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Article ; Online: Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia.

2018 Volume 61, Issue 3, Page(s) 1179–1187

Abstract: Background: Several genetic variants playing a key role in cholesterol levels, blood pressure, and vascular dysfunction influence the risk of Alzheimer's disease (AD) and vascular dementia (VaD). The many meta-analysis studies carried out on large ... ...

Abstract	Background: Several genetic variants playing a key role in cholesterol levels, blood pressure, and vascular dysfunction influence the risk of Alzheimer's disease (AD) and vascular dementia (VaD). The many meta-analysis studies carried out on large numbers of samples in different populations have not provided clear results to date, because a trans-ethnic shift of risk genotypes in different populations is often observed. Objectives: To determine genotypes allele frequencies of the polymorphisms most frequently identified to be correlated with cardio-cerebrovascular disease and AD in a Southern Italy population and to investigate their possible association with dementia. Methods: The genotype and allele frequencies of 13 cardio-cerebrovascular risk polymorphisms were assessed and their possible association with dementia was investigated in a case-control study, including 221 consecutive unrelated subjects diagnosed with dementia (120 subjects affected by AD, 55 by frontotemporal dementia, and 33 by vascular dementia) and 218 matched controls of Calabrian origin. Results: Carriers of at least one APOEɛ4 allele resulted to be at higher risk of AD [OR(95% CI) = 2.721(1.477-5.011)] and VaD [OR(95% CI) = 6.205(2.356-16.342)] compared to non-carriers. Individuals with the IV genotype of the CETP polymorphism were more likely to have AD [OR(95% CI) = 2.427(1.364-4.319)] and VaD [OR(95% CI) = 3.649(1.455-9.152)] compared to subjects with the II-VV genotypes. Conclusion: CETP I405V polymorphism is likely a risk factor for AD and VaD in our cohort, independent of APOEɛ4 status. Unmodifiable genetic risk factors should be taken into account to promote a healthy lifestyle to prevent dementia.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Apolipoprotein E4/genetics ; Case-Control Studies ; Cholesterol Ester Transfer Proteins/genetics ; Cohort Studies ; Dementia, Vascular/genetics ; Female ; Frontotemporal Dementia/genetics ; Gene Frequency ; Humans ; Italy ; Male ; Middle Aged ; Polymorphism, Genetic ; Risk Factors
Chemical Substances	Apolipoprotein E4 ; CETP protein, human ; Cholesterol Ester Transfer Proteins
Language	English
Publishing date	2018-01-13
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-170687
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Article ; Online: Role of Niemann-Pick Type C Disease Mutations in Dementia.

Journal of Alzheimer's disease : JAD

2017 Volume 55, Issue 3, Page(s) 1249–1259

Abstract: Background: Several neurological and systemic diseases can cause dementia, beyond Alzheimer's disease. Rare genetic causes are often responsible for dementia with atypical features. Recently, mutations causative for Niemann-Pick type C disease (NPC) ... ...

Abstract	Background: Several neurological and systemic diseases can cause dementia, beyond Alzheimer's disease. Rare genetic causes are often responsible for dementia with atypical features. Recently, mutations causative for Niemann-Pick type C disease (NPC) have also been implicated in neurodegenerative diseases. NPC is an autosomal recessive lipid storage disorder caused by mutations in NPC1 and NPC2 genes. In adults, clinical presentation mimicking other neurodegenerative diseases makes diagnosis difficult. Recent evidence suggests that heterozygous mutations in NPC genes may take on etiological significance. Objective: To investigate the presence of NPC1 and NPC2 mutations in adults affected by neurodegenerative dementia plus. Methods: We performed a genetic screening on 50 patients using a wide clinical and biochemical approach to characterize the phenotype of mutated patients. Results: Sequencing analysis revealed four different and known heterozygous mutations in NPC1 and NPC2 genes. Patient 1 carried the p. F284LfsX26 in NPC1 and was affected by progressive supranuclear palsy-like syndrome. The remaining three patients showed a corticobasal syndrome and harbored the c.441+1G>A variant of NPC2 (patient 2), the missense p.N222 S mutation associated with the c.1947+8G>C variant in the splice region of intron 12 in NPC1 (patient 3), and the p.V30M mutation in NPC2 (patient 4), respectively. Filipin staining was abnormal in patients 1 and 2. mRNA analysis revealed an altered splicing of the NPC2 gene in patient 2. Conclusions: Heterozygous mutations of NPC1 and NPC2 genes could contribute to dementia plus, at least in a subset of patients. We highlight the occurrence of NPC1 and NPC2 heterozygous variants in dementia-plus as pathological event.
Language	English
Publishing date	2017
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-160214
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Article ; Online: Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome.

