POLG gene mutation. Clinico-neuropathological study

A clinico-neuropathological study on brain death.

A clinico-neuropathological study was conducted on 60 cases of brain death, 36 males and 24 females, ranging in age from 11 to 81 years, the average being 49.4 years. Of these, 29 patients died of cerebrovascular disease. The average duration of brain death was 99 hours. The mean weight of the brain was 1466 g. Neuropathological findings were brain edema, congestion, herniation and various suba...

Haemangioblastoma of the posterior cranial fossa: clinico-neuropathological study.

Haemangioblastoma (HBs) may occur sporadically in the central nervous system, or in association with von Hippel-Lindau (VHL) disease. Haemangioblastoma of the central nervous system is often seen in the posterior cranial fossa. VHL is an autosomaly dominant disorder. In sporadic HBs tumours, VHL alleles are reported to be inactive in up to 50% of tumours. Five patients with tumours of the poste...

A novel POLG gene mutation in a patient with SANDO.

The human mitochondrial genome is replicated by DNA polymerase γ, which is encoded by polymerase γ gene (POLG1) on chromosome 15q25. Patients with POLG1 mutations usually present as Alpers' syndrome or progressive external ophthalmoplegia. Our patient was a 48-year old woman with sensory ataxic neuropathy, dysarthria, ophthalmoplegia, and dysphagia. Sequence analysis revealed that she has two h...

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological ...

cardiomyopathy: association with a novel POLG mutation?