Personalized Medicine in Frontotemporal Dementia and its variants

Frontotemporal dementia (FTD) is a progressive neurodegenerative disorder; with a gradual onset and progression of changes in behavior or language deficits. It is denoted to somewhat different clinical pictures including behavioral and personality changes, language difficulties and combination od theses symptoms with other neurological problems. In general FTD is now classified into several types including behavioral variant of FTD (bvFTD), semantic variant primary progressive aphasia (PPA), nonfluent agrammatic variant PPA, and FTD associated with motor neuron disease (FTD-MND). The clinical varieties across the diagnosis of FTD are attributed to differences in the brain regions affected by FTD pathology which can cause degeneration of frontal and/or temporal lobes. Involvement of frontal lobe may develops symptoms such as behavioral Disinhibition, apathy or inertia, stereotyped or compulsive behaviors and executive deficits. Degeneration o temporal lobes lead to difficulty with language and hyperorality or dietary change.Approximately 40 percent of FTD have a genetic based with autosomal dominant pattern of inheritance. Besides the major differences mentioned above, some types of gene mutations leading to FTD cause atrophy in especial regions of cerebral cortex. For instance, C9ORF72 expanded repeats lead to predominantly atrophy in the frontal lobes and some atrophy in the anterior temporal lobes, parietal lobes, occipital lobes, and cerebellum and thalamus. The atrophy in MAPT mutations predominantly involves the anteromedial temporal lobes and mutation in GRN gene which alters the progranulin protein lead to temporal, insular, and parietal lobe atrophy.New progresses in genetic studies of FTD variants may enhance our knowlelge about diseases with frontotemporal degeneration and in the future, clinicians will need to know the genetic mutations occurred in every patient for proper treatment

کلیدواژه ها:

Personalized Medicine ، Frontotemporal Dementia ، Behavioral variant of FTD ، Primary Progressive Aphasia ، Gene Mutation