The frontal assessment battery is not useful to discriminate progressive supranuclear palsy from frontotemporal dementias.

BACKGROUND: The frontal assessment battery (FAB) has been suggested as a useful tool in the differential diagnosis of progressive supranuclear palsy (PSP) from Parkinson's disease (PD) and multiple system atrophy with parkinsonism (MSA-P). However, the utility of the FAB in the differential diagnosis of PSP from frontotemporal dementia (FTD) phenotypes is still under research. METHODS: We performed the FAB, in a multi-centre cohort of 70 PSP, 103 FTD (N = 84 behavioral variant FTD, N = 10 semantic dementia, N = 9 progressive non-fluent aphasia), 26 PD and 11 MSA-P patients, diagnosed according to established criteria. Patients were also rated with the mini mental state examination and motor scales. RESULTS: The FAB total score showed a poor discriminatory power between PSP and FTD as a group [area under the curve (AUC) = 0.523]. Moreover, the FAB score showed no correlation with disease duration in PSP (r = 0.05) or FTD group (r = 0.04). In contrast, we confirmed that the FAB is clinically useful to differentiate PSP from PD and MSA-P (AUC = 0.927). In fact, the sum of two FAB subscores together (verbal fluency and Luria motor series) were as good as the total score in differentiating PSP from PD and MSA-P (AUC = 0.957). CONCLUSIONS: The FAB may not be a useful tool to differentiate PSP from FTDs, and shows no correlation with disease duration in these disorders. On the other hand, the essential information to differentiate PSP from PD and MSA-P is contained in the sum of only two FAB subscores. This should be taken into consideration in both clinical practice and the planning of clinical trials.

Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.

BACKGROUND AND PURPOSE: Although the first mutation associated with Parkinson's disease (PD) was identified several years ago in the alpha-synuclein (SNCA) gene in families of Greek and Italian ancestry, a more systematic study of this and other known PD mutations has not been performed in the Greek population. METHODS: A genetic analysis in 111 familial or sporadic with early-onset (≤50 years, EO) PD patients was performed for the presence of the A53T SNCA mutation. In separate subgroups of these patients, further mutations in the SNCA, LRRK2, Parkin, PINK1 and DJ-1 genes were searched for. Additionally, a subgroup of familial cases was analysed for mutations in the glucocerebrosidase (GBA) gene. RESULTS: In total, five patients (4.5% of our whole population) were identified with the A53T SNCA mutation, two with a heterozygote dosage mutation and one with a heterozygote point mutation in the Parkin gene, and seven patients (10.3% of our familial cohort) with GBA gene mutations. CONCLUSIONS: The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance. GBA mutations in the familial cohort tested here were as common as in a cohort of sporadic cases previously examined from the same centres. For the remainder of the genes, genetic defects that could definitively account for the disease were not identified. These results suggest that further Mendelian traits that lead to PD in the Greek population remain to be identified.