Genetic forms of frontotemporal lobar degeneration: Current diagnostic approach and new directions in therapeutic strategies

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Sellami, Leila | Saracino, Dario | Le Ber, Isabelle

Edité par CCSD ; Elsevier Masson -

International audience. Recent advances in the genetics of neurodegenerative diseases have substantially improved our knowledge about the genetic causes of frontotemporal lobar degeneration (FTLD). Three major genes, namely progranulin (GRN), C9orf72 and MAPT, as well as several less common genes, are responsible for the majority of familial cases and for a significant proportion of sporadic forms, including FTLD with or without associated amyotrophic lateral sclerosis and some rarer clinical presentations. Plasma progranulin dosage and next-generation sequencing are currently available tools which allow the detection of a genetic cause in a more rapid and efficient way. This has important consequences for clinical practice and genetic counseling for patients and families. The ongoing investigations on some therapeutic candidates targeting different biological pathways involved in the most frequent genetic forms of FTLD, as well as a better understanding of the early pathophysiological modifications occurring during the presymptomatic phase of the disease could hopefully contribute to develop effective disease-modifying therapies. The identification of a causal mutation in a family is of outmost importance indeed to propose to presymptomatic carriers their inclusion in clinical trials with the aim to prevent or delay the onset of disease.

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