A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.

Pathogenic mutations in the OPA1 gene can be associated with Autosomal Dominant Optic Atrophy (ADOA). In approximately 20 % of patients with OPA1 mutations, a more complex neurodegenerative disorder with extraocular manifestations, known as ADOA Plus, can arise. 12 members of a multigenerational family were assessed clinically and screened for a genetic mutation in OPA1. Eight family members displayed manifestations consistent with ADOA Plus and four did not. Affected members of the oldest available generation displayed the most severe phenotype, which included severe optic atrophy, deafness, ptosis, ophthalmoplegia, proximal myopathy, neuropathy and ataxia. The next generation was less severely affected but several members displayed manifestations only after the fifth decade. Genetic analysis revealed a heterozygous variant in the OPA1 gene (c.1053T>A, p.Asp351Glu) that segregated with disease. The affected family members described here exhibited visual loss later than is typical for OPA1-related disease, as well as later onset of other neurological abnormalities in the fifth or sixth decades of life that progressed to severe neurological disability by the seventh decade. These findings expand the clinical spectrum of OPA1-related disease associated with a novel OPA1 mutation.

Atrial fibrillation and anticoagulation in a stroke unit population.

BACKGROUND: Atrial fibrillation (AF) is an important predisposing factor for ischaemic stroke. There is evidence to suggest that even in appropriate candidates warfarin therapy is underutilized. We assessed the prevalence of AF in an Australian stroke unit to determine the degree of undertreatment at presentation. METHODS: A retrospective analysis of all patients admitted to our Stroke Unit between October 2004 and September 2006 was carried out. All patients with a diagnosis of AF, either new or old, were then selected from this group to determine the overall prevalence and anticoagulation status. Data regarding prior stroke, stroke severity and discharge anticoagulation status were also determined. RESULTS: Data from a total of 500 patients were analysed. Our results showed that AF-related strokes accounted for a large proportion (28%) of all admissions and were associated with a larger neurological deficit. Most patients (68%) with a prior diagnosis of AF without having obvious contraindications were either not anticoagulated or under-anticoagulated when presenting with an ischaemic stroke or transient ischaemic attack. CONCLUSION: Our results stress the importance of initiating and maintaining anticoagulation in patients with AF and without obvious contraindications to minimize the risk of subsequent stroke.