Genetic counselling improves the molecular characterisation of dementing disorders

Stefania Zampatti, Michele Ragazzo, Cristina Peconi, Serena Luciano, Stefano Gambardella, Valerio Caputo, Claudia Strafella, Raffaella Cascella, Carlo Caltagirone, Emiliano Giardina

Research output: Contribution to journalReview articlepeer-review

Abstract

Dementing disorders are a complex group of neurodegenerative diseases characterised by different, but often overlapping, pathological pathways. Genetics have been largely associated with the development or the risk to develop dementing diseases. Recent advances in molecular technologies permit analyzing of several genes in a small time, but the interpretation analysis is complicated by several factors: the clinical complexity of neurodegenerative disorders, the frequency of co-morbidities, and the high phenotypic heterogeneity of genetic diseases. Genetic counselling supports the diagnostic path, providing an accurate familial and phenotypic characterisation of patients. In this review, we summarise neurodegenerative dementing disorders and their genetic determinants. Genetic variants and associated phenotypes will be divided into high and low impact, in order to reflect the pathologic continuum between multifactorial and mendelian genetic factors. Moreover, we report a molecular characterisation of genes associated with neurodegenerative disorders with cognitive impairment. In particular, the high frequency of rare coding genetic variants in dementing genes strongly supports the role of geneticists in both, clinical phenotype characterisation and interpretation of genotypic data. The smart application of exome analysis to dementia patients, with a pre-analytical selection on familial, clinical, and instrumental features, improves the diagnostic yield of genetic test, reduces time for diagnosis, and allows a rapid and personalised management of disease.

Original languageEnglish
Article number474
JournalJournal of Personalized Medicine
Volume11
Issue number6
DOIs
Publication statusPublished - Jun 2021

Keywords

  • Dementia
  • Genetic counselling
  • Rare genetic variants

ASJC Scopus subject areas

  • Medicine (miscellaneous)

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