The turnover of 125I-labeled low density lipoprotein (LDL) and the total body balance of cholestrol were studied in a 6-yr-old girl with the homozygous form of familial hypercholesterolemia (FH) before and after the surgical creation of an end-to-side portacaval shunt. The results were compared with those of similar studies simultaneously performed in untreated patients with the heterozygous fo...

Glutamate receptors may play a critical role in the refinement of developing synapses. The lateral superior olivary nucleus (LSO)-medial nucleus of trapezoid body (MNTB) synaptic transmission in the mammalian auditory brain stem mediate many excitatory transmitters such as glutamate, which is a useful model to study excitatory synaptic development. Hearing deficits are often accompanied by chan...

OBJECTIVE To describe a case of early-onset Alzheimer's disease (AD) in an apolipoprotein (Apo) ε2/ε2 homozygote. BACKGROUND Apo ε2/ε2 is the rarest of the ApoE genotypes, representing only 1.4% of the population. Cognitive decline in ApoE ε2 homozygotes has rarely been reported. CASE REPORT/METHODS We report a 58-year-old Apo ε2/ε2 female who meets clinical criteria for probable AD as conf...

A child with developmental and language delay was found to be homozygous for a pericentric inversion of chromosome 4 (inv(4) (p15 X 2q12)). Her normal mother and aunt are inversion heterozygotes. It is suggested that the phenotypic abnormalities may have resulted from damage at chromosomal breakpoints or from a position effect which is expressed only in homozygous form.

A 31-year-old woman developed disturbance of consciousness and left hemiparesis. Cerebral computed tomograms showed a low-density area in the right temporal lobe that extended to the right parietal and left frontal lobes as her clinical symptoms worsened. The diagnosis of familial variant of antithrombin III (AT-III) was based on decreased biologic activity and a normal immunologic level of AT-...

Mutations in parkin are implicated in the pathogenesis of autosomal recessive juvenile parkinsonism (AR-JP) disease. We show that homozygote Cys212Tyr parkin mutation in AR-JP patients renders lymphocytes sensitive to dopamine, iron and hydrogen peroxide stimuli. Indeed, dopamine-induced apoptosis by four alternative mechanisms converging on caspase-3 activation and apoptotic morphology: (1) NF...

The SH2D2A gene encodes a T-cell-specific adapter protein involved in the negative control of T-cell activation. The genotype GA13-16 homozygote of the SH2D2A gene promoter has been associated with the susceptibility to develop multiple sclerosis. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated neuropathy sharing several pathogenetic mechanisms with multip...

Hyperhomocysteinemia associated with methylene terahydrofolate reductase (MTHFR) mutation can be a risk factor for idiopathic cerebral venous thrombosis. We describe the first case of MTHFR 677TT homozygote with cerebral venous thrombosis and livedo reticularis. A 45-year-old man presented with seizures and mottled-like skin lesions, that were aggravated by cold temperature. Hemorrhagic infarct...

The set of possible postselection genotype frequencies in an infinite, randomly mating population is found. Geometric mean heterozygote frequency divided by geometric mean homozygote frequency equals two times the geometric mean heterozygote fitness divided by geometric mean homozygote fitness. The ratio of genotype frequencies provides a measure of genetic variation that is independent of alle...