Bernardi, Livia / Cupidi, Chiara / Frangipane, Francesca / Anfossi, Maria / Gallo, Maura / Conidi, Maria Elena / Vasso, Franca / Colao, Rosanna / Puccio, Gianfranco / Curcio, Sabrina A M / Mirabelli, Maria / Clodomiro, Alessandra / Di Lorenzo, Raffaele / Smirne, Nicoletta / Maletta, Raffaele / Bruni, Amalia C

Neurobiology of aging

2014 Volume 35, Issue 11, Page(s) 2657.e7–2657.e11

Abstract: Prion protein gene mutations have been associated with clinical pictures mimicking neurodegenerative diseases different from inherited prion diseases (IPD). We report a novel missense P39L mutation in the N-terminal domain of prion protein in 2 patients ... ...

Abstract	Prion protein gene mutations have been associated with clinical pictures mimicking neurodegenerative diseases different from inherited prion diseases (IPD). We report a novel missense P39L mutation in the N-terminal domain of prion protein in 2 patients affected by frontotemporal lobar degeneration syndrome, negative for mutations in genes causative of dementia. Neither the first carrier, a 67-year-old male in which the onset was a progressive non-fluent aphasia, nor the second carrier, a 78-year-old male affected by frontotemporal dementia and parkinsonism, showed any clinical or instrumental findings suggestive of IPD. Genetic screening of healthy controls and in silico analysis provide support for the potential pathogenicity of this variant. Patient phenotypes, unclassifiable as prion disease, may depend on the location of the mutation in the N-terminal domain, outside the amyloid core of pathologic prion protein, although further functional studies are required to determine whether and how this mutation exerts its pathogenic effect. However, genetic screening of prion protein gene becomes relevant in familial degenerative dementia, particularly in geographical areas with high IPD prevalence.
MeSH term(s)	Aged ; Female ; Frontotemporal Lobar Degeneration/diagnosis ; Frontotemporal Lobar Degeneration/genetics ; Genetic Association Studies ; Genetic Testing ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Prions/genetics ; Protein Structure, Tertiary/genetics ; Syndrome
Chemical Substances	Prions
Language	English
Publishing date	2014-11
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	604505-4
ISSN	1558-1497 ; 0197-4580
ISSN (online)	1558-1497
ISSN	0197-4580
DOI	10.1016/j.neurobiolaging.2014.06.006
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Article ; Online: Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration.

Piaceri, Irene / Pradella, Silvia / Cupidi, Chiara / Nannucci, Serena / Polito, Cristina / Bagnoli, Silvia / Tedde, Andrea / Smirne, Nicoletta / Anfossi, Maria / Gallo, Maura / Bernardi, Livia / Colao, Rosanna / Maletta, Raffaele / Bruni, Amalia Cecilia / Sorbi, Sandro / Nacmias, Benedetta

Journal of Alzheimer's disease : JAD

2014 Volume 40, Issue 3, Page(s) 679–685

Abstract: Background: Progranulin protein (PGRN) is a cysteine-rich growth factor encoded by the progranulin gene (GRN). PGRN mutations were identified in patients with frontotemporal lobar degeneration (FTLD) and recently its role as risk factor has been ... ...

