Early onset autosomal dominant spinocerebellar ataxia with miosis: four cases.

Previously, at least 29 different forms of autosomal dominant spinocerebellar ataxias (SCAs) have been described. We describe a family with four members through three generations with autosomal dominant ataxia in combination with miosis and hyperreflexia. This family's ataxia does not match any of the previously described SCAs and is probably a novel form of SCA.

Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease.

Aim: To study the long-term effects of enzyme replacement therapy on the neurological signs of chronic neuronopathic Gaucher disease and to evaluate some biochemical parameters for monitoring the treatment.

Methods: Eight patients from the Norrbottnian cohort were followed during 10 y of treatment. They were followed with regular clinical observations, biochemical tests and psychometric testing.

Characteristics of primary biliary cirrhosis in British Columbia's First Nations population.

Unlabelled: Primary biliary cirrhosis (PBC) is a rare, autoimmune liver disorder characterized by progressive destruction of intrahepatic bile ducts, that results in portal inflammation, scarring, cirrhosis and, eventually, liver failure. Although considered rare in Canadian populations, it is the leading indication for referral for liver transplantation in British Columbia's First Nations population. Previously, an expanded review of all cases referred to the British Columbia Transplant Society for PBC was carried out comparing the demographics of those of First Nations descent with those not of First Nations descent.

Ataxia, autism, and the cerebellum: a clinical study of 32 individuals with congenital ataxia.

The suggested link between autism and cerebellar dysfunction formed the background for a Swedish clinical study in 2001. Thirty-two children (17 females, 15 males; mean age 12y, SD 3y 10mo; range 6 to 21y) with a clinical suspicion of non-progressive congenital ataxia were examined, and parents were interviewed about the presence of neuropsychiatric problems in the child. Twelve children had simple ataxia, eight had ataxic diplegia, and 12 had 'borderline' ataxia.

The mystery of primary biliary cirrhosis in British Columbia's First Nations people.

Objectives: Primary biliary cirrhosis (PBC) is a rare chronic, progressive liver disorder leading to transplantation or death, with a known autoimmune basis. Although it has been estimated to have a prevalence of between 2-5 cases per 100,000 worldwide, it is not rare in British Columbia's (BC) First Nations (FN) peoples, where it is the leading indication for liver transplant in that population. A study of indications for liver transplant from 1989 to 1998 demonstrated that although just 3.

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.

For patients with type 1 Gaucher disease, challenges to patient care posed by clinical heterogeneity, variable progression rates, and potential permanent disability that can result from untreated or suboptimally treated hematologic, skeletal, and visceral organ involvement dictate a need for comprehensive, serial monitoring. An updated consensus on minimum recommendations for effective monitoring of all adult patients with type 1 Gaucher disease has been developed by the International Collaborative Gaucher Group (ICGG) Registry coordinators. These recommendations provide a schedule for comprehensive and reproducible evaluation and monitoring of all clinically relevant aspects of this disease.

There are two different species B adenovirus receptors: sBAR, common to species B1 and B2 adenoviruses, and sB2AR, exclusively used by species B2 adenoviruses.

Unlike most adenovirus (Ad) serotypes, the species B Ads do not use the coxsackie-adenovirus receptor as an attachment receptor. The species B attachment receptor(s) has not yet been identified and is also poorly characterized. Species B Ads can be further divided into species B1 and B2 Ads, and these display different organ tropisms, suggesting a difference in receptor usage.