Research & Literature

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.

Barca E, Musumeci O, Montagnese F, et al.

Clinical genetics 2016; (90(2)):156-60 doi:10.1111/cge.12742.

AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation.

Cullen JK, Abdul Murad N, Yeo A, et al.

PloS one 2016; (11(2)):e0148213 doi:10.1371/journal.pone.0148213.

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Hikmat O, Tzoulis C, Knappskog PM, et al.

European journal of neurology 2016; (23(7)):1188-94 doi:10.1111/ene.13003.

Mitochondrial Cardiomyopathies.

El-Hattab AW, Scaglia F

Frontiers in cardiovascular medicine 2016; (3()):25 doi:10.3389/fcvm.2016.00025.

Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).

Somanadhan S, Larkin PJ

Orphanet journal of rare diseases 2016; (11(1)):138 doi:10.1186/s13023-016-0521-0.

Biochemical Assessment of Coenzyme Q10 Deficiency.

Rodríguez-Aguilera JC, Cortés AB, Fernández-Ayala DJ, Navas P

Journal of clinical medicine 2017; (6(3)) doi:10.3390/jcm6030027.

Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.

Saghazadeh A, Hafizi S, Hosseini F, et al.

Acta medica Iranica 2017; (55(2)):128-130.

Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.

Romero-Moya D, Santos-Ocaña C, Castaño J, et al.

Stem cells (Dayton, Ohio) 2017; (35(7)):1687-1703 doi:10.1002/stem.2634.

Dysphagia in Friedreich Ataxia.

Keage MJ, Delatycki MB, Gupta I, et al.

Dysphagia 2017; (32(5)):626-635 doi:10.1007/s00455-017-9804-4.

Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A).

Vogel AP, Rommel N, Oettinger A, et al.

Mitochondrion 2017; (37()):1-7 doi:10.1016/j.mito.2017.06.002.

International consensus (ICON) on assessment of oropharyngeal dysphagia.

Espitalier F, Fanous A, Aviv J, et al.

European annals of otorhinolaryngology, head and neck diseases 2018; (135(1S)):S17-S21 doi:10.1016/j.anorl.2017.12.009.

Molecular genetic testing for hereditary ataxia: What every neurologist should know.

Wallace SE, Bird TD

Neurology. Clinical practice 2018; (8(1)):27-32 doi:10.1212/CPJ.0000000000000421.

The dilemma of diagnosing coenzyme Q10 deficiency in muscle.

Louw R, Smuts I, Wilsenach KL, et al.

Molecular genetics and metabolism 2018; (125(1-2)):38-43 doi:10.1016/j.ymgme.2018.02.015.

Molecular diagnosis of coenzyme Q10 deficiency: an update.

Yubero D, Montero R, Santos-Ocaña C, et al.

Expert review of molecular diagnostics 2018; (18(6)):491-498 doi:10.1080/14737159.2018.1478290.

CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway.

Kleiner G, Barca E, Ziosi M, et al.

Biochimica et biophysica acta. Molecular basis of disease 2018; (1864(11)):3708-3722 doi:10.1016/j.bbadis.2018.09.002.

[An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society].

Guo Y, Hong SQ, Jiang L

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(11)):887-892.

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Shalata A, Edery M, Habib C, et al.

Neurochemical research 2019; (44(10)):2372-2384 doi:10.1007/s11064-019-02786-5.

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Galosi S, Barca E, Carrozzo R, et al.

Parkinsonism & related disorders 2019; (68()):8-16 doi:10.1016/j.parkreldis.2019.09.015.

Combining Ubiquinol With a Statin May Benefit Hypercholesterolaemic Patients With Chronic Heart Failure.

Kloer HU, Belardinelli R, Ruchong O, Rosenfeldt F

Heart, lung & circulation 2020; (29(2)):188-195 doi:10.1016/j.hlc.2019.08.017.

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

Schirinzi T, Favetta M, Romano A, et al.

Cerebellum & ataxias 2019; (6()):15 doi:10.1186/s40673-019-0109-2.

Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.

Traschütz A, Schirinzi T, Laugwitz L, et al.

Annals of neurology 2020; (88(2)):251-263 doi:10.1002/ana.25751.

Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2.

Vogel AP, Magee M, Torres-Vega R, et al.

Neurology 2020; (95(2)):e194-e205 doi:10.1212/WNL.0000000000009776.

Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.

Cotta A, Alston CL, Baptista-Junior S, et al.

JIMD reports 2020; (54(1)):45-53 doi:10.1002/jmd2.12107.

Primary coenzyme Q10 deficiency due to COQ8A gene mutations.

Zhang L, Ashizawa T, Peng D

Molecular genetics & genomic medicine 2020; (8(10)):e1420 doi:10.1002/mgg3.1420.

