Unlike parental New Zealand Black (NZB) or New Zealand White (NZW) mice, (NZB x NZW)F1 mice exhibit a lupus-like disease characterized by IgG autoantibody production and severe immune complex-mediated nephritis. In studies of the genetic susceptibility to disease in this F1 model, the NZW MHC (H2z) has been strongly linked with the development of disease, and it was hypothesized that class II M...

The genetic forms of human transmissible spongiform encephalopathies (TSEs) are linked to mutations in the gene encoding the prion protein (PRNP) and account for 10% to 15% of human TSE cases. Some are distinct with respect to clinical signs, disease onset/duration, and diagnostic findings, whereas others closely resemble sporadic Creutzfeldt-Jakob disease (sCJD). We report a comprehensive anal...

amyotrophic lateral sclerosis (als) is a progressive neurodegenerative disorder of the motor neurons in the spinal cord, brainstem, and motor cortex. ten percent of als cases are familial with both autosomal dominant and recessive modes of inheritance. mutations in the copper/zinc superoxidedismutase-1 (sod-1) gene, the first gene linked with als, result in sod-1 gene accounting for ~ 20% of fa...

Kennedy's disease is an X-linked, neurodegenerative disorder, characterised by lower motor neuron syndrome. This report gives the clinical details of six male patients with Kennedy's disease diagnosed at Princess Margaret Hospital. Three were initially diagnosed with other neurological diseases, with the diagnosis of Kennedy's disease made after genetic testing. This hereditary disease should b...

epstein-barr virus (ebv) is a ubiquitous human -herpesvirus that infects about 95% of the adult population. the majority of primary infections occurs in early childhood and is generally subclinical; it can cause infectious mononucleosis (im), which is usually a self-limiting lymphoproliferative disorder. however, infection of ebv occasionally results in severe, often lethal diseases, which inc...

the diagnosis of celiac disease (cd) relies on the concordance of pathological, serological, genetic and clinical features. for this reason, the diagnosis of cd is often a challenge. seronegative celiac disease (sncd) is defined by the negativity of anti-tissue transglutaminase antibodies in the presence of a positive histology on duodenal biopsy samples, i. e. inflammatory infiltrate of intra-...

Amyotrophic lateral sclerosis is a fatal neurodegenerative disease of the upper and lower motor neuron of unknown etiology. Although a familial cause for this disease has been suspected early one, it is only in the past two decades that advances in modern genetics led to the identification of more than 10 genes linked to familial ALS and helped us understand some of the complex genetic and envi...

Understanding the genetic basis of hearing loss is important because almost 50% of profound hearing loss are caused by genetic factors and more than 120 independent genes have been identified. In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), classification of genetic hearing loss (syndromic versus nonsynd...