ubiquinone and Muscle-Spasticity

ubiquinone has been researched along with Muscle-Spasticity* in 2 studies

Other Studies

2 other study(ies) available for ubiquinone and Muscle-Spasticity

Article	Year
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease. Movement disorders : official journal of the Movement Disorder Society, 2022, Volume: 37, Issue:10 COQ4 codes for a mitochondrial protein required for coenzyme Q. In-house exome and genome datasets (n = 14,303) were screened for patients with bi-allelic variants in COQ4. Work-up included clinical characterization and functional studies in patient-derived cell lines.. Six different COQ4 variants, three of them novel, were identified in six adult patients from four different families. Three patients had a phenotype of hereditary spastic paraparesis, two sisters showed a predominant cerebellar ataxia, and one patient had mild signs of both. Studies in patient-derived fibroblast lines revealed significantly reduced amounts of COQ4 protein, decreased CoQ. We report bi-allelic variants in COQ4 causing an adult-onset ataxia-spasticity spectrum phenotype and a disease course much milder than previously reported. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. Topics: Ataxia; Cerebellar Ataxia; Humans; Mitochondrial Diseases; Mitochondrial Proteins; Muscle Spasticity; Muscle Weakness; Mutation; Ubiquinone	2022
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. European journal of pediatrics, 1986, Volume: 144, Issue:5 A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder. Topics: Acidosis; Adenosine Triphosphate; Brain Diseases; Epilepsy; Humans; Infant; Intellectual Disability; Lactates; Male; Mitochondria, Muscle; Muscle Spasticity; Myoclonus; NAD; Nystagmus, Pathologic; Oxidation-Reduction; Pyruvates; Ubiquinone	1986

Article

Year

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.

Movement disorders : official journal of the Movement Disorder Society, 2022, Volume: 37, Issue:10

COQ4 codes for a mitochondrial protein required for coenzyme Q. In-house exome and genome datasets (n = 14,303) were screened for patients with bi-allelic variants in COQ4. Work-up included clinical characterization and functional studies in patient-derived cell lines.. Six different COQ4 variants, three of them novel, were identified in six adult patients from four different families. Three patients had a phenotype of hereditary spastic paraparesis, two sisters showed a predominant cerebellar ataxia, and one patient had mild signs of both. Studies in patient-derived fibroblast lines revealed significantly reduced amounts of COQ4 protein, decreased CoQ. We report bi-allelic variants in COQ4 causing an adult-onset ataxia-spasticity spectrum phenotype and a disease course much milder than previously reported. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Topics: Ataxia; Cerebellar Ataxia; Humans; Mitochondrial Diseases; Mitochondrial Proteins; Muscle Spasticity; Muscle Weakness; Mutation; Ubiquinone

2022

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

European journal of pediatrics, 1986, Volume: 144, Issue:5

A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.

Topics: Acidosis; Adenosine Triphosphate; Brain Diseases; Epilepsy; Humans; Infant; Intellectual Disability; Lactates; Male; Mitochondria, Muscle; Muscle Spasticity; Myoclonus; NAD; Nystagmus, Pathologic; Oxidation-Reduction; Pyruvates; Ubiquinone

1986