Archives of neurology · 2008
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Harrower Timothy, Stewart Joanna D, Hudson Gavin, Houlden Henry, Warner Graham, O'Donovan Dominic G, Findlay Leslie J, Taylor Robert W, De Silva Rajith, Chinnery Patrick F
Аннотация
BACKGROUND: Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge.
OBJECTIVE: To determine the cause of axonal CMT type 2 in 3 siblings.
DESIGN: Case report.
SETTING: Academic research.
PARTICIPANTS: Three siblings who subsequently developed profound cerebellar ataxia.
MAIN OUTCOME MEASURES: Muscle biopsy specimen molecular genetic analysis of the POLG1 (polymerase gamma-1) gene, as well as screening of control subjects for POLG1 sequence variants.
RESULTS: Cytochrome c oxidase deficient fibers and multiple deletions of mitochondrial DNA were detected in skeletal muscle. Three compound heterozygous substitutions were detected in POLG1.
CONCLUSION: Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in patients having axonal CMT that may be associated with tremor or ataxia.
OBJECTIVE: To determine the cause of axonal CMT type 2 in 3 siblings.
DESIGN: Case report.
SETTING: Academic research.
PARTICIPANTS: Three siblings who subsequently developed profound cerebellar ataxia.
MAIN OUTCOME MEASURES: Muscle biopsy specimen molecular genetic analysis of the POLG1 (polymerase gamma-1) gene, as well as screening of control subjects for POLG1 sequence variants.
RESULTS: Cytochrome c oxidase deficient fibers and multiple deletions of mitochondrial DNA were detected in skeletal muscle. Three compound heterozygous substitutions were detected in POLG1.
CONCLUSION: Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in patients having axonal CMT that may be associated with tremor or ataxia.
Предметные рубрики MeSH
AdultAmino Acid SubstitutionAxonsCharcot-Marie-Tooth DiseaseCytogenetic AnalysisDNA Polymerase gammaDNA, MitochondrialDNA-Directed DNA PolymeraseElectron Transport Complex IVFamilyFemaleGenes, RecessiveHeterozygoteHumansMaleMiddle AgedMuscle Fibers, SkeletalMuscle, SkeletalMutationNeurologic ExaminationPedigreePeripheral Nervous SystemSpectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationSpinocerebellar Degenerations