Heritability in frontotemporal dementia: more missing pieces?
| Autor: | Glenda M. Halliday, John R. Hodges, John B.J. Kwok, Kieren Po, Felicity V. C. Leslie, James R. Burrell, Lauren Bartley, Natalie Gracia |
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| Rok vydání: | 2014 |
| Předmět: |
Male
medicine.medical_specialty Neurology Disease C9orf72 Alzheimer Disease Internal medicine mental disorders medicine Humans Genetic Testing Family history Aged Genetics Pathogenic mutation nutritional and metabolic diseases Heritability Middle Aged medicine.disease nervous system diseases Frontotemporal Dementia Female Neurology (clinical) Psychology Trinucleotide repeat expansion Frontotemporal dementia |
| Zdroj: | Journal of neurology. 261(11) |
| ISSN: | 1432-1459 |
| Popis: | Frontotemporal dementia (FTD) is reportedly highly heritable, even though a recognized genetic cause is often absent. To explain this contradiction, we explored the “strength” of family history in FTD, Alzheimer’s disease (AD), and controls. Clinical syndromes associated with heritability of FTD and AD were also examined. FTD and AD patients were recruited from an FTD-specific research clinic, and patients were further sub-classified into FTD or AD phenotypes. The strength of family history was graded using the Goldman score (GS), and GS of 1–3 was regarded as a “strong” family history. A subset of FTD patients underwent screening for the main genetic causes of FTD. In total, 307 participants were included (122 FTD, 98 AD, and 87 controls). Although reported positive family history did not differ between groups, a strong family history was more common in FTD (FTD 17.2 %, AD 5.1 %, controls 2.3 %, P |
| Databáze: | OpenAIRE |
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