THE CLINICAL SPECTRUM OF FRONTOTEMPORAL DEMENTIA
Sažetak
Abstract
Objectives: Frontotemporal dementia is the second most common form of degenerative dementia in early onset dementia (EOD) patients. The core disorders in the FTD spectrum are: behavioral variant of FTD (FTDbv) with predominant early changes in behavior, social interactions and executive dysfunction and language variants- primary progressive aphasias (PPA) where language is the primary impairment. Patients with sporadic as well as genetic forms of FTD can develop motor (before, after or at the same time with cognitive/behavioral features) symptoms of motor neuron disease or atypical parkinsonism- progressive supranuclear palsy syndrome and corticobasal syndrome which are all part of the clinical FTD spectrum. FTD is still poorly recognised entity and the heterogeneity of clinical presentations, early onset (most frequently before the age of 65) as well as overlap of early FTDbv symptoms (loss os insight, apathy, obsessive or compulsive behaviour) and psychiatric diseases often result in wrong diagnosis and presents a challenge even in tertiary refferal centres.
Aim: In this mini review paper we tried to point out the specificity of clinical manifestation in the FTD spectrum which could be helpful in making the accurate diagnosis among the variety of EOD cases.
Conslusion: Making the early and accurate diagnosis of FTD is especially important in discussing the prognosis with patient and family, can allow the use of symptomatic therapy resulting in improved quality of life mostly by avoiding the inadequate medication and could also guide the genetic testing.
Key words: spectrum of frontotemporal dementia (FTD), clinical features, behavioural variant of FTD, primary progressive aphasias
Apstrakt
Uvod: Frontotemporalna demencija (FTD) se smatra drugom najčešćom degenerativnom formom demencije sa ranim početkom (DRP), a čini je spektar neurodegenerativnih poremećaja u kojem razlikujemo dva glavna podtipa: FTD sa inicijalnim i dominirajućim ispadima na planu ponašanja, u socijalnim interakcijama i egzekutivnom disfunkcijom (FTDbv); i jezičku varijantu- tipove primarno progresivne afazije (PPA) u kojima preovlađuju ispadi u domenu jezičkih funkcija. Pacijenti kako sa sporadičnim tako i genetskim navedenim formama FTD mogu razviti motorne poremećaje (pre, posle ili istovremeno sa bihejvioralnim/kognitivnim poremećajima) u vidu bolesti motornog neurona ili atipičnog parkinsonizma- progresivne supranuklearne paralize i kortikobazalnog sindroma, što sve zajedno čini spektar FTD. FTD je još uvek nedovoljno prepoznat entitet, a izražena heterogenost u kliničkoj prezentaciji , rani početak bolesti (najčešće pre 65. godine starosti), kao i preplitanje između ranih FTDbv simptoma (gubitak uvida, izražena apatija, opsesivno ili kompuzivno ponašanje, prejedanje...) i psihijatrijskih manifestacija vodi pogrešnim dijagnozama i predstavlja izazov kliničarima čak i u tercijarnim centrima.
Cilj: U ovom preglednom radu smo istakli specifičnosti kliničkog ispoljavanja spektra FTD koje bi mogle biti dragocene u diferencijalno-dijagnostičkom razmišljanju kada su DRP u pitanju i skratiti ekstenzivnost dijagnostičkih metoda, kao i vreme do postavljanja adekvatne dijagnoze FTD.
Zaključak: Rano i precizno postavljanje dijagnoze FTD je posebno od značaja za sagledavanje prognoze i toka bolesti zajedno sa pacijentom i porodicom, za mogućnost uvođenja simptomatske terapije čime se poboljšava kvalitet života pacijenata i sprečava neadekvatno lečenje i neželjena dejstva takve terapije, kao i usmeravanje genetskih testiranja, u interesu članova porodice koji takođe mogu biti u riziku od razvoja bolesti ili preneti mutaciju na svoje potomke.
Ključne reči: spektar frontotemporalne demencije (FTD), kliničke karakteristike, bihejvioralna varijanta FTD, primarno progresivne afazije
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