Psychometric Properties of Turkish Version of Survey of Activities and Fear of Falling in the Elderly Among Patients with Parkinson's Disease

Objective: Fear of falling (FOF) is one of the important risk factors for falling, is higher in patients with Parkinson's disease (PD). The Survey of Activities and Fear of Falling in the Elderly (SAFFE) differs from other scales in terms of considering the accompanying activity limitation. The aim of the study was to show the psychometric properties of the Turkish version of SAFFE (SAFFE-T) in PD, and to correlate SAFFE FOF subscale scores with age, disease duration, and the Turkish version of Movement Disorder Society Unified Parkinson's Disease Rating Scale-III (MDS-UPDRS-TR-III) motor score

Smoking-responsive juvenile-onset parkinsonism

We describe a patient with juvenile levodopa-responsive Parkinsonism who reported a dramatic response to cigarette smoking with transient but marked improvement of motor symptoms associated with oculogyric crises and psychotic behavior. His beta-CIT single-photon emission computed tomography scan showed a complete absence of presynaptic dopaminergic nerve terminals. (C) 2006 Movement Disorder Society

Frequency of frontotemporal dementia-related gene variants in Turkey

Just as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also diverse and multiple molecular pathways are thought to be involved in disease pathogenesis. In the present study, FTD-related genes were evaluated in a Turkish cohort of 175 index FTD patients with a gene panel including GRN, MAPT, TARDBP, FUS, CHMP2B and VCP genes. Potential genetic associations were prospected in 16 patients (9.1%); five variants (p.(Gly35Glufs) and p.(Cys253Ter) in GRN; p.(Arg95Cys) in VCP; p.(Met405Val) in TARDBP and p.(Pro636Leu) in MAPT) were classified as pathogenic (P) or likely pathogenic (LP), in four familial and one sporadic patients. Three novel variants in MAPT, CHMP2B and FUS were also identified in familial cases. The most common pathogenic variants were observed in the GRN gene with a frequency of 1.14% (2/175) and this rate was 4.57% (8/175), including variants of uncertain significance (VUS). In this study with the largest cohort of Turkish FTD patients, GRN and MAPT variants were identified as the most common genetic associations; and rare causes like VCP, TARDBP, CHMP2B and FUS variants are recommended to be considered in patients with compatible clinical findings. (C) 2021 Elsevier Inc. All rights reserved