Frontotemporal lobar degeneration (FTLD) is a common early-onset dementia, which shows highly heterogeneous phenotypic presentations. Although an autosomal dominant transmission can be found only in about 10% cases, familial aggregation is frequently observed in FTLD. Recently, the progranulin gene (GRN) was reported to be involved in the disease pathogenesis. We describe two clinically different, apparently sporadic FTLD cases, sharing the previously described GRN mutation g.11019-11022delCACT (relative to nt1, NCBI NG-007886.1), alias Thr272fs, with a premorbid psychiatric history. Both patients are males and were in their sixties when diagnosed clinically with, respectively, the behavioral variant of frontotemporal dementia (bvFTD) and progressive nonfluent aphasia (PNFA). In both cases, the medical history revealed the presence of bipolar spectrum disorders. Mutations in GRN are considered to be a major cause of FTLD. However, the phenotypes associated with these mutations are highly variable. Our description of two novel FTLD genetic cases confirms the high frequency of the g.11019-11022delCACT mutation in Northern Italy. On this basis, we recommend to consider the presence of this mutation as a possible cause of the disease, particularly in patients with premorbid psychiatric symptoms. © 2011-IOS Press and the authors. All rights reserved.

Cerami, C., Marcone, A., Galimberti, D., Villa, C., Scarpini, E., Cappa, S. (2011). From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder. JOURNAL OF ALZHEIMER'S DISEASE, 27(4), 791-797 [10.3233/JAD-2011-110788].

From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder

VILLA, CHIARA;
2011

Abstract

Frontotemporal lobar degeneration (FTLD) is a common early-onset dementia, which shows highly heterogeneous phenotypic presentations. Although an autosomal dominant transmission can be found only in about 10% cases, familial aggregation is frequently observed in FTLD. Recently, the progranulin gene (GRN) was reported to be involved in the disease pathogenesis. We describe two clinically different, apparently sporadic FTLD cases, sharing the previously described GRN mutation g.11019-11022delCACT (relative to nt1, NCBI NG-007886.1), alias Thr272fs, with a premorbid psychiatric history. Both patients are males and were in their sixties when diagnosed clinically with, respectively, the behavioral variant of frontotemporal dementia (bvFTD) and progressive nonfluent aphasia (PNFA). In both cases, the medical history revealed the presence of bipolar spectrum disorders. Mutations in GRN are considered to be a major cause of FTLD. However, the phenotypes associated with these mutations are highly variable. Our description of two novel FTLD genetic cases confirms the high frequency of the g.11019-11022delCACT mutation in Northern Italy. On this basis, we recommend to consider the presence of this mutation as a possible cause of the disease, particularly in patients with premorbid psychiatric symptoms. © 2011-IOS Press and the authors. All rights reserved.
Articolo in rivista - Articolo scientifico
Frontotemporal lobar degeneration, bipolar disorder
English
2011
27
4
791
797
none
Cerami, C., Marcone, A., Galimberti, D., Villa, C., Scarpini, E., Cappa, S. (2011). From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder. JOURNAL OF ALZHEIMER'S DISEASE, 27(4), 791-797 [10.3233/JAD-2011-110788].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/56674
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