Results 181 to 190 of about 25,279 (271)

Frontotemporal dementia: Clinical aspects, genetics, and neuropathology of a family with a C9ORF72 expansion in Argentina

Brain Pathology, Volume 36, Issue 3, May 2026.
Immunohistochemistry for TDP‐43: (A)—Dentate gyrus; (B)—Temporal lobe. Abstract Frontotemporal dementia (FTD) is the second most common cause of early‐onset dementia, typically manifesting before the age of 65, with a mean onset at 58 years. FTD may encompass a spectrum of neurodegenerative disorders resulting from frontotemporal lobar degeneration ...
Karen Daniela Román, Carolina Agata Ardohain, Ezequiel I. Surace, Mónica Beatriz Mezmezian, Alejandro Levy, Alice Baez Lovera, Carlos Turizo, Marcos G. Sorbara, María M. Esnaola y Rojas, Gastón H. Graviotto, Gustavo Sevlever, Ricardo F. Allegri, Cecilia M. Serrano, Nahuel Magrath Guimet   +13 more
wiley   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, Volume 99, Issue 4, Page 883-896, April 2026.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

Diagnostic Spectrum in an "Atypical" Atypical Parkinsonism Syndrome Cohort: A Single Center Experience. [PDF]

J Mov Disord
Katragadda P, Holla VV, Kamble N, Mahale RR, Yadav R, Pal PK.   +5 more
europepmc   +1 more source

Brain dysfunction in gait disorders of Caribbean atypical Parkinsonism and progressive supranuclear palsy patients: A comparative study. [PDF]

Neuroimage Clin, 2023
Welter ML, Vasseur A, Edragas R, Chaumont H, Pineau F, Mangone G, Olivier C, Leber I, Rivaud-Pechoux S, Lehericy S, Gallea C, Yahia-Cherif L, Lannuzel A.   +12 more
europepmc   +1 more source

Decades of Misdiagnosis as Myasthenia Gravis: Late‐Onset POLG‐Related Ophthalmoplegia Unveiled by Whole‐Genome Sequencing

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT A 55‐year‐old male developed POLG‐related ophthalmoplegia in 2015 and was misdiagnosed with seronegative myasthenia gravis for 10 years. Whole‐genome sequencing identified compound heterozygous POLG mutations, highlighting its value in diagnosing refractory neuromuscular disorders.
Tanli Lu, Huadong Lv, Xiaodan Luo, Xiuying Liu   +3 more
wiley   +1 more source

Comparison of Two α-Synuclein Seed Amplification Assays for Discrimination of Parkinson Disease and Atypical Parkinsonism. [PDF]

Mov Disord
Rossi M, Farris CM, Baiardi S, Giannini G, Magliocchetti F, Sambati L, Ma Y, Vittoriosi E, Calandra-Buonaura G, Concha-Marambio L, Parchi P.   +10 more
europepmc   +1 more source

Rapidly Progressive ALS with Atypical Parkinsonism: An Unusual Case of Multisystem Proteinopathy from India. [PDF]

Ann Indian Acad Neurol, 2023
Halani HA, Saini PK, Chavan P, Mansukhani KA, Khadilkar SV.   +4 more
europepmc   +1 more source

Atypical juvenile parkinsonism [PDF]

, 2020
openaire   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, Volume 11, Issue 2, Page 643-651, April 2026.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

Cutaneous nerve fiber pathology and function in Parkinson's disease and atypical parkinsonism - a cohort study. [PDF]

NPJ Parkinsons Dis
Andréasson M, Paslawski W, Terkelsen AJ, Samuelsson K, Zetterberg H, Blennow K, Karlsson P, Svenningsson P.   +7 more
europepmc   +1 more source