Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol

被引：21

作者：

Bocchetta, Martina ^{[1
,2
]}

Mega, Anna ^{[1
]}

Bernardi, Livia ^{[3
]}

Di Maria, Emilio ^{[4
,5
]}

Benussi, Luisa ^{[6
]}

Binetti, Giuliano ^{[7
]}

Borroni, Barbara ^{[8
,9
]}

Colao, Rosanna ^{[3
]}

Di Fede, Giuseppe ^{[10
]}

Fostinelli, Silvia ^{[6
]}

Galimberti, Daniela ^{[11
]}

Gennarelli, Massimo ^{[12
]}

Ghidoni, Roberta ^{[6
]}

Piaceri, Irene ^{[13
]}

Pievani, Michela ^{[1
]}

Porteri, Corinna ^{[14
]}

Redaelli, Veronica ^{[10
]}

Rossi, Giacomina ^{[10
]}

Suardi, Silvia ^{[10
]}

Babiloni, Claudio ^{[15
,16
]}

Scarpini, Elio ^{[11
]}

Tagliavini, Fabrizio ^{[10
]}

Padovani, Alessandro ^{[8
,9
]}

Nacmias, Benedetta ^{[13
]}

Sorbi, Sandro ^{[13
]}

Frisoni, Giovanni B. ^{[1
,17
,18
,19
]}

Bruni, Amalia C. ^{[3
]}

Bozzali, Marco ^{[20
]}

Parnetti, Lucilla ^{[21
]}

Ferrarese, Carlo ^{[22
,23
]}

Cappa, Stefano F. ^{[24
]}

Marra, Camillo ^{[25
,26
]}

Masullo, Carlo ^{[27
]}

Rainero, Innocenzo ^{[28
]}

Silani, Vincenzo ^{[29
,30
]}

Sorrentino, Giuseppe ^{[31
]}

Bruno, Giuseppe ^{[32
]}

Cagnin, Annachiara ^{[33
,34
]}

机构：

[1] IRCCS Ist Ctr San Giovanni Dio Fatebenefratelli, Lab Alzheimers Neuroimaging & Epidemiol, Brescia, Italy

[2] Univ Brescia, Dept Mol & Translat Med, Brescia, Italy

[3] ASP Catanzaro, Ctr Reg Neurogenet, Lamezia Terme, CZ, Italy

[4] Univ Genoa, Dept Hlth Sci, Genoa, Italy

[5] Galliera Hosp, Div Med Genet, Genoa, Italy

[6] IRCCS Ist Ctr San Giovanni Dio Fatebenefratelli, Mol Markers Lab, Brescia, Italy

[7] IRCCS Ist Ctr San Giovanni Dio Fatebenefratelli, Brescia, Italy

[8] Univ Brescia, Brescia, Brescia, Italy

[9] Ctr Ageing Brain & Neurodegenerat Disorders, Neurol Unit, Brescia, Brescia, Italy

[10] IRCCS Fdn Ist Neurol Carlo Besta, Milan, Italy

[11] Univ Milan, Fdn Ca Granda, IRCCS Osped Maggiore Policlin, Milan, Italy

[12] IRCCS Ist Ctr San Giovanni Dio Fatebenefratelli, Genet Unit, Brescia, Italy

[13] Univ Florence, Dept Neurosci Psychol Drug Res & Child Hlth, Florence, Italy

[14] IRCCS Ist Ctr San Giovanni Dio Fatebenefratelli, Bioeth Unit, Brescia, Italy

[15] Univ Roma La Sapienza, Departiment Physiol & Pharmacol, Piazzale Aldo Moro 5, I-00185 Rome, Italy

[16] IRCCS San Raffaele Pisana Rome, Rome, Italy

[17] Univ Hosp Geneva, Memory Clin, Geneva, Switzerland

[18] Univ Hosp Geneva, LANVIE Lab Neuroimaging Aging, Geneva, Switzerland

[19] Univ Geneva, Geneva, Switzerland

[20] IRCCS Santa Lucia Fdn, Neuroimaging Lab, Rome, Italy

[21] Univ Perugia, Ctr Memory Disturbances, Dept Med, Neurol Sect, I-06100 Perugia, Italy

[22] Univ Milano Bicocca, Sch Med & Surg, Milan Ctr Neurosci NeuroMI, Milan, Italy

[23] San Gerardo Hosp, Neurol Unit, Monza, Italy

[24] IUSS, NeTS Ctr, Pavia, Italy

[25] Univ Cattolica Sacro Cuore, Inst Neurol, Rome, Italy

[26] Univ Cattolica Sacro Cuore, Ctr Neuropsychol Res, Policlin Gemelli, Rome, Italy

[27] Univ Cattolica Sacro Cuore, Inst Neurol, Dept Neurosci, I-00168 Rome, Italy

[28] Univ Turin, Dept Neurosci Rita Levi Montalcini, Neurol Headache Ctr 1, Turin, Italy

[29] Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Ist Auxol Italiano, Dept Neurol,Stroke Unit,Dino Ferrari Ctr, Milan, Italy

[30] Univ Milan, Dept Pathophysiol & Transplantat, IRCCS Ist Auxol Italiano, Lab Neurosci,Dino Ferrari Ctr, Milan, Italy

[31] Univ Naples Parthenope, Naples, Italy

[32] Univ Roma La Sapienza, Dept Neurol & Psychiat, Memory Clin, Rome, Italy

[33] Univ Padua, Dept Neurosci DNS, Padua, Italy

[34] IRCCS San Camillo Hosp Fdn, Venice, Italy

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2016年 / 51卷 / 01期

关键词：

Alzheimer's disease; frontotemporal degeneration; genetic counseling; genetic testing; HEXANUCLEOTIDE REPEAT EXPANSION; PROGRANULIN MUTATIONS; A713T MUTATION; DEMENTIA; C9ORF72; TAU; VALIDATION; MISSENSE; QUESTIONNAIRE; INFORMATION;

D O I：

10.3233/JAD-150849

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Background: Genetic testing of familial Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD) is attracting interest thanks to innovative primary prevention clinical trials and increased request for information by at-risk individuals. However, ethical, social, and psychological implications are paramount and genetic testing must be supported by structured genetic counseling. In Italy, practice parameters and guidelines for genetic counseling in dementia are not available. Objective: To develop a nationally harmonized protocol for genetic counseling and testing of familial AD and FTLD. Method: Activities were carried out in the context of the Italian Dominantly Inherited Alzheimer's and Frontotemporal Network (IT-DIAfN) project, a national network of centers of excellence with expertise in managing patients with familial AD and FTLD. A survey of the literature on genetic counseling protocols and guidelines was conducted. Local protocols for genetic counseling were surveyed. Differences and commonalities among protocols were identified and discussed among project partners. Consensus was reached following implicit aggregation methods. Results: Consensus was reached on a protocol for patients with clinically diagnosed familial AD or FTLD and a distinct protocol for their at-risk relatives. Genetic counseling should be provided by a multidisciplinary team including a geneticist, a neurologist/geriatrician, and a psychologist/psychiatrist, according to the following schedule: (i) initial consultation with tailored information on the genetics of the dementias; (ii) clinical, psychological, and cognitive assessment; if deemed appropriate (iii) genetic testing following a structured decision tree for gene mutation search; (iv) genetic testing result disclosure; (v) psychological support follow-up. Conclusions: This genetic counseling protocol provides Italian centers with a line of shared practice for dealing with the requests for genetic testing for familial AD and FTLD from patients and at-risk relatives, who may also be eligible participants for novel prevention clinical trials.

引用

页码：277 / 291

页数：15

共 79 条

[1]

[Anonymous], 1989, SPIELBERGER STATE TR, DOI DOI 10.1007/978-0-387-78665-0_6696,4326

[2]

[Anonymous], 2009, BHS Beck hopelessness scale: Manuale

[3]

Apolone G., 2005, QUESTIONARIO STATO S

[4] Progranulin Genetic Screening in Frontotemporal Lobar Degeneration Patients From Central Italy [J].

Bagnoli, Silvia ;

Piaceri, Irene ;

Tedde, Andrea ;

Piacentini, Silvia ;

Nannucci, Serena ;

Bracco, Laura ;

Sorbi, Sandro ;

Nacmias, Benedetta .

CELLULAR AND MOLECULAR NEUROBIOLOGY, 2012, 32 (01) :13-16

[5] Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 [J].

Baker, Matt ;

Mackenzie, Ian R. ;

Pickering-Brown, Stuart M. ;

Gass, Jennifer ;

Rademakers, Rosa ;

Lindholm, Caroline ;

Snowden, Julie ;

Adamson, Jennifer ;

Sadovnick, A. Dessa ;

Rollinson, Sara ;

Cannon, Ashley ;

Dwosh, Emily ;

Neary, David ;

Melquist, Stacey ;

Richardson, Anna ;

Dickson, Dennis ;

Berger, Zdenek ;

Eriksen, Jason ;

Robinson, Todd ;

Zehr, Cynthia ;

Dickey, Chad A. ;

Crook, Richard ;

McGowan, Eileen ;

Mann, David ;

Boeve, Bradley ;

Feldman, Howard ;

Hutton, Mike .

NATURE, 2006, 442 (7105) :916-919

[6] AN INVENTORY FOR MEASURING DEPRESSION [J].

BECK, AT ;

ERBAUGH, J ;

WARD, CH ;

MOCK, J ;

MENDELSOHN, M .

ARCHIVES OF GENERAL PSYCHIATRY, 1961, 4 (06) :561-&

[7] MEASUREMENT OF PESSIMISM - HOPELESSNESS SCALE [J].

BECK, AT ;

WEISSMAN, A ;

LESTER, D ;

TREXLER, L .

JOURNAL OF CONSULTING AND CLINICAL PSYCHOLOGY, 1974, 42 (06) :861-865

[8] Validation of next-generation sequencing technologies in genetic diagnosis of dementia [J].

Beck, John ;

Pittman, Alan ;

Adamson, Gary ;

Campbell, Tracy ;

Kenny, Joanna ;

Houlden, Henry ;

Rohrer, Jon D. ;

de Silva, Rohan ;

Shoai, Maryam ;

Uphill, James ;

Poulter, Mark ;

Hardy, John ;

Mummery, Catherine J. ;

Warren, Jason D. ;

Schott, Jonathan M. ;

Fox, Nick C. ;

Rossor, Martin N. ;

Collinge, John ;

Mead, Simon .

NEUROBIOLOGY OF AGING, 2014, 35 (01) :261-265

[9] Genetics of Alzheimer Disease [J].

Bekris, Lynn M. ;

Yu, Chang-En ;

Bird, Thomas D. ;

Tsuang, Debby W. .

JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY, 2010, 23 (04) :213-227

[10] C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study [J].

Benussi, Luisa ;

Rossi, Giacomina ;

Glionna, Michela ;

Tonoli, Elisa ;

Piccoli, Elena ;

Fostinelli, Silvia ;

Paterlini, Anna ;

Flocco, Rosa ;

Albani, Diego ;

Pantieri, Roberta ;

Cereda, Cristina ;

Forloni, Gianluigi ;

Tagliavini, Fabrizio ;

Binetti, Giuliano ;

Ghidoni, Roberta .

JOURNAL OF ALZHEIMERS DISEASE, 2014, 38 (04) :799-808

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