Fragile X syndrome update

Two related papers in ‘The Neuron’ report new insights into the pathology underlying a recently identified neurological disorder that strikes middle-aged adults that is caused by alterations in the same gene that causes fragile X syndrome.

Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.

Fragile X Syndrome (FXS) is the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or “autistic-like” behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.

Fragile X associated tremor/ataxia syndrome (FXTAS) is a condition which affects balance, tremor and memory in some older male gene carriers. These age 50+ men exhibit Parkinsonian type symptoms and a marked reduction in memory and cognitive abilities.

Fragile X associated  premature ovarian failure (POF) a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.

The reports “theorize that the mutation causing FXTAS likely triggers a failure of the mechanism for transporting the genetic material ‘messenger RNA’ within neurons to protein-making sites. The result is a lethal clogging of brain cells”.  Unlike Fragile X mutation which causes a total loss of the FMR1 gene’s function, the FXTAS mutation produces more subtle changes.

http://www.neuron.org   Sofola et al and Jin et al

This piece of research has interested me as one of my male friends now in his 50’s is exhibiting Parkinsonian type symptoms but has been told it’s not Parkinson’s.  There is autism in his family … I just wonder what his fragile X test result would show?

Penny