Posts tagged Disorder
Genetic Disorders Go B/Hollywood
Dec 1st
Remember Brad Pitt as Benjamin Button? Benjamin’s disorder, that had him being born looking like an 80-year-old man and “reverse aging” to pass away as a baby? Well, while I still am not aware of a real disorder that causes this kind of a phenomenon, there is a disorder that indeed makes people age much faster than normal: Hutchinson-Gilford Progeria Syndrome (Progeria for short), which is about to be depicted in a movie of its own.
Progeria is a very rare, genetic disorder that afflicts roughly one in 5 million people. It is caused by a mutation in the LaminA gene More >
Trembling Hands and … Genes?
Oct 23rd
Fragile X Tremor/Ataxia Syndrome (FXTAS) is among the most prevalent heritable neurodegenerative disorders. Its symptoms usually develop in men 50 years of age or older and include tremors in arms and hands, balance problems (ataxia), numbness in the extremities, mood instability, short-term memory loss, and gradual intellectual decline. The prevalence of FXTAS is about 2-5 persons per 10,000 in the general population.
The underlying cause for FXTAS is a mutation in the gene for Fragile X Mental Retardation Protein (FMRP), which is located on the X-chromosome; its protein product, Pur-α is essential for normal neural function. Scientists have recently determined the three-dimensional structure More >
