Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis
Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive. We identified novel PRNP stop-codon mutations (p.Y163X, p.Y169X) in two Italian kindreds. Disease typically presented in the third or fourth decade with progressive autonomic failure and diarrhea. Moreover, one proband (p.Y163X) developed late cognitive decline, whereas some of his relatives presented with isolated cognitive and psychiatric symptoms. Our results strengthen the link between PRNP truncating mutations and systemic abnormal PrP deposition and support a wider application of PRNP screening to include unsolved cases of familial autonomic neuropathy.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2018 |
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| Erschienen: |
2018 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:5 |
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| Enthalten in: |
Annals of clinical and translational neurology - 5(2018), 6 vom: 18. Juni, Seite 777-783 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Capellari, Sabina [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Revised 20.11.2019 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1002/acn3.568 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM285724088 |
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| 245 | 1 | 0 | |a Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis |
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| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive. We identified novel PRNP stop-codon mutations (p.Y163X, p.Y169X) in two Italian kindreds. Disease typically presented in the third or fourth decade with progressive autonomic failure and diarrhea. Moreover, one proband (p.Y163X) developed late cognitive decline, whereas some of his relatives presented with isolated cognitive and psychiatric symptoms. Our results strengthen the link between PRNP truncating mutations and systemic abnormal PrP deposition and support a wider application of PRNP screening to include unsolved cases of familial autonomic neuropathy | ||
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Baiardi, Simone |e verfasserin |4 aut | |
| 700 | 1 | |a Rinaldi, Rita |e verfasserin |4 aut | |
| 700 | 1 | |a Bartoletti-Stella, Anna |e verfasserin |4 aut | |
| 700 | 1 | |a Graziano, Claudio |e verfasserin |4 aut | |
| 700 | 1 | |a Piras, Silvia |e verfasserin |4 aut | |
| 700 | 1 | |a Calandra-Buonaura, Giovanna |e verfasserin |4 aut | |
| 700 | 1 | |a D'Angelo, Roberto |e verfasserin |4 aut | |
| 700 | 1 | |a Terziotti, Camilla |e verfasserin |4 aut | |
| 700 | 1 | |a Lodi, Raffaele |e verfasserin |4 aut | |
| 700 | 1 | |a Donadio, Vincenzo |e verfasserin |4 aut | |
| 700 | 1 | |a Pironi, Loris |e verfasserin |4 aut | |
| 700 | 1 | |a Cortelli, Pietro |e verfasserin |4 aut | |
| 700 | 1 | |a Parchi, Piero |e verfasserin |4 aut | |
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