Genetic screen in a large series of patients with primary progressive aphasia.
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ABSTRACT:
SUBMITTER: Ramos EM
PROVIDER: S-EPMC6480353 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Publications
Genetic screen in a large series of patients with primary progressive aphasia.
Ramos Eliana Marisa EM Dokuru Deepika Reddy DR Van Berlo Victoria V Wojta Kevin K Wang Qing Q Huang Alden Y AY Miller Zachary A ZA Karydas Anna M AM Bigio Eileen H EH Rogalski Emily E Weintraub Sandra S Rader Benjamin B Miller Bruce L BL Gorno-Tempini Maria Luisa ML Mesulam Marek-Marsel MM Coppola Giovanni G
Alzheimer's & dementia : the journal of the Alzheimer's Association 20190125 4
<h4>Introduction</h4>Primary progressive aphasia (PPA) is a neurological syndrome, associated with both frontotemporal dementia and Alzheimer's disease, in which progressive language impairment emerges as the most salient clinical feature during the initial stages of disease.<h4>Methods</h4>We screened the main genes associated with Alzheimer's disease and frontotemporal dementia for pathogenic and risk variants in a cohort of 403 PPA cases.<h4>Results</h4>In this case series study, 14 (3.5%) ca ...[more]
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Project description:The primary progressive aphasias are a heterogeneous group of focal 'language-led' dementias that pose substantial challenges for diagnosis and management. Here we present a clinical approach to the progressive aphasias, based on our experience of these disorders and directed at non-specialists. We first outline a framework for assessing language, tailored to the common presentations of progressive aphasia. We then consider the defining features of the canonical progressive nonfluent, semantic and logopenic aphasic syndromes, including 'clinical pearls' that we have found diagnostically useful and neuroanatomical and other key associations of each syndrome. We review potential diagnostic pitfalls and problematic presentations not well captured by conventional classifications and propose a diagnostic 'roadmap'. After outlining principles of management, we conclude with a prospect for future progress in these diseases, emphasising generic information processing deficits and novel pathophysiological biomarkers.
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