Abstract：
:Genetics is intricately involved in the etiology of neurodegenerative dementias. The incidence of monogenic dementia among all neurodegenerative forms is unknown due to the lack of systematic studies and of patient/clinician access to extensive diagnostic procedures. In this study, we conducted targeted sequencing in 246 clinically heterogeneous patients, mainly with early-onset and/or familial neurodegenerative dementia, using a custom-designed next-generation sequencing panel covering 27 genes known to harbor mutations that can cause different types of dementia, in addition to the detection of C9orf72 repeat expansions. Forty-nine patients (19.9%) carried known pathogenic or novel, likely pathogenic, variants, involving both common (presenilin 1, presenilin 2, C9orf72, and granulin) and rare (optineurin, serpin family I member 1 and protein kinase cyclic adenosine monophosphate (cAMP)-dependent type I regulatory subunit beta) dementia-associated genes. Our results support the use of an extended next-generation sequencing panels as a quick, accurate, and cost-effective method for diagnosis in clinical practice. This approach could have a significant impact on the proportion of tested patients, especially among those with an early disease onset.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Bartoletti-Stella A,Baiardi S,Stanzani-Maserati M,Piras S,Caffarra P,Raggi A,Pantieri R,Baldassari S,Caporali L,Abu-Rumeileh S,Linarello S,Liguori R,Parchi P,Capellari Sdoi
10.1016/j.neurobiolaging.2018.02.006subject
Has Abstractpub_date
2018-06-01 00:00:00pages
180.e23-180.e31eissn
0197-4580issn
1558-1497pii
S0197-4580(18)30048-4journal_volume
66pub_type
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