Adult-onset Kufs disease.

A young man from Pakistan had his first-ever tonic-clonic seizure while playing cricket. Since age 12 years, he had reported involuntary jerks and tremulousness, sometimes with falls, particularly with bright lights. Family history included a brother who developed seizures with myoclonus in his mid-20s and parental consanguinity. Developmental history was normal. Examination identified cognitive impairment with action myoclonus. His clinical presentation raised suspicion of a progressive myoclonus epilepsy. MR scan of the brain showed white matter changes suggesting leucodystrophy with cortical atrophy. Electroencephalogram showed generalised epileptiform abnormalities with photoparoxysmal responses, including at low frequencies (1 Hz). Cortical hyperexcitability was confirmed with giant median somatosensory evoked potentials and long loop reflexes at rest. Multichannel electromyography showed action myoclonus with variable synchronous and asynchronous agonist and antagonist muscle activation with short-burst duration of 25-75 ms, and jerk-locked back-averaging showed premyoclonic potentials consistent with cortical myoclonus. Genetic sequencing identified a homozygous missense variant in the CLN6 gene (c.768C>G p.(Asp256Glu), confirming Kufs disease type A.

Multibacillary leprosy with an incubation period exceeding 50 years.

Leprosy is a chronic granulomatous infection predominantly involving the skin and peripheral nervous system. The condition is caused by infection with the obligate intracellular bacillus Mycobacterium leprae and the clinical phenotype is largely dependent on the host immune response to the organism. Transmission is suspected to occur via respiratory secretions with infection usually requiring prolonged periods of contact. The incubation period is highly variable with disease manifestations appearing up to several decades after the initial exposure. The disease can be broadly divided into 'paucibacillary' and 'multibacillary', and treatment with multidrug therapy including dapsone, clofazimine and rifampicin offers high rates of cure. Here, we report of a case of leprosy with a suspected incubation period in excess of 50 years following occupational exposure in rural Australia. To our knowledge, this incubation period is the longest reported to date.

The distribution of the proteoglycan FORSE-1 in the developing mouse central nervous system.

Glycosylation is a major post-translational modification in which a carbohydrate known as a glycan is enzymatically attached to target proteins which regulate protein folding and stability. Glycans are strongly expressed in the developing nervous system where they play multiple roles during development. The importance of these glycan epitopes in neural development is highlighted by a group of conditions known as congenital disorders of glycosylation which lead to psychomotor difficulties, mental retardation, lissencephaly, microencephaly and epilepsy. One of these glycan epitopes, known as Lewis X, is recognised by the FORSE-1 antibody and is regionally expressed in the developing nervous system. In this study, we report the regional and temporal expression patterns of FORSE-1 immunolabelling during the periods of neurogenesis, gliogenesis and axonogenesis in developing mouse nervous system. We demonstrate the localisation of FORSE-1 on subsets of neuroepithelial cells and radial glial cells, and in compartments corresponding to axon tract formation. These spatial, temporal and regional expression patterns are suggestive of roles in the determination of different cell lineages and in the patterning of white matter during development, and help provide insights into the neuroanatomical regions affected by congenital disorders of glycosylation.

The Optimal Pain Management Approach for a Laboring Patient: A Review of Current Literature.

There is a general agreement that a patient in labor should be given the option to have an epidural block for pain management. Despite this consensus, there are differences in practice patterns as to when to initiate an epidural and how to minimize its impact on the duration and outcome of a patient's labor. A review of the literature suggests epidural analgesia does prolong stages one and two of labor, but not significantly. Cesarean delivery rates are not affected by the early initiation of epidural analgesia. The use of various adjuvants such as opioids, clonidine, and neostigmine in conjunction with local anesthetics solution can significantly reduce the severity of motor blockade and the need for assisted vaginal delivery.

Towards an understanding of semaphorin signalling in the spinal cord.

Semaphorins are a large family of proteins that are classically associated with axon guidance. These proteins and their interacting partners, the neuropilins and plexins are now known to be key mediators in a variety of processes throughout the nervous system ranging from synaptic refinement to the correct positioning of neuronal and glial cell bodies. Recently, much attention has been given to the roles semaphorins play in other body tissues including the immune and vascular systems. This review wishes to draw attention back to the nervous system, specifically focusing on the role of semaphorins in the development of the spinal cord and their proposed roles in the adult. In addition, their functions in spinal cord injury at the glial scar are also discussed.