Abstract	Background: Progranulin protein (PGRN) is a cysteine-rich growth factor encoded by the progranulin gene (GRN). PGRN mutations were identified in patients with frontotemporal lobar degeneration (FTLD) and recently its role as risk factor has been described in patients with probable Alzheimer's disease (AD). To date, more than 100 genetic variants in GRN gene have been described and the pathogenic nature is still unclear for almost 36% of them. Objective: Here, we describe three clinical cases carrying the PGRN variation Cys139Arg in order to increase the knowledge on the association of this variant to the clinical spectrum of FTLD. Methods: The genetic analysis was performed using high resolution melting analysis. The Human Progranulin ELISA Kit was used in order to determine PGRN expression levels in the plasma samples. Results: The three patients carrying the genetic variation showed three final different clinical diagnosis, respectively behavioral frontotemporal dementia, semantic dementia, and corticobasal syndrome, thus underlining the clinical heterogeneity typically associated with GRN mutations. All cases shared similar plasma PGRN levels that resulted intermediate between those measured in controls and in GRN null mutation carriers, showing a partial reduction of the protein in plasma. Moreover, according to the bioinformatics software, the Cys139Arg variation causes a decreased stability of the structure of the protein. Conclusion: We describe three new patients affected by neurological syndromes included in the clinical spectrum of FTLD carrying the Cys139Arg genetic variant, thus suggesting a possible implication in the pathogenesis of FTLD.
MeSH term(s)	Aged ; Aged, 80 and over ; Arginine/genetics ; Cysteine/genetics ; DNA Mutational Analysis ; Family Health ; Female ; Frontotemporal Lobar Degeneration/genetics ; Frontotemporal Lobar Degeneration/pathology ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation/genetics
Chemical Substances	GRN protein, human ; Intercellular Signaling Peptides and Proteins ; Arginine (94ZLA3W45F) ; Cysteine (K848JZ4886)
Language	English
Publishing date	2014
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-132126
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Article ; Online: Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population.

Anfossi, Maria / Colao, Rosanna / Gallo, Maura / Bernardi, Livia / Conidi, M Elena / Frangipane, Francesca / Vasso, Franca / Puccio, Gianfranco / Clodomiro, Alessandra / Mirabelli, Maria / Curcio, Sabrina A M / Torchia, Giusi / Smirne, Nicoletta / Di Lorenzo, Raffaele / Maletta, Raffaele / Bruni, Amalia C

Journal of Alzheimer's disease : JAD

2014 Volume 38, Issue 2, Page(s) 351–357

Abstract: Background: LRRK2 mutations are common in familial and sporadic Parkinson's disease (PD) cases.: Objective: We present a screening of the most frequently mutated exons of LRRK2 in Calabrian population.: Methods: Eighty-eight PD patients diagnosed ... ...

Abstract	Background: LRRK2 mutations are common in familial and sporadic Parkinson's disease (PD) cases. Objective: We present a screening of the most frequently mutated exons of LRRK2 in Calabrian population. Methods: Eighty-eight PD patients diagnosed according to standard criteria, underwent screening for LRRK2 mutations in exons 19, 21, 24, 25, 27, 29, 31, 32, 33, 35, 38, 40, 41, and 48. Results: Eight LRRK2 variations were identified in nine patients affected by PD, including three novel missense variations (p.Phe1227Leu, p.Gly1520Ala, p.Ile2020Ser) and five previously identified mutations (p.Ala1151Thr, IVS31+3A>G, p.Arg1514Gln, p.Gly2019Ser, p.Thr2356Ile). LRRK2 frequency mutations were approximately 10.2% in all PD patients, 12% in familial, 8% in sporadic cases. The p.Gly2019Ser mutation was found in 2.3% of the total cohort and in 3.2% of sporadic cases. The clinical features of LRRK2-associated with PD in our patients were similar to those of idiopathic PD although most LRRK2 mutated patients presented with bradykinesia instead of tremor; 33.3% developed dementia. Conclusions: We identified three novel LRRK2 mutations and reported a higher frequency in Calabria compared to previously reported data possibly due to the relative genetic isolation of the Calabrian population. These findings contribute to the understanding of the role of LRKK2 variations in PD and provide additional genetic insight into this disease.
MeSH term(s)	Aged ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; Humans ; Italy ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Male ; Middle Aged ; Mutation/genetics ; Parkinson Disease/ethnology ; Parkinson Disease/genetics ; Population Groups/genetics ; Protein-Serine-Threonine Kinases/genetics ; Severity of Illness Index
Chemical Substances	LRRK2 protein, human (EC 2.7.11.1) ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (EC 2.7.11.1) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
Language	English
Publishing date	2014
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-130689
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Article ; Online: MAPT V363I variation in a sporadic case of frontotemporal dementia: variable penetrant mutation or rare polymorphism?

