Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients.

Background: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. Here we describe the clinical and molecular characteristics of 20 patients with disease onset after the age of 50 years (late onset-LHON).

Methods: From a cohort of 251 affected and 277 unaffected LHON carriers, we identified 20 patients with onset of visual loss after the age of 50 years.

Debate--does a reversible penumbra exist in intracerebral haemorrhage?

Intracerebral haemorrhage is a devastating condition lacking effective therapies, with an uncertain role for surgery in many. Early research described an ischaemic penumbra around the haematoma, representing an area of potential therapeutic intervention. This article discusses the evidence for and against the existence of an ischaemic penumbra in ICH, with particular reference to recent imaging studies.

Difficulties with recruiting into neurosurgical clinical trials: the Surgical Trial in IntraCerebral Haemorrhage II as an example.

Background: Spontaneous supratentorial intracerebral haemorrhage (ICH) is a devastating condition with a high morbidity and mortality, and uncertainty remains regarding the role of surgery in many cases. The Surgical Trial in IntraCerebral Haemorrhage II (STICH II) was initiated to look at subjects with superficial lobar ICH, as the initial STICH trial showed the greatest benefit from early surgery in this subgroup. Our aim was to estimate how many patients with ICH referred to the Greater Manchester Neurosciences Centre (GMNC) met the inclusion and exclusion criteria of the STICH II trial.

Posterior listhesis of a lumbar vertebra in spinal tuberculosis.

The management of spinal tuberculosis, especially in children, is controversial. In children, vertebral destruction is more severe than adults because of the cartilaginous nature of their bone. Modern chemotherapy has significantly decreased mortality in spinal tuberculosis, but morbidity remains high.

The accuracy of hospital discharge coding for hemorrhagic stroke.

Background: Hospital discharge data is used in monitoring stroke epidemiology, and ensuring adequate resource allocation to treatment programs. Previous studies have reported variable accuracy levels for such data. We present the first study assessing the accuracy of International Classification of Diseases 10th Edition (ICD-10) discharge coding for hemorrhagic stroke in England.

Gene-environment interactions in Leber hereditary optic neuropathy.

Leber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of mitochondrial DNA (mtDNA). Environmental factors are thought to precipitate the visual failure and explain the marked incomplete penetrance of LHON, but previous small studies have failed to confirm this to be the case. LHON has no treatment, so identifying environmental triggers is the key to disease prevention, whilst potentially revealing new mechanisms amenable to therapeutic manipulation.

Quality of life in patients with leber hereditary optic neuropathy.

Purpose: Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial optic neuropathy characterized by bilateral, severe loss of central vision. In this study, the first formal assessment was conducted of visual disability in affected and unaffected individuals from molecularly confirmed LHON pedigrees.

Methods: Four hundred two LHON carriers--196 affected and 206 unaffected--from 125 genealogically distinct pedigrees were prospectively interviewed using the well-validated visual function index (VF-14) questionnaire: m.