Results 51 to 60 of about 1,100,883 (182)

Niemann-Pick disease type C: a case series of Brazilian patients

Arquivos de Neuro-Psiquiatria, 2014
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented.
Paulo José Lorenzoni, Elaine Cardoso, Ana C. S. Crippa, Charles Marques Lourenço, Fernanda Timm Seabra Souza, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Salmo Raskin, Isac Bruck, Cláudia S. K. Kay, Rosana H. Scola, Lineu C.Werneck, Hélio A. G. Teive   +12 more
doaj   +1 more source

Multimodel Diffusion MRI Signatures in Atypical Parkinsonian Disorders

Human Brain Mapping, Volume 47, Issue 11, 01 August 2026.
We implemented a diffusion MRI framework to analyze clinically compatible multishell data across 123 participants, including controls, Parkinson's disease (PD), corticobasal syndrome (CBS), and progressive supranuclear palsy Richardson's syndrome (PSP‐RS). Diffusion models included DTI, free‐water elimination (FWE), NODDI, and fixel‐based analysis (FBA)
Yuqi Tian, Farwa Ali, Mary M. Machulda, Val. J. Lowe, Keith A. Josephs, Jennifer L. Whitwell   +5 more
wiley   +1 more source

Pathway to Regulatory Approval of Digital Health Technologies in Progressive Supranuclear Palsy: A Scoping Review

Brain Sciences
Background/Objectives: Progressive supranuclear palsy (PSP) is an atypical Parkinsonian disorder characterized by Parkinsonism with gait imbalance, vertical gaze palsy, and frontal cognitive dysfunction.
Catherine Isroff, Kyurim Kang, Alberto J. Espay, Marian L. Dale, Alexander Pantelyat, Anne-Marie Wills, Chrystalina A. Antoniades   +6 more
doaj   +1 more source

A Brainstem Radiomics Framework to Distinguish Progressive Supranuclear Palsy from Parkinson's Disease

Movement Disorders, Volume 41, Issue 8, Page 2133-2142, August 2026.
Abstract Background Differentiating progressive supranuclear palsy (PSP) from Parkinson's disease (PD) can be clinically challenging. In the neuroimaging field, radiomics has emerged as a promising approach to capture subtle microstructural and textural image alterations, improving differential diagnoses.
Chiara Camastra, Jolanda Buonocore, Antonio Augimeri, Camilla Calomino, Maria Giovanna Bianco, Alessia Sarica, Pier Paolo Arcuri, Aldo Quattrone, Andrea Quattrone   +8 more
wiley   +1 more source

Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2010
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
doaj   +1 more source

Biomarker‐Based Diagnosis and Care Pathways for Alzheimer's Disease in the Era of Disease‐Modifying Treatments: A Consensus Statement by Belgian Experts

European Journal of Neurology, Volume 33, Issue 8, August 2026.
ABSTRACT Background The recent approval of disease‐modifying therapies (DMTs) for early Alzheimer's disease (AD) marks a major shift in clinical practice. Biomarker confirmation of amyloid pathology is now required alongside clinical assessment, and blood‐based tests are improving accessibility.
Tim Van Langenhove, Sara Van Mossevelde, Marijke Miatton, Jan De Lepeleire, Rose Bruffaerts, Jean Christophe Bier, Kurt Segers, Jurn Verschraegen, Mirko Petrovic, Manfredi Ventura, Haroun Jedidi, Ingo Beyer, Eric Mormont, Rik Vandenberghe, Aline Delva, Christian Gilles, Donatienne Van Weehaeghe, Gaëtane Picard, Peter De Deyn, Mélanie Strauss, Evert Thiery, Eric Salmon, Gert Cypers, Joris Vlaemynck, Katrin Gillis, Jan Versijpt, Maria