Anfossi, Maria / Bernardi, Livia / Gallo, Maura / Geracitano, Silvana / Colao, Rosanna / Puccio, Gianfranco / Curcio, Sabrina A M / Frangipane, Francesca / Mirabelli, Maria / Tomaino, Carmine / Smirne, Nicoletta / Maletta, Raffaele / Bruni, Amalia Cecilia

Alzheimer disease and associated disorders

2011 Volume 25, Issue 1, Page(s) 96–99

Abstract: The V363I mutation of the microtubule-associated protein tau gene has previously been associated with a case of primary progressive nonfluent aphasia with variable penetrance. Herein, we report the finding of the V363I variation in a sporadic early onset ...

Abstract	The V363I mutation of the microtubule-associated protein tau gene has previously been associated with a case of primary progressive nonfluent aphasia with variable penetrance. Herein, we report the finding of the V363I variation in a sporadic early onset frontotemporal dementia patient and in several members of her family. The V363I variation was associated with frontotemporal dementia only in the proband which was also homozygous for the A allele of the progranulin single-nucleotide polymorphism rs9897526 and for methionine at codon 129 of the prion protein gene. The microtubule-associated protein tau V363I variation could be considered either an incomplete penetrant mutation or a rare polymorphism; although its pathogenicity has yet to be clearly demonstrated, modifier genetic factors seem to contribute to the pathogenic effects observed in the patient underlining the great complexity existing in neurodegenerative diseases and questioning so-called sporadic cases that can potentially be caused by gene mutation.
MeSH term(s)	Female ; Frontotemporal Dementia/genetics ; Frontotemporal Dementia/pathology ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; tau Proteins/genetics
Chemical Substances	MAPT protein, human ; tau Proteins
Language	English
Publishing date	2011-01
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1002700-2
ISSN	1546-4156 ; 0893-0341
ISSN (online)	1546-4156
ISSN	0893-0341
DOI	10.1097/WAD.0b013e3181eff860
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Article ; Online: Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation.

Bernardi, Livia / Gallo, Maura / Anfossi, Maria / Conidi, Maria Elena / Colao, Rosanna / Puccio, Gianfranco / Curcio, Sabrina A M / Frangipane, Francesca / Clodomiro, Alessandra / Mirabelli, Maria / Vasso, Franca / Smirne, Nicoletta / Di Lorenzo, Raffaele / Maletta, Raffaele / Bruni, Amalia C

Journal of Alzheimer's disease : JAD

2013 Volume 37, Issue 2, Page(s) 285–289

Abstract: We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE. ...

Abstract	We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE. APOE33/TOMM40VL/VL patients showed a tendency for an earlier age at onset compared to those with APOE33/TOMM40VL/S and APOE33/TOMM40S/S. Moreover, TOMM40VL/VL patients had better memory performance, when compared to TOMM40S/S but not to TOMM40VL/S patients, so there is not a dose-dependent effect. Our results suggest that, in the presence of the PSEN1 mutation, the slight difference in age of onset together with memory performance could be influenced by TOMM40 genotypes.
MeSH term(s)	Adult ; Age of Onset ; Alzheimer Disease/complications ; Alzheimer Disease/genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Leucine/genetics ; Male ; Membrane Transport Proteins/genetics ; Memory Disorders/etiology ; Memory Disorders/genetics ; Methionine/genetics ; Middle Aged ; Mutation/genetics ; Neuropsychological Tests ; Polymorphism, Genetic/genetics ; Presenilin-1/genetics
Chemical Substances	Membrane Transport Proteins ; PSEN1 protein, human ; Presenilin-1 ; TOMM40 protein, human ; Methionine (AE28F7PNPL) ; Leucine (GMW67QNF9C)
Language	English
Publishing date	2013
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-130119
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Article ; Online: Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.

