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BackgroundMutations in GRN (progranulin) and MAPT (microtubule-associated protein tau) are among the most frequent causes of monogenic frontotemporal dementia (FTD), but data on the frequency of these mutations in regions such as Latin America are still lacking.ObjectiveWe aimed to investigate the frequencies of GRN and MAPT mutations in FTD cohorts from 2 Brazilian dementia research centers, the University of Sao Paulo and the Federal University of Minas Gerais medical schools.MethodsWe included 76 probands diagnosed with behavioral-variant FTD (n=55), semantic-variant Primary Progressive Aphasia (PPA) (n=11), or nonfluent-variant PPA (n=10). Twenty-five percent of the cohort had at least 1 relative affected with FTD.ResultsMutations in GRN were identified in 7 probands, and in MAPT, in 2 probands. We identified 3 novel GRN mutations (p.Q130X, p.317Afs*12, and p.K259Afs*23) in patients diagnosed with nonfluent-variant PPA or behavioral-variant FTD. Plasma progranulin levels were measured and a cutoff value of 70 ng/mL was found, with 100% sensitivity and specificity to detect null GRN mutations.ConclusionsThe frequency of GRN mutations was 9.6% and that of MAPT mutations was 7.1%. Among familial cases of FTD, the frequency of GRN mutations was 31.5% and that of MAPT mutations was 10.5%.

Background: An analysis of practice is conducted by the American Board of Physical Therapy Specialties (ABPTS) every 10 years to revalidate, update, and revise the description of specialty practice (DSP) for each specialty. The Geriatric Specialty Council recently conducted an analysis of practice and revised its content consistent with established procedures by the ABPTS. Purpose: The purpose of this article is threefold: first, to describe the process of the most recent practice analysis; second, to report revisions to the description of specialty practice based on the analysis of practice; and third, to identify elements of practice that define current specialist practice in geriatric physical therapy. Methods: A 10-member committee of subject matter experts (SM Es) and a psychometric consultant developed a survey instrument addressing geriatric physical therapy specialty practice areas. The survey was initially pilot-tested and subsequently administered online to a sample of 801 board-certified geriatric clinical specialists. The consultant facilitated the consensus process to determine decision rules in selecting the final competencies describing current geriatric physical therapy specialty practice. Results: A total of 372 respondents fully or partially completed the survey, resulting in a response rate of 46.4%. Based on a priori decision rules regarding survey data, consensus of the group of SMEs, and input from the ABPTS, the DSP for geriatric physical therapy specialty practice was revised. Revisions (elimination [-] of prior items and addition [+] of new items) were made in Section 1: Knowledge Areas (-8 and +6), in Section 2: Professional Roles, Responsibilities, and Values (-14 and +4), and Section 3: Practice Expectations (-53 and +28). Conclusion: The revised DSP will be used as the basis for the development of the examination blueprint for the specialist examination in geriatric physical therapy and the curricula for residency programs in geriatric physical therapy. [ABSTRACT FROM AUTHOR]

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