The XXXXY syndrome: a new case with talamic lesion

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

Overview

Overview

The thalamus, often called “the gateway to the cerebral cortex,” is vital in processing and directing sensory and motor signals throughout the brain. Almost all inputs destined for the cerebral cortex, except for olfactory signals, are relayed through the thalamus. The thalamus is  a sophisticated relay station, channeling information from various brain regions to the cerebral cortex, as well as a filter, prioritizing certain signals over others based on current physiological...