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

Xiao C, Astiazaran-Symonds E, Basu S, et al.

American journal of medical genetics. Part A 2020; (182(10)):2426-2431 doi:10.1002/ajmg.a.61786.

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.

Maalej M, Kammoun F, Kharrat M, et al.

Acta neurologica Belgica 2021; (121(6)):1733-1740 doi:10.1007/s13760-020-01490-4.

Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.

Schijvens AM, van de Kar NC, Bootsma-Robroeks CM, et al.

Kidney international reports 2020; (5(12)):2146-2159 doi:10.1016/j.ekir.2020.09.044.

Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.

Tan W, Airik R

Pediatric nephrology (Berlin, Germany) 2021; (36(11)):3515-3527 doi:10.1007/s00467-020-04914-8.

A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease.

Arntsen V, Sand T, Hikmat O, et al.

Epileptic disorders : international epilepsy journal with videotape 2021; (23(2)):281-290 doi:10.1684/epd.2021.1269.

Home Aerobic Training for Cerebellar Degenerative Diseases: a Randomized Controlled Trial.

Barbuto S, Kuo SH, Winterbottom L, et al.

Cerebellum (London, England) 2023; (22(2)):272-281 doi:10.1007/s12311-022-01394-4.

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.

Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, et al.

Kidney international 2022; (102(3)):592-603 doi:10.1016/j.kint.2022.02.040.

Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.

Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, et al.

Kidney international 2022; (102(3)):604-612 doi:10.1016/j.kint.2022.04.029.

The diagnostic odyssey: insights from parents of children living with an undiagnosed condition.

Bauskis A, Strange C, Molster C, Fisher C

Orphanet journal of rare diseases 2022; (17(1)):233 doi:10.1186/s13023-022-02358-x.

Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene.

Değerliyurt A, Gülleroğlu NB, Kibar Gül AE

The International journal of neuroscience 2024; (134(2)):148-152 doi:10.1080/00207454.2022.2095269.

[Clinical case of MELAS syndrom].

Goldobin VV, Klocheva EG, Afanasyeva MY, Tertyshnaya NM

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2022; (122(6)):152-158 doi:10.17116/jnevro2022122061152.

The efficacy of coenzyme Q10 treatment in alleviating the symptoms of primary coenzyme Q10 deficiency: A systematic review.

Wang Y, Hekimi S

Journal of cellular and molecular medicine 2022; (26(17)):4635-4644 doi:10.1111/jcmm.17488.

Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.

Martinussen J, Chalk M, Elliott J, Gallacher L

Journal of personalized medicine 2022; (12(8)) doi:10.3390/jpm12081250.

Carer burden in rare inherited diseases: a literature review and conceptual model.

Sandilands K, Williams A, Rylands AJ

Orphanet journal of rare diseases 2022; (17(1)):428 doi:10.1186/s13023-022-02561-w.

Mitochondrial dysfunction and calcium dysregulation in COQ8A-ataxia Purkinje neurons are rescued by CoQ10 treatment.

Manolaras I, Del Bondio A, Griso O, et al.

Brain : a journal of neurology 2023; (146(9)):3836-3850 doi:10.1093/brain/awad099.

Sequencing through hyperexpanded Friedreich's ataxia-GAA repeats by nanopore technology: implications in genotype-phenotype correlation.

Uppili B, Sharma P, Ahmad I, et al.

Brain communications 2023; (5(2)):fcad020 doi:10.1093/braincomms/fcad020.

Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.

Monfrini E, Pesini A, Biella F, et al.

Neurology. Genetics 2023; (9(2)):e200058 doi:10.1212/NXG.0000000000200058.

Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.

Traschütz A, Adarmes-Gómez AD, Anheim M, et al.

Annals of neurology 2023; (94(3)):470-485 doi:10.1002/ana.26712.

Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report.

Haji S, Miyamoto R, Morino H, et al.

Neurology. Genetics 2023; (9(3)):e200070 doi:10.1212/NXG.0000000000200070.

Primary Coenzyme Q10 Deficiency: An Update.

Mantle D, Millichap L, Castro-Marrero J, Hargreaves IP

Antioxidants (Basel, Switzerland) 2023; (12(8)) doi:10.3390/antiox12081652.

Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.

Chappell M, Parikh S, Reynolds E

JIMD reports 2023; (64(5)):375-386 doi:10.1002/jmd2.12385.

Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.

Wang J, Lin Y, Xu Z, et al.

Cerebellum (London, England) 2024; (23(5)):1824-1838 doi:10.1007/s12311-024-01671-4.

Primary Coenzyme Q10 Deficiency-Related Ataxias.

Lopriore P, Vista M, Tessa A, et al.

Journal of clinical medicine 2024; (13(8)) doi:10.3390/jcm13082391.

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.