Neurology

2015 Volume 84, Issue 22, Page(s) 2266–2273

Abstract: Objective: To report, for the first time, a large autosomal dominant Alzheimer disease (AD) family in which the APP A713T mutation is present in the homozygous and heterozygous state. To date, the mutation has been reported as dominant, and in the ... ...

Abstract	Objective: To report, for the first time, a large autosomal dominant Alzheimer disease (AD) family in which the APP A713T mutation is present in the homozygous and heterozygous state. To date, the mutation has been reported as dominant, and in the heterozygous state associated with familial AD and cerebrovascular lesions. Methods: The family described here has been genealogically reconstructed over 6 generations dating back to the 19th century. Plasma β-amyloid peptide was measured. Sequencing of causative AD genes was performed. Results: Twenty-one individuals, all but 1 born from 2 consanguineous unions, were studied: 8 were described as affected through history, 5 were studied clinically and genetically, and 8 were asymptomatic at-risk subjects. The A713T mutation was detected in the homozygous state in 3 patients and in the heterozygous state in 8 subjects (6 asymptomatic and 2 affected). Conclusions: Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE, TOMM40, and TREM2 genes. No substantial differences concerning clinical phenotype were evidenced between heterozygous and homozygous patients, in line with the classic definition of dominance. Therefore, in this study, AD followed the classic definition of a dominant disease, contrary to that reported in a previously described AD family with recessive APP mutation. This confirms that genetic AD may be considered a disease with dominant and recessive traits of inheritance.
MeSH term(s)	Aged ; Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Amyloid beta-Protein Precursor/genetics ; Female ; Heterozygote ; Homozygote ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Pedigree
Chemical Substances	APP protein, human ; Amyloid beta-Protein Precursor
Language	English
Publishing date	2015-06-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000001648
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Article ; Online: The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

Gallo, Maura / Frangipane, Francesca / Cupidi, Chiara / De Bartolo, Matteo / Turone, Sabina / Ferrari, Camilla / Nacmias, Benedetta / Grimaldi, Giuliana / Laganà, Valentina / Colao, Rosanna / Bernardi, Livia / Anfossi, Maria / Conidi, Maria Elena / Vasso, Franca / Curcio, Sabrina Anna Maria / Mirabelli, Maria / Smirne, Nicoletta / Torchia, Giusi / Muraca, Maria Gabriella /

Puccio, Gianfranco / Di Lorenzo, Raffaele / Piccininni, Maristella / Tedde, Andrea / Maletta, Raffaele Giovanni / Sorbi, Sandro / Bruni, Amalia Cecilia

Neurobiology of aging

2017 Volume 56, Page(s) 213.e7–213.e12

Abstract: We identified the novel PSEN1 pathogenic mutation M84V in 3 patients belonging to a large kindred affected by autosomal dominant Alzheimer's disease (AD). The clinical phenotype was characterized by early onset dementia in 14 affected subjects over 3 ... ...

Abstract	We identified the novel PSEN1 pathogenic mutation M84V in 3 patients belonging to a large kindred affected by autosomal dominant Alzheimer's disease (AD). The clinical phenotype was characterized by early onset dementia in 14 affected subjects over 3 generations. Detailed clinical, imaging and genetic assessment was performed. We highlighted the presence of unusual symptoms such as frontal executive syndrome, psychosis and spastic paraparesis in these patients. Spastic paraparesis has been reported in other PSEN1 mutations in adjacent codons, suggesting that the position of the genetic defect may affect the clinical expression, although this phenotype can occur in mutations throughout the whole PSEN1 gene. Brain magnetic resonance imaging showed diffuse cortical atrophy, but also atrophy of cerebellar lobules, mainly involving Crus I, in 2 patients without cerebellar motor deficits. These neuroimaging results were consistent with recent findings about the association between sporadic AD and distinct and circumscribed cerebellar atrophy. The present work acknowledged the novel PSEN1 pathogenic mutation M84V and might contribute to the ongoing debate about the involvement of cerebellum in AD.
MeSH term(s)	Aged ; Alzheimer Disease/diagnostic imaging ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Alzheimer Disease/psychology ; Atrophy ; Cerebellum/diagnostic imaging ; Cerebellum/pathology ; Cerebral Cortex/diagnostic imaging ; Cerebral Cortex/pathology ; Executive Function ; Female ; Genes, Dominant/genetics ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation ; Neuroimaging ; Paraparesis, Spastic/diagnostic imaging ; Paraparesis, Spastic/genetics ; Pedigree ; Presenilin-1/genetics ; Psychotic Disorders/diagnostic imaging ; Psychotic Disorders/genetics ; Syndrome
Chemical Substances	PSEN1 protein, human ; Presenilin-1
Language	English
Publishing date	2017-04-27
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	604505-4
ISSN	1558-1497 ; 0197-4580
ISSN (online)	1558-1497
ISSN	0197-4580
DOI	10.1016/j.neurobiolaging.2017.04.017
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Article ; Online: Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia.

