coenzyme-q10 and Apraxias

coenzyme-q10 has been researched along with Apraxias* in 2 studies

Other Studies

2 other study(ies) available for coenzyme-q10 and Apraxias

Article	Year
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Neurogenetics, 2011, Volume: 12, Issue:3 Ataxia with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with cerebellar ataxia and 52 patients with early-onset isolated chorea. APTX gene mutations were found in 13 ataxic patients (6%). Eleven patients were homozygous for the known p.W279X, p.W279R, and p.P206L mutations. Three novel APTX mutations were identified: c.477delC (p.I159fsX171), c.C541T (p.Q181X), and c.C916T (p.R306X). Expression of mutated proteins in lymphocytes from these patients was greatly decreased. No mutations were identified in subjects with isolated chorea. Two heterozygous APTX sequence variants (p.L248M and p.D185E) were found in six families with ataxic phenotype. Analyses of coenzyme Q10 in muscle, fibroblasts, and plasma demonstrated normal levels of coenzyme in five of six mutated subjects. The clinical phenotype was homogeneous, irrespectively of the type and location of the APTX mutation, and it was mainly characterized by early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits. Three cases had slightly raised alpha-fetoprotein. Our survey describes one of the largest series of AOA1 patients and contributes in defining clinical, molecular, and biochemical characteristics of this rare hereditary neurological condition. Topics: Abnormalities, Multiple; Adolescent; Adult; Apraxias; Ataxia; Child; Cohort Studies; DNA Mutational Analysis; DNA-Binding Proteins; Female; Gene Frequency; Genetic Association Studies; Humans; Italy; Male; Middle Aged; Mutation; Nuclear Proteins; Oculomotor Nerve; Oculomotor Nerve Diseases; Ubiquinone; Young Adult	2011
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology, 2007, Jan-23, Volume: 68, Issue:4 APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We measured muscle CoQ10 levels in six patients with AOA1 and found decreased levels in five. Patients homozygous for the W279X mutation had lower values (p = 0.003). A therapeutic trial of CoQ10 may be warranted in patients with AOA1. Topics: Adult; Apraxias; Ataxia; Coenzymes; DNA-Binding Proteins; Humans; Male; Middle Aged; Mutation; Nuclear Proteins; Oculomotor Nerve Diseases; Ubiquinone	2007

Article

Year

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Neurogenetics, 2011, Volume: 12, Issue:3

Ataxia with oculomotor apraxia type1 (AOA1, MIM 208920) is a rare autosomal recessive disease caused by mutations in the APTX gene. We screened a cohort of 204 patients with cerebellar ataxia and 52 patients with early-onset isolated chorea. APTX gene mutations were found in 13 ataxic patients (6%). Eleven patients were homozygous for the known p.W279X, p.W279R, and p.P206L mutations. Three novel APTX mutations were identified: c.477delC (p.I159fsX171), c.C541T (p.Q181X), and c.C916T (p.R306X). Expression of mutated proteins in lymphocytes from these patients was greatly decreased. No mutations were identified in subjects with isolated chorea. Two heterozygous APTX sequence variants (p.L248M and p.D185E) were found in six families with ataxic phenotype. Analyses of coenzyme Q10 in muscle, fibroblasts, and plasma demonstrated normal levels of coenzyme in five of six mutated subjects. The clinical phenotype was homogeneous, irrespectively of the type and location of the APTX mutation, and it was mainly characterized by early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits. Three cases had slightly raised alpha-fetoprotein. Our survey describes one of the largest series of AOA1 patients and contributes in defining clinical, molecular, and biochemical characteristics of this rare hereditary neurological condition.

Topics: Abnormalities, Multiple; Adolescent; Adult; Apraxias; Ataxia; Child; Cohort Studies; DNA Mutational Analysis; DNA-Binding Proteins; Female; Gene Frequency; Genetic Association Studies; Humans; Italy; Male; Middle Aged; Mutation; Nuclear Proteins; Oculomotor Nerve; Oculomotor Nerve Diseases; Ubiquinone; Young Adult

2011

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.

Neurology, 2007, Jan-23, Volume: 68, Issue:4

APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We measured muscle CoQ10 levels in six patients with AOA1 and found decreased levels in five. Patients homozygous for the W279X mutation had lower values (p = 0.003). A therapeutic trial of CoQ10 may be warranted in patients with AOA1.

Topics: Adult; Apraxias; Ataxia; Coenzymes; DNA-Binding Proteins; Humans; Male; Middle Aged; Mutation; Nuclear Proteins; Oculomotor Nerve Diseases; Ubiquinone

2007