Article
Clinical Neurology
Ee Ling Tan, Marlene Tahedl, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. Mclaughlin, Orla Hardiman, Kai Ming Chang, Eoin Finegan, Peter Bede
Summary: This study evaluated the structural and functional integrity of language-associated brain regions and networks in patients with PLS. The results showed cortical thickness reductions in language areas, alterations in fractional anisotropy and increased radical diffusivity in specific brain tracts. Functional connectivity changes were also observed.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Hulya Ulugut, Simone Stek, Lianne E. E. Wagemans, Roos J. Jutten, Maria Antoinette Keulen, Femke H. Bouwman, Niels D. Prins, Afina W. Lemstra, Welmoed Krudop, Charlotte E. Teunissen, Bart N. M. van Berckel, Rik Ossenkoppele, Frederik Barkhof, Wiesje M. van der Flier, Philip Scheltens, Yolande A. L. Pijnenburg
Summary: Primary progressive aphasia (PPA) is divided into three prototypical subtypes - semantic, non-fluent, and logopenic - each subtype progresses differently over time and has a relatively long disease duration.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Christopher R. S. Belder, Charles R. Marshall, Jessica Jiang, Salvatore Mazzeo, Anthipa Chokesuwattanaskul, Jonathan D. Rohrer, Anna Volkmer, Chris J. D. Hardy, Jason D. Warren
Summary: This article reviews recent progress in the diagnosis and management of primary progressive aphasia, the language-led dementias. It poses six key unanswered questions and suggests that linking proteinopathies to phenotypes may help resolve the clinical complexity of this disease.
JOURNAL OF NEUROLOGY
(2023)
Article
Immunology
Aitana Sogorb-Esteve, Imogen J. Swift, Ione O. C. Woollacott, Jason D. Warren, Henrik Zetterberg, Jonathan D. Rohrer
Summary: This study investigated the role of chemokines in primary progressive aphasias, revealing differential alterations in cerebrospinal fluid (CSF) and plasma across the PPA variants. The results suggest a potential role for neuroinflammation in these poorly understood sporadic disorders, indicating a potential therapeutic target for the future.
JOURNAL OF NEUROINFLAMMATION
(2021)
Article
Behavioral Sciences
Melissa D. Stockbridge, Donna C. Tippett, Bonnie L. Breining, Emilia Vitti, Argye E. Hillis
Summary: This study retrospectively analyzed 435 evaluations of individuals with primary progressive aphasia, finding that a battery of cognitive and linguistic assessments had varying sensitivity and specificity in distinguishing different variants. Naming assessments were identified as the strongest basis for distinguishing all variants.
Article
Clinical Neurology
Vincent Planche, Boris Mansencal, Jose V. Manjon, Thomas Tourdias, Gwenalle Catheline, Pierrick Coupe
Summary: This study describes the long-term anatomical progression of the three clinical variants of frontotemporal dementia (bvFTD, semantic dementia, and PNFA) using MRI data. The results show that subcortical atrophy precedes focal cortical atrophy in specific behavioral and/or language networks, with a radiological prodromal phase lasting 8-10 years.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Allegra Kawles, Yasushi Nishihira, Alex Feldman, Nathan Gill, Grace Minogue, Rachel Keszycki, Christina Coventry, Callen Spencer, Jaclyn Lilek, Kaouther Ajroud, Giovanni Coppola, Rosa Rademakers, Emily Rogalski, Sandra Weintraub, Hui Zhang, Margaret E. Flanagan, Eileen H. Bigio, M-Marsel Mesulam, Changiz Geula, Qinwen Mao, Tamar Gefen
Summary: This study provides a detailed characterization of the pathological distribution of TDP-43 and gliosis in FTLD-TDP-type C, and investigates the relationship between inclusions and neurodegeneration. The findings suggest an inverse relationship between the extent of TDP-positive inclusions and neuronal loss.
Review
Clinical Neurology
Justina Ruksenaite, Anna Volkmer, Jessica Jiang, Jeremy C. S. Johnson, Charles R. Marshall, Jason D. Warren, Chris J. D. Hardy
Summary: This review focuses on the key issues related to the diagnosis, disease stage assessment, proteinopathy phenotyping, core auditory impairments, treatment challenges, and pathophysiological features of each major variant of primary progressive aphasia (PPA). The new findings elucidating the pathophysiology of PPA represent significant progress in understanding these diseases, with implications for diagnosis, care, management, and therapies.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2021)
Article
Behavioral Sciences
Dario Saracino, Amandine Geraudie, Anne M. Remes, Sophie Ferrieux, Marie Nogues-Lassiaille, Simona Bottani, Lorenzo Cipriano, Marion Houot, Aurelie Funkiewiez, Agnes Camuzat, Daisy Rinaldi, Marc Teichmann, Jeremie Pariente, Philippe Couratier, Claire Boutoleau-Bretonniere, Sophie Auriacombe, Frederique Etcharry-Bouyx, Richard Levy, Raffaella Migliaccio, Eino Solje, Isabelle Le Ber
Summary: This study comprehensively analyzed 16 patients with PPA-C9orf72, revealing linguistic deficits and patterns of grey-matter atrophy. In addition to the common non-fluent/agrammatic variant, semantic and mixed forms of PPA were also observed. The study highlights the role of C9orf72 mutation in disrupting the anterior parts of the language network and provides guidelines for genetic testing in PPA patients.
Article
Biology
Catherine Brodeur, Emilie Belley, Lisa-Marie Deschenes, Adriana Enriquez-Rosas, Michelyne Hubert, Anik Guimond, Josee Bilodeau, Jean-Paul Soucy, Joel Macoir
Summary: This study focused on three patients with language complaints and clinical profiles consistent with posterior cortical atrophy (PCA). The results showed that PCA is characterized by visuospatial and visuoperceptual deficits, as well as primary and secondary language impairments in these patients.
Article
Clinical Neurology
Miguel Tabuas-Pereira, Isabel Santana, Maria Rosario Almeida, Joao Duraes, Marisa Lima, Diana Duro, Celia Kun-Rodrigues, Jose Bras, Rita Guerreiro
Summary: In this study, TP73 variants were investigated in a cohort of 65 Portuguese patients with frontotemporal dementia. Two patients were found to have rare variants in TP73, and both displayed a phenotype characterized by language impairment. This study provides further evidence for the role of TP73 in the ALS-FTD spectrum.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Ignacio Illan-Gala, Victor Montal, Sergi Borrego-Ecija, Maria Luisa Mandelli, Neus Falgas, Ariane E. Welch, Jordi Pegueroles, Miguel Santos-Santos, Alexandre Bejanin, Daniel Alcolea, Oriol Dols-Icardo, Olivia Belbin, M. Belen Sanchez-Saudinos, Nuria Bargallo, Sofia Gonzalez-Ortiz, Albert Llado, Rafael Blesa, Bradford C. Dickerson, Howard J. Rosen, Bruce L. Miller, Alberto Lleo, Maria Luisa Gorno-Tempini, Raquel Sanchez-Valle, Juan Fortea
Summary: Cortical mean diffusivity shows promise as a sensitive biomarker for the study of the neurodegeneration-related microstructural changes in primary progressive aphasia (PPA). Increases in cortical mean diffusivity are correlated with cortical thinning and disease severity in PPA patients.
ALZHEIMERS RESEARCH & THERAPY
(2022)
Article
Clinical Neurology
Chris J. D. Hardy, Cathleen Taylor-Rubin, Beatrice Taylor, Emma Harding, Aida Suarez Gonzalez, Jessica Jiang, Laura Thompson, Rachel Kingma, Anthipa Chokesuwattanaskul, Ffion Walker, Suzie Barker, Emilie Brotherhood, Claire Waddington, Olivia Wood, Nikki Zimmermann, Nuriye Kupeli, Keir X. X. Yong, Paul M. Camic, Joshua Stott, Charles R. Marshall, Neil P. Oxtoby, Jonathan D. Rohrer, Anna Volkmer, Sebastian J. Crutch, Jason D. Warren
Summary: We aimed to create a symptom-led staging system for primary progressive aphasia (PPA) to address the challenges not captured by existing functional scales. An international PPA caregiver cohort was surveyed, and the feedback was analyzed to develop a prototype functional impairment scale called PPA-Squared. This study has implications for diagnostic guidelines, care pathways, trial design, and personalized prognosis and treatment for PPA.
ALZHEIMERS & DEMENTIA
(2023)
Review
Geriatrics & Gerontology
Imogen J. Swift, Martina Bocchetta, Hanya Benotmane, Ione O. C. Woollacott, Rachelle Shafei, Jonathan D. Rohrer
Summary: TBK1 mutations have been associated with clinical syndromes across the whole FTD-ALS-atypical parkinsonism spectrum, including ALS syndrome, FTD-ALS overlap, cognitive presentations, and atypical parkinsonism. TBK1 may be pathogenic by causing truncated proteins.
NEUROBIOLOGY OF AGING
(2021)
Article
Geriatrics & Gerontology
Christopher B. Morrow, Jeannie-Marie Sheppard Leoutsakos, Chiadi U. Onyike
Summary: This study describes the chronology of functional disabilities in primary progressive aphasia (PPA) and investigates the associations between psychiatric comorbidities and functional disabilities. The findings provide guidance for clinicians to predict disabilities and target interventions in PPA.
AMERICAN JOURNAL OF GERIATRIC PSYCHIATRY
(2022)