Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease
Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster dete...
Ausführliche Beschreibung
Autor*in: |
Mantero, Vittorio [verfasserIn] Tarlarini, Claudia [verfasserIn] Aliprandi, Angelo [verfasserIn] Lauria, Giuseppe [verfasserIn] Rigamonti, Andrea [verfasserIn] Abate, Lucia [verfasserIn] Origone, Paola [verfasserIn] Mandich, Paola [verfasserIn] Penco, Silvana [verfasserIn] Salmaggi, Andrea [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2017 |
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Übergeordnetes Werk: |
Enthalten in: Journal of genetic counseling - Hoboken, NJ : Wiley, 1992, 26(2017), 3 vom: 01. März, Seite 442-446 |
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Übergeordnetes Werk: |
volume:26 ; year:2017 ; number:3 ; day:01 ; month:03 ; pages:442-446 |
Links: |
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DOI / URN: |
10.1007/s10897-017-0088-5 |
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Katalog-ID: |
SPR014444194 |
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520 | |a Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. | ||
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650 | 4 | |a Parkinson disease |7 (dpeaa)DE-He213 | |
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700 | 1 | |a Mandich, Paola |e verfasserin |4 aut | |
700 | 1 | |a Penco, Silvana |e verfasserin |4 aut | |
700 | 1 | |a Salmaggi, Andrea |e verfasserin |4 aut | |
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10.1007/s10897-017-0088-5 doi (DE-627)SPR014444194 (SPR)s10897-017-0088-5-e DE-627 ger DE-627 rakwb eng 150 570 610 ASE 44.48 bkl Mantero, Vittorio verfasserin aut Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. Amyotrophic lateral sclerosis (dpeaa)DE-He213 Dementia (dpeaa)DE-He213 Frontotemporal degeneration (dpeaa)DE-He213 Parkinsonism (dpeaa)DE-He213 Genetic (dpeaa)DE-He213 Genetic test (dpeaa)DE-He213 Genetic counseling (dpeaa)DE-He213 Guam complex (dpeaa)DE-He213 Parkinson disease (dpeaa)DE-He213 Tarlarini, Claudia verfasserin aut Aliprandi, Angelo verfasserin aut Lauria, Giuseppe verfasserin aut Rigamonti, Andrea verfasserin aut Abate, Lucia verfasserin aut Origone, Paola verfasserin aut Mandich, Paola verfasserin aut Penco, Silvana verfasserin aut Salmaggi, Andrea verfasserin aut Enthalten in Journal of genetic counseling Hoboken, NJ : Wiley, 1992 26(2017), 3 vom: 01. März, Seite 442-446 (DE-627)320574679 (DE-600)2016899-8 1573-3599 nnns volume:26 year:2017 number:3 day:01 month:03 pages:442-446 https://dx.doi.org/10.1007/s10897-017-0088-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 26 2017 3 01 03 442-446 |
spelling |
10.1007/s10897-017-0088-5 doi (DE-627)SPR014444194 (SPR)s10897-017-0088-5-e DE-627 ger DE-627 rakwb eng 150 570 610 ASE 44.48 bkl Mantero, Vittorio verfasserin aut Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. Amyotrophic lateral sclerosis (dpeaa)DE-He213 Dementia (dpeaa)DE-He213 Frontotemporal degeneration (dpeaa)DE-He213 Parkinsonism (dpeaa)DE-He213 Genetic (dpeaa)DE-He213 Genetic test (dpeaa)DE-He213 Genetic counseling (dpeaa)DE-He213 Guam complex (dpeaa)DE-He213 Parkinson disease (dpeaa)DE-He213 Tarlarini, Claudia verfasserin aut Aliprandi, Angelo verfasserin aut Lauria, Giuseppe verfasserin aut Rigamonti, Andrea verfasserin aut Abate, Lucia verfasserin aut Origone, Paola verfasserin aut Mandich, Paola verfasserin aut Penco, Silvana verfasserin aut Salmaggi, Andrea verfasserin aut Enthalten in Journal of genetic counseling Hoboken, NJ : Wiley, 1992 26(2017), 3 vom: 01. März, Seite 442-446 (DE-627)320574679 (DE-600)2016899-8 1573-3599 nnns volume:26 year:2017 number:3 day:01 month:03 pages:442-446 https://dx.doi.org/10.1007/s10897-017-0088-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 26 2017 3 01 03 442-446 |