Rudaks LI, Yeow D, Ng K, et al.

Cerebellum (London, England) 2024; (23(5)):2152-2168 doi:10.1007/s12311-024-01703-z.

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.

Heath O, Hammerl E, Spitzinger A, Wortmann SB

Journal of personalized medicine 2024; (14(5)) doi:10.3390/jpm14050523.

Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU.

LoVoi J, Thai DQ, Han J, et al.

Neurology. Genetics 2024; (10(5)):e200184 doi:10.1212/NXG.0000000000200184.

Longitudinal Analysis of Natural History Progression of Rare and Ultra-Rare Cerebellar Ataxias Using Item Response Theory.

Hamdan A, Hendrickx N, Hooker AC, et al.

Clinical pharmacology and therapeutics 2024; (116(6)):1593-1605 doi:10.1002/cpt.3466.

Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial.

Milne SC, Roberts M, Williams S, et al.

Annals of neurology 2025; (97(3)):409-424 doi:10.1002/ana.27130.

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders.

Wahedi A, Sudhakar S, Lam A, et al.

Neurology. Genetics 2024; (10(6)):e200209 doi:10.1212/NXG.0000000000200209.

Adult-onset status epilepticus in patients with COQ8A coenzyme Q10 deficiency: A case series.

Tsalouchidou PE, Juenemann C, Hahn W, et al.

Epilepsy & behavior reports 2024; (28()):100716 doi:10.1016/j.ebr.2024.100716.

Effects of physiotherapy on degenerative cerebellar ataxia: a systematic review and meta-analysis.

Matsugi A, Bando K, Kondo Y, et al.

Frontiers in neurology 2024; (15()):1491142 doi:10.3389/fneur.2024.1491142.

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Rocca C, Murphy D, Clarkson C, et al.

Genes 2025; (16(2)) doi:10.3390/genes16020169.

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Yau WY, Sullivan R, O'Connor E, et al.

Brain communications 2025; (7(3)):fcaf188 doi:10.1093/braincomms/fcaf188.

The impact of leukodystrophies on parents' lives.

Zampini L, Cordolcini L, Draghi L, et al.

Journal of pediatric psychology 2025; (50(12)):1091-1098 doi:10.1093/jpepsy/jsaf072.

Home Training for Cerebellar Ataxias: A Randomized Clinical Trial.

Barbuto S, Lee S, Stein J, et al.

JAMA neurology 2025; (82(11)):1162-1170 doi:10.1001/jamaneurol.2025.3421.

A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.

Kalampokini S, Keramidiotis I, Ravanidis S, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2025; (15()):55 doi:10.5334/tohm.1027.

Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4.

Wang D, Zhang G, Fang X, et al.

Frontiers in genetics 2025; (16()):1682085 doi:10.3389/fgene.2025.1682085.

Intermittent ketogenic fasting with medium-chain triglycerides improves ataxia in COQ8A-related coenzyme Q10 deficiency: A case report.

Hahn W, Erffmeier K, Schulze M, et al.

Molecular genetics and metabolism reports 2026; (46()):101296 doi:10.1016/j.ymgmr.2026.101296.

Mitochondrial Dysfunctions in Human Primary Coenzyme Q10 Deficiencies.

Fontaine F, Pénicaud R, Allouche S

Biomolecules 2026; (16(2)) doi:10.3390/biom16020302.

Coenzyme Q10 Supplementation in a Child with Biallelic COQ8A Variants: A Case Report.

Motoi H, Watanabe R, Shirai A, et al.

Case reports in neurology 2026; (18(1)):121-127 doi:10.1159/000550495.

Identification of International Classification of Functioning, Disability and Health categories in a multifaceted rehabilitation program for degenerative cerebellar ataxia: a descriptive analysis of real-world clinical practice.

Hiramatsu Y, Fujimoto H, Otomune H, et al.

Disability and rehabilitation 2026; (48(21)):6961-6979 doi:10.1080/09638288.2026.2646108.

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Mancuso M, Bellusci M, Carelli V, et al.

European journal of neurology 2026; (33(4)):e70588 doi:10.1111/ene.70588.

Bypass Treatments for Primary Coenzyme Q10 Deficiency: An Update.

Mantle D, Cufflin N, Hargreaves IP

International journal of molecular sciences 2026; (27(8)) doi:10.3390/ijms27083526.

Expanding the Clinical and Genetic Landscape of UQCRC2-related Mitochondrial Complex III Deficiency: A Case Report and Literature Review.

Bindi V, Crespo C, García F, et al.

Current pediatric reviews 2026; doi:10.2174/0115733963454034260430145544.

COQ2-Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review.

Yue Y, Zhao F, Chen Q

Molecular genetics & genomic medicine 2026; (14(7)):e70221 doi:10.1002/mgg3.70221.