Temporal variant of frontotemporal dementia in C9orf72 repeat expansion carriers: two case studies

AbstractThe temporal variant of frontotemporal dementia (tv-FTD) is a progressive neurodegenerative disease with a complex clinical picture mainly characterized by behavioral and language disorders. In this work, we describe clinical, genetic, neuroanatomical and neuropathological (only in one case) features of two patients with tv-FTD carryingC9orf72 repeat expansion. The first patient (AB) presented with a 1-year disease duration showing focal right anterior temporal lobe (ATL) atrophy on magnetic resonance imaging (MRI). The second patient (BC) came to medical attention 13  years after disease onset and showed a prominent bilateral ATL involvement. Both patients showed naming deficits, impairment in identifying known faces and proper names, and personality changes with new onset behavioral rigidity, and progressing language difficulties to single-word and sentence co mprehension difficulties. They were classified as tv-FTD. Clinical, cognitive and MRI follow-up were performed. As cognitive impairment progressed, MRI atrophy worsened in ATL and frontotemporal areas in both patients. Both cases had clear family histories of neurological and/or psychiatric disease. Genetic testing revealed aC9orf72 hexanucleotide repeat expansion in both cases. BC passed away after 15  years of disease and autopsy showed the expected TDP-type B pathology. These genetic cases of tv-FTD highlight the susceptibility of ATL toC9orf72-related pathology and emphasize the importance of gen...
Source: Brain Imaging and Behavior - Category: Neurology Source Type: research

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Too much going on for one post today.1. Sock puppet?We have a reader who is obsessed with his false conclusion that the commenter Don Quixote is actually my sock puppet. I ask you please to stop wasting your time and mine with this delusion. We do know each other, but we have seen each other once in the past 15 years or so. I live in Connecticut and he lives in the midwest, more than 1,000 miles away. Whatever I have to say, I am more than happy to say in my own name, and I do. BTW I am not known as Michael.2. Mad KingYour Intertubes are all aflutter with speculation and discussion about the neurodegenerative disease many ...
Source: Stayin' Alive - Category: American Health Source Type: blogs
Authors: Turcano P, Stang CD, Mielke MM, Martin PR, Upadhyaya SG, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Savica R Abstract INTRODUCTION: Frontotemporal dementia disorders (FTDs) are heterogeneous phenotypical behavioral and language disorders usually associated with frontal and/or temporal lobe degeneration. We investigated their incidence in a population-based cohort. METHODS: Using a records-linkage system, we identified all patients with a diagnostic code for dementia in Olmsted County, MN, 1995-2010, and confirmed the diagnosis of FTD. A behavioral neurologist verified the clinical diagnosis and det...
Source: The Journal of Alzheimers Association - Category: Psychiatry Tags: Alzheimers Dement Source Type: research
Publication date: Available online 26 November 2019Source: Alzheimer's &DementiaAuthor(s): Pierpaolo Turcano, Cole D. Stang, Michelle M. Mielke, Peter R. Martin, Sudhindra G. Upadhyaya, Keith A. Josephs, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Rodolfo SavicaAbstractIntroductionFrontotemporal dementia disorders (FTDs) are heterogeneous phenotypical behavioral and language disorders usually associated with frontal and/or temporal lobe degeneration. We investigated their incidence in a population-based cohort.MethodsUsing a records-linkage system, we identified all patients with a diagnostic code for demen...
Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association - Category: Geriatrics Source Type: research
son C Abstract Assessment of language and cognitive abilities are associated with clinical challenges. The aim of the present study was to learn more about the MMSE test process from a language perspective by looking in detail at the interaction between patient and tester. In addition, we aimed to further explore the relationship between linguistic and cognitive difficulties.The study was based on an analysis of 20 MMSE test dyads, 10 persons with aphasia and 10 persons with dementia, in interaction with speech and language pathologists. All conversations were audio and video recorded and transcribed verbatim acco...
Source: Clinical Linguistics and Phonetics - Category: Speech-Language Pathology Authors: Tags: Clin Linguist Phon Source Type: research
Conclusions In the current study, AQ underestimated the presence of PPA and WAB-R classification did not distinguish among PPA classification determined by consensus. Performance on individual subtests and relative performance across subtests demonstrated inconsistent alignment with PPA classification. We conclude the WAB-R in isolation is inadequate to detect or characterize PPA. We instead suggest utilizing the WAB-R as 1 component of a comprehensive language and motor speech assessment when PPA is suspected. PMID: 31639312 [PubMed - as supplied by publisher]
Source: American Journal of Speech-Language Pathology - Category: Speech-Language Pathology Authors: Tags: Am J Speech Lang Pathol Source Type: research
Miles Forma really doesn’t like when people think he is stupid because he’s unable to talk. “I’ve had many experiences in my life where people assumed because I am a non-speaking person and sit in a wheelchair, I’m not intelligent,” Forma said recently using augmentative and alternative communication (AAC). The young man wasn’t saying this to just anybody. His audience included people with the power to change things—attendees at a major conference on disability at United Nations (UN) headquarters in New York a few weeks ago. Mike Froma addresses the United Nations Forma was a...
Source: American Speech-Language-Hearing Association (ASHA) Press Releases - Category: Speech-Language Pathology Authors: Tags: Academia & Research Advocacy Audiology Health Care News Private Practice Schools Slider Speech-Language Pathology Augmentative Alternative Communication Language Disorders Professional Development Speech Disorders Source Type: blogs
Miles Forma really doesn’t like when people think he is stupid because he’s unable to talk. “I’ve had many experiences in my life where people assumed because I am a non-speaking person and sit in a wheelchair, I’m not intelligent,” Forma said recently using augmentative and alternative communication (AAC). The young man wasn’t saying this to just anybody. His audience included people with the power to change things—attendees at a major conference on disability at United Nations (UN) headquarters in New York a few weeks ago. Mies Forma addresses the United Nations Forma was a...
Source: American Speech-Language-Hearing Association (ASHA) Press Releases - Category: Speech-Language Pathology Authors: Tags: Academia & Research Advocacy Audiology Health Care News Private Practice Schools Slider Speech-Language Pathology Augmentative Alternative Communication Language Disorders Professional Development Speech Disorders Source Type: blogs
Think about the last location where you provided clinical services. Mine was a grocery store. The produce section is not the only place I provide services  with my adult clients—I also address address speech intelligibility and social communication goals at coffee shops, money management at banks, divided attention at soup kitchens, sequencing at golf courses, and reading comprehension during book club at the library. These locations might seem unconventional, but they represent real-life community settings in which to help my clients—who mostly have acquired brain injuries or dementia—integrate back...
Source: American Speech-Language-Hearing Association (ASHA) Press Releases - Category: Speech-Language Pathology Authors: Tags: Private Practice Slider Speech-Language Pathology Cognitive Rehabilitation dementia Language Disorders Source Type: blogs
Novel Contribution of Secreted Amyloid-β Precursor Protein to White Matter Brain Enlargement in Autism Spectrum Disorder Deborah K. Sokol1, Bryan Maloney2, Cara J. Westmark3 and Debomoy K. Lahiri2,4* 1Pediatrics Section, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, United States2Indiana Alzheimers Disease Center, Department of Psychiatry, Stark Neuroscience Research Institute, Indiana University School of Medicine, Indianapolis, IN, United States3Department of Neurology, University of Wisconsin, Madison, WI, United States4Department of Medical and Molecular Genetics, Indiana Un...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Vincenzo Tigano1, Giuseppe Lucio Cascini2, Cristina Sanchez-Castañeda3, Patrice Péran4 and Umberto Sabatini5* 1Department of Juridical, Historical, Economic and Social Sciences, University of Magna Graecia, Catanzaro, Italy 2Department of Experimental and Clinical Medicine, University of Magna Graecia, Catanzaro, Italy 3Department of Clinical Psychology and Psychobiology, University of Barcelona, Barcelona, Spain 4ToNIC, Toulouse NeuroImaging Center, Université de Toulouse, Inserm, UPS, Toulouse, France 5Department of Medical and Surgical Sciences, University of Magna Graecia, Catanzaro, Ita...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
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