to be validated into dedicated clinical trials (Schirinzi et al 2019).…”

Section: Autosomal Recessive Cerebellar Ataxia Type 2 (Arca-2)mentioning

confidence: 99%

Autosomal Recessive Cerebellar Ataxias

Salem

Noreau

Bouchard

et al. 2021

Handbook of the Cerebellum and Cerebellar Disorders

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The hereditary ataxias represent a mixed group of conditions that can be classified according to their mode of inheritance into autosomal dominant, autosomal recessive, X-linked, and mitochondrial ataxias. The group of autosomal "recessive ataxias" alone comprises a very heterogeneous group of disorders for which mutations in several causative genes have been identified. This chapter will review autosomal recessive ataxias with an emphasis on those that are best defined: Friedreich's ataxia (FA), autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), autosomal recessive cerebellar ataxia type 1 (ARCA-1) and type 2 (ARCA-2), ataxia with oculomotor apraxia type 1 (AOA-1) and type 2 (AOA-2), and ataxia with vitamin E deficiency (AVED). For each disorder an overview of the clinical signs, the causative gene, as well as any clues about the disease pathogenesis and currently available or potential treatment will be presented. KeywordsFriedreich's ataxia • Autosomal recessive spastic ataxia of Charlevoix-Saguenay • Autosomal recessive cerebellar ataxia type 1 • Autosomal recessive cerebellar ataxia type 2 • Ataxia with oculomotor apraxia type 1 • Ataxia with oculomotor apraxia type 2 (AOA-2) • Ataxia with vitamin E deficiency

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One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2)

Cited by 16 publications

References 11 publications

Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review

Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review

Upper Body Physical Rehabilitation for Children with Ataxia through IMU-Based Exergame

Autosomal Recessive Cerebellar Ataxias

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