Bernardi, Livia / Tomaino, Carmine / Anfossi, Maria / Gallo, Maura / Geracitano, Silvana / Costanzo, Angela / Colao, Rosanna / Puccio, Gianfranco / Frangipane, Francesca / Curcio, Sabrina A M / Mirabelli, Maria / Smirne, Nicoletta / Iapaolo, David / Maletta, Raffaele Giovanni / Bruni, Amalia C

Neurobiology of aging

2009 Volume 30, Issue 11, Page(s) 1825–1833

Abstract: Background: Frontotemporal dementia is a clinically and genetically heterogeneous syndrome. Mutations in two genes, Microtubule Associated Protein Tau (MAPT) and Progranulin (PGRN), and rarely Presenilin mutations, have been causally linked to this ... ...

Abstract	Background: Frontotemporal dementia is a clinically and genetically heterogeneous syndrome. Mutations in two genes, Microtubule Associated Protein Tau (MAPT) and Progranulin (PGRN), and rarely Presenilin mutations, have been causally linked to this disorder. Objective: To investigate the presence of PGRN, PSEN1, PSEN2 and APP mutations in a group of familial early-onset frontotemporal dementia (f-EOFTD) patients negative for MAPT gene mutations. Subjects and methods: We prospectively studied 17 unrelated subjects diagnosed with f-EOFTD (one case neuropathologically confirmed as FTD-Ub+). Among these subjects eight belonged to eight autosomal dominant families unrelated to each other, and nine had at least one first degree relative affected by dementia. Results: We identified two novel heterozygous mutations in two unrelated patients, Cys139Arg in the PGRN gene and Val412Ile in the PSEN1 gene. Conclusions: Early-onset f-FTD remains a heterogeneous disorder from a genetic point of view. PGRN mutation frequency was low in our sample. The presence of a novel PSEN1 mutation suggests that presenilin molecular studies should be performed when screening for MAPT and PGRN genes is negative.
MeSH term(s)	Adult ; Arginine/genetics ; Cysteine/genetics ; DNA Mutational Analysis ; Family Health ; Female ; Fluorodeoxyglucose F18 ; Frontotemporal Dementia/diagnostic imaging ; Frontotemporal Dementia/genetics ; Genetic Predisposition to Disease ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Male ; Microtubule-Associated Proteins/genetics ; Middle Aged ; Mutation/genetics ; Presenilin-1/genetics ; Radionuclide Imaging
Chemical Substances	GRN protein, human ; Intercellular Signaling Peptides and Proteins ; MAP4 ; Microtubule-Associated Proteins ; PSEN1 protein, human ; Presenilin-1 ; Fluorodeoxyglucose F18 (0Z5B2CJX4D) ; Arginine (94ZLA3W45F) ; Cysteine (K848JZ4886)
Language	English
Publishing date	2009-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	604505-4
ISSN	1558-1497 ; 0197-4580
ISSN (online)	1558-1497
ISSN	0197-4580
DOI	10.1016/j.neurobiolaging.2008.01.005
Database	MEDical Literature Analysis and Retrieval System OnLINE

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