Frontotemporal Dementia (FTD)
Frontotemporal Dementia (FTD) is a progressive neurodegenerative disease that primarily affects the frontal and temporal lobes of the brain. It differs from Alzheimer’s disease because it tends to spare memory until the advanced stages, while causing early impairment in language (semantic and non-fluent primary progressive aphasia variants) and behavior (behavioral variant). FTD is one of the leading causes of early-onset dementia (before the age of 65), affecting men and women similarly, and its prevalence is underestimated due to diagnostic difficulties in the early stages.
In most cases, FTD is a sporadic condition, but approximately 30-40% of patients have a positive family history. Hereditary forms account for about 5% of cases and are most frequently caused by mutations in the MAPT, GRN, and C9orf72 genes. At the histopathological level, abnormal accumulations of proteins such as tau, TDP-43, or FUS are observed, which lead to neuronal degeneration in the affected brain regions.
FTD is classified into three main variants with distinct clinical manifestations:
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Behavioral variant (bvFTD): marked changes in personality, disinhibition, apathy, compulsive behaviors, impaired empathy, and reduced social judgment.
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Primary Progressive Aphasia (PPA):
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Semantic variant: loss of understanding of word meanings.
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Non-fluent variant: difficulty in speech articulation and sentence construction.
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FTD with motor neuron disease: associated with Amyotrophic Lateral Sclerosis (ALS), featuring muscle weakness and motor symptoms.
Diagnosis is based on neurological evaluation, neuropsychological testing, and brain imaging. Magnetic Resonance Imaging (MRI) shows atrophy of the frontal and/or temporal lobes, while FDG-PET highlights specific hypometabolism in the same areas. Cerebrospinal fluid (CSF) analysis can assist in differential diagnosis by excluding other forms of dementia. Genetic testing is indicated in suspected familial or early-onset cases.
Available therapies
Attualmente non esistono cure definitive per la FTD. Il trattamento è sintomatico e si concentra sulla gestione dei disturbi comportamentali, mediante l’utilizzo di farmaci antidepressivi, antipsicotici e sedativi, e attraverso interventi psicosociali; inoltre nelle forme afasiche è utile la logopedia per la riabilitazione del linguaggio
Currently, there are no definitive cures for FTD. Treatment is symptomatic and focuses on managing behavioral disturbances through the use of antidepressants, antipsychotics, and sedatives, as well as psychosocial interventions; furthermore, in aphasic forms, speech therapy is beneficial for language rehabilitation.
Research in progress
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Frontotemporal dementia remains one of the most complex challenges in the field of neuroscience, especially due to its clinical variability and its impact on young, active individuals.
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Genetic studies to identify new associated genes and improve early diagnosis.
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Evaluation of specific biomarkers (plasma or cerebrospinal fluid) for the early identification of the disease.
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Development of targeted therapies against tau, TDP-43, and other proteins implicated in neurodegeneration.
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Projects on non-pharmacological interventions and support strategies for families and caregivers.
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Reference laboratory
Contacts and informations
Segreteria: Marco Milianti
Mail: segreteria.neurodeg@policlinico.mi.it 0255038508
Link a pubblicazioni scientifiche o risorse utili:
Centro per disturbi cognitivi e demenze (CDCD)