BACKGROUND: Most clinical data for multiple sclerosis are hospital based-that is, derived from patients referred to clinics specialising in the disease. OBJECTIVES: To present data derived from two population based multiple sclerosis populations, an incidence cohort and a prevalence population, from Västerbotten County, northern Sweden. METHODS: The two populations were identified from multiple sources, and case ascertainment was assured through a personal clinical review, including interviews and examination of the patients. RESULTS: Characteristics at onset for the different clinical subtypes of multiple sclerosis are presented, including the clinical spectrum of the first attack, the anatomical correlation between the first and second attacks, sex distribution, and disability distribution. CONCLUSIONS: Based on the comparison of present and earlier natural history data, multiple sclerosis appears to be a slightly more benign disease than previously recognised.
Clinical and histological study of 8 cases of Vilyui encephalomyelitis (VEM), characterized by chronic and acute course has shown that all the features of local non-purulent encephalomyelitis with marked dystrophic and atrophic changes of neural tissue were characteristic of VEM. Immunomorphological reaction that manifested as perivascular and membrane lymphoplasmacytic infiltrations was observed in patients with a more acute VEM course or with exacerbation of chronic VEM. Hydrocephalus is considered as a serious aggravating factor that favours atrophic nervous changes during protracted and chronic VEM course.
In May-September, 1975, an outbreak of epidemic disease clinically and pathomorphologically simulating nearly all known forms of poliomyelitis occurred predominantly among young infants in Bulgaria. Most cases presented benign aseptic meningitis, sometimes with a short period of general cerebra- symptoms. Paralytic forms, such as bulbar polioencephalitis, anterior poliomyelitis, isolated pareses of the facial nerve, occasional cases of encephalomyocarditis, etc., were observed in about 21% of all cases. Over one-fourth of the paralytic cases with bulbar symptoms ended fatally. In March, 1976 another sporadic fatal case of this disease was examined. No new cases occurred in 1977. Histopathological examinations in all fatal cases regularly revealed lesions in the grey matter of the medulla and spinal cord typical of acute anterior poliomyelitis and bulbar polioencephalitis, with some peculiar features of localization and depth of the involvement of the brain stem. The similarity to poliomyelitis and precariously rapid increase in the incidence led to the decision to urgently vaccinate the entire human population with Sabin's live poliovirus vaccine simultaneously in the whole country in order to produce interference with the circulating agent. This aim appeared to have been achieved partially because soon the number of new cases of the disease began to decrease; however, no sharp and complete break in the curve of the incidence occurred. By the time of mass vaccination, the results of virological examinations started before were not yet available. Later, comprehensive complete evidence was obtained that over 25 fatal and many other typical cases of the disease were associated with an enterovirus proved to be antigenically related to enterovirus 71. The diseases in Bulgaria, 1975, differ considerably in the frequency of paralytic forms and in severity from the epidemics caused by enterovirus 71 in Sweden, 1973, Australia, 1972--1973, USA, 1969--1972, and Japan, 1972--1973.
Division of Spine, Department of Orthopaedics, University of British Columbia and the Combined Neurosurgical and Orthopaedic Spine Program, Vancouver Hospital and Health Sciences Centre, Vancouver, BC, Canada.
Retrospective observational study utilizing prospectively collected population-based data.
To describe the epidemiology and demographics of all patients with traumatic spinal cord injury (TSCI) treated at a single institution, which represents the sole referral center and specialized SCI unit for a population of 4 million people.
Although many studies report on the epidemiology of TSCI, studies in which patients are prospectively characterized in the acute setting with precise recording of their baseline neurological impairment are uncommon.
Data on all patients admitted to a level 1 trauma center with TSCI between 1995 and 2004 were prospectively collected using a customized, fully relational, locally designed, spine database.
The incidence of TSCI averaged 35.7 per million and did not change substantially during 10 years of data collection. However, the median age of TSCI patients increased from 34.5 to 45.5 years during this period. The men-to-women ratio was 4.4:1. In those older than 55 years, cervical-level injuries with incomplete American Spinal Injury Association (ASIA) Impairment Scale (AIS) scores C and D were most common, with men demonstrating predominantly lower cervical injuries and women more likely to exhibit upper cervical injuries. Increasing rates of surgical treatment during 10 years of this study (61.8%-86.4%) were not associated with improvements in mortality rate or length of hospital stay. Patients older than 75 years who presented with an acute TSCI had a mortality rate of 20% while in hospital.
The incidence of TSCI in our population has remained remarkably stable, and age-related changes mirror those in the population across 10 years. An increased tendency to surgical treatment during the 10 years of this study has not resulted in concomitant changes in patients' in-hospital mortality or length of stay.
A family with adult-onset amyotrophic lateral sclerosis (ALS) and dementia is described. The father presented with lower motor neurone disease affecting the legs. A son presented with bulbar paralysis. Neither developed dementia. A daughter presented with spastic right lower limb weakness. Two years later, she developed a rapidly progressive mental disorder. Her cortical pathology had a distinctive fronto-temporal distribution. The rarity of published reports on ALS with dementia in families outside the Western Pacific and the factor of parental consanguinity conspired to make genetic counseling for this family difficult.
Peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN) is a severe sensorimotor neuropathy associated with mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. ACCPN is transmitted in an autosomal recessive fashion and is found at a high frequency in the province of Quebec, Canada. ACCPN has been previously mapped to chromosome 15q. The gene SLC12A6 (solute carrier family 12, member 6), which encodes the K+-Cl- transporter KCC3 and maps within the ACCPN candidate region, was screened for mutations in individuals with ACCPN. Four distinct protein-truncating mutations were found: two in the French Canadian population and two in non-French Canadian families. The functional consequence of the predominant French Canadian mutation (2436delG, Thr813fsX813) was examined by heterologous expression of wildtype and mutant KCC3 in Xenopus laevis oocytes; the truncated mutant is appropriately glycosylated and expressed at the cellular membrane, where it is non-functional. Mice generated with a targeted deletion of Slc12a6 have a locomotor deficit, peripheral neuropathy and a sensorimotor gating deficit, similar to the human disease. Our findings identify mutations in SLC12A6 as the genetic lesion underlying ACCPN and suggest a critical role for SLC12A6 in the development and maintenance of the nervous system.
Fifteen infants (11 families) with lethal arthrogryposis and anterior horn motor neuron loss are described. The clinical presentation was the fetal akinesia deformation sequence (FADS) with multiple contractures and facial anomalies. At autopsy neurogenic muscular atrophy was present in all infants. The spinal cord showed a paucity of anterior horn motor neurons in the 12 infants studied. Both male and female infants were affected. Nine cases were sporadic, whereas in two families there were three affected cases. Consanguinity between the parents was reported in one family with one affected child. This and the recurrence of the condition speak for autosomal recessive inheritance. Detailed neuropathological examination and documentation of the clinical features are needed for a better delineation of and genetic counseling for perinatally lethal arthrogryposis.
A young man developed virologically proved hydrophobic rabies three months after being scratched on the cheek by a bat in Northern Alberta. He became comatose after 8 days and died 5 weeks after vigorous therapy with immune globulin, interferon and Vidarabine, and excellent maintenance of oxygenation. Electroencephalographic deterioration was gradual. At postmortem examination, the brain showed widespread loss of nerve cells, mild diffuse inflammatory changes and no Negri bodies. The lesions of massive laminar necrosis of the cerebral cortex, total loss of Purkinje cells with preservation of the granule cell layer, and severe softening of the amygdala are attributed to direct viral action rather than to anoxia or brain swelling with respirator brain.
Morphologic changes in the spine have been investigated in patients with spinal injuries who died in hospital. The incidence of injuries has been evaluated as 9.3% of mechanical injuries. Purposeful search for possible injuries increased the rate of detection of injuries of the spine and the cord. Spinal cord can be impaired without involving the osseous formations and spinal ligaments. Edema of the cord tissue develops during the early period of injury and prevents the detection of injuries, persisting for a long time after the injury. Edemas are detected even in subjects who died at the site of accident.