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• Published in: Journal of clinical neuroscience Vol. 21; no. 11; p. 2045
• Main Authors: Po, Kieren, Leslie, Felicity, Gracia, Natalie, Hodges, John, Burrell, James
• Format: Journal Article
• Language: English
• Published: 01.11.2014
• Subjects: Neurology
• ISSN: 0967-5868
• DOI: 10.1016/j.jocn.2014.06.052

Positive family history has been reported in a high proportion of frontotemporal dementia (FTD) patients, but a genetic cause is documented in a minority of cases. To date, very few studies have examined this apparent discord by systematically assessing the strength of family history in FTD. The present study aimed to characterise the heritability of FTD, compared to Alzheimer’s disease (AD) and controls, using the modified Goldman score. Patients with a diagnosis of FTD or AD were recruited from an FTD research clinic. Detailed clinical and neuropsychological assessments were performed to establish the diagnoses according to accepted diagnostic criteria. FTD patients were further classified into established FTD phenotypes, including behavioural variant (bvFTD) and FTD associated with motor neuron disease (FTD-MND). Comparison was made with age and sex-matched control subjects. Family history of neurodegenerative disease was obtained from patients, their carers, and other family members for collateral history. Strength of family history was graded prospectively using the modified Goldman score. In total, 308 participants (122 FTD, 98 AD, 88 control) were included in the study. Family history of neurodegenerative disease did not differ between groups (FTD 39.3%, AD 42.4%, controls 29.5%, p = 0.167), but the “strength” of family history did differ. Specifically, 17.2% of FTD patients reported a strong family history (modified Goldman score 1–3) compared to 2.3% of controls ( p < 0.001) and 5.1% of AD patients ( p < 0.05). There was no significant difference between AD patients and controls. Strong family history was more common in bvFTD (34.2%) and FTD-MND (21.7%) than in other FTD phenotypes. The present study demonstrated that a “strong” family history of neurodegenerative disease is more common in FTD patients than in AD patients or controls. These findings confirm the high degree of heritability in FTD and emphasise the importance of considering the ”strength” of family history when assessing patients.