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10.1007/s10897-017-0088-5 doi (DE-627)SPR014444194 (SPR)s10897-017-0088-5-e DE-627 ger DE-627 rakwb eng 150 570 610 ASE 44.48 bkl Mantero, Vittorio verfasserin aut Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. Amyotrophic lateral sclerosis (dpeaa)DE-He213 Dementia (dpeaa)DE-He213 Frontotemporal degeneration (dpeaa)DE-He213 Parkinsonism (dpeaa)DE-He213 Genetic (dpeaa)DE-He213 Genetic test (dpeaa)DE-He213 Genetic counseling (dpeaa)DE-He213 Guam complex (dpeaa)DE-He213 Parkinson disease (dpeaa)DE-He213 Tarlarini, Claudia verfasserin aut Aliprandi, Angelo verfasserin aut Lauria, Giuseppe verfasserin aut Rigamonti, Andrea verfasserin aut Abate, Lucia verfasserin aut Origone, Paola verfasserin aut Mandich, Paola verfasserin aut Penco, Silvana verfasserin aut Salmaggi, Andrea verfasserin aut Enthalten in Journal of genetic counseling Hoboken, NJ : Wiley, 1992 26(2017), 3 vom: 01. März, Seite 442-446 (DE-627)320574679 (DE-600)2016899-8 1573-3599 nnns volume:26 year:2017 number:3 day:01 month:03 pages:442-446 https://dx.doi.org/10.1007/s10897-017-0088-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 26 2017 3 01 03 442-446 |
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10.1007/s10897-017-0088-5 doi (DE-627)SPR014444194 (SPR)s10897-017-0088-5-e DE-627 ger DE-627 rakwb eng 150 570 610 ASE 44.48 bkl Mantero, Vittorio verfasserin aut Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. Amyotrophic lateral sclerosis (dpeaa)DE-He213 Dementia (dpeaa)DE-He213 Frontotemporal degeneration (dpeaa)DE-He213 Parkinsonism (dpeaa)DE-He213 Genetic (dpeaa)DE-He213 Genetic test (dpeaa)DE-He213 Genetic counseling (dpeaa)DE-He213 Guam complex (dpeaa)DE-He213 Parkinson disease (dpeaa)DE-He213 Tarlarini, Claudia verfasserin aut Aliprandi, Angelo verfasserin aut Lauria, Giuseppe verfasserin aut Rigamonti, Andrea verfasserin aut Abate, Lucia verfasserin aut Origone, Paola verfasserin aut Mandich, Paola verfasserin aut Penco, Silvana verfasserin aut Salmaggi, Andrea verfasserin aut Enthalten in Journal of genetic counseling Hoboken, NJ : Wiley, 1992 26(2017), 3 vom: 01. März, Seite 442-446 (DE-627)320574679 (DE-600)2016899-8 1573-3599 nnns volume:26 year:2017 number:3 day:01 month:03 pages:442-446 https://dx.doi.org/10.1007/s10897-017-0088-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 26 2017 3 01 03 442-446 |
allfieldsSound |
10.1007/s10897-017-0088-5 doi (DE-627)SPR014444194 (SPR)s10897-017-0088-5-e DE-627 ger DE-627 rakwb eng 150 570 610 ASE 44.48 bkl Mantero, Vittorio verfasserin aut Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. Amyotrophic lateral sclerosis (dpeaa)DE-He213 Dementia (dpeaa)DE-He213 Frontotemporal degeneration (dpeaa)DE-He213 Parkinsonism (dpeaa)DE-He213 Genetic (dpeaa)DE-He213 Genetic test (dpeaa)DE-He213 Genetic counseling (dpeaa)DE-He213 Guam complex (dpeaa)DE-He213 Parkinson disease (dpeaa)DE-He213 Tarlarini, Claudia verfasserin aut Aliprandi, Angelo verfasserin aut Lauria, Giuseppe verfasserin aut Rigamonti, Andrea verfasserin aut Abate, Lucia verfasserin aut Origone, Paola verfasserin aut Mandich, Paola verfasserin aut Penco, Silvana verfasserin aut Salmaggi, Andrea verfasserin aut Enthalten in Journal of genetic counseling Hoboken, NJ : Wiley, 1992 26(2017), 3 vom: 01. März, Seite 442-446 (DE-627)320574679 (DE-600)2016899-8 1573-3599 nnns volume:26 year:2017 number:3 day:01 month:03 pages:442-446 https://dx.doi.org/10.1007/s10897-017-0088-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 26 2017 3 01 03 442-446 |
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Enthalten in Journal of genetic counseling 26(2017), 3 vom: 01. März, Seite 442-446 volume:26 year:2017 number:3 day:01 month:03 pages:442-446 |
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Amyotrophic lateral sclerosis Dementia Frontotemporal degeneration Parkinsonism Genetic Genetic test Genetic counseling Guam complex Parkinson disease |
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Mantero, Vittorio @@aut@@ Tarlarini, Claudia @@aut@@ Aliprandi, Angelo @@aut@@ Lauria, Giuseppe @@aut@@ Rigamonti, Andrea @@aut@@ Abate, Lucia @@aut@@ Origone, Paola @@aut@@ Mandich, Paola @@aut@@ Penco, Silvana @@aut@@ Salmaggi, Andrea @@aut@@ |
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However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. 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|
author |
Mantero, Vittorio |
spellingShingle |
Mantero, Vittorio ddc 150 bkl 44.48 misc Amyotrophic lateral sclerosis misc Dementia misc Frontotemporal degeneration misc Parkinsonism misc Genetic misc Genetic test misc Genetic counseling misc Guam complex misc Parkinson disease Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease |
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Mantero, Vittorio |
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150 - Psychology 570 - Life sciences; biology 610 - Medicine & health |
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1573-3599 |
topic_title |
150 570 610 ASE 44.48 bkl Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease Amyotrophic lateral sclerosis (dpeaa)DE-He213 Dementia (dpeaa)DE-He213 Frontotemporal degeneration (dpeaa)DE-He213 Parkinsonism (dpeaa)DE-He213 Genetic (dpeaa)DE-He213 Genetic test (dpeaa)DE-He213 Genetic counseling (dpeaa)DE-He213 Guam complex (dpeaa)DE-He213 Parkinson disease (dpeaa)DE-He213 |
topic |
ddc 150 bkl 44.48 misc Amyotrophic lateral sclerosis misc Dementia misc Frontotemporal degeneration misc Parkinsonism misc Genetic misc Genetic test misc Genetic counseling misc Guam complex misc Parkinson disease |
topic_unstemmed |
ddc 150 bkl 44.48 misc Amyotrophic lateral sclerosis misc Dementia misc Frontotemporal degeneration misc Parkinsonism misc Genetic misc Genetic test misc Genetic counseling misc Guam complex misc Parkinson disease |
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ddc 150 bkl 44.48 misc Amyotrophic lateral sclerosis misc Dementia misc Frontotemporal degeneration misc Parkinsonism misc Genetic misc Genetic test misc Genetic counseling misc Guam complex misc Parkinson disease |
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Journal of genetic counseling |
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Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease |
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Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease |
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Mantero, Vittorio |
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Mantero, Vittorio Tarlarini, Claudia Aliprandi, Angelo Lauria, Giuseppe Rigamonti, Andrea Abate, Lucia Origone, Paola Mandich, Paola Penco, Silvana Salmaggi, Andrea |
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genetic counseling dilemmas for a patient with sporadic amyotrophic lateral sclerosis, frontotemporal degeneration & parkinson’s disease |
title_auth |
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease |
abstract |
Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. |
abstractGer |
Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. |
abstract_unstemmed |
Abstract Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives. |
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Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease |
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|
score |
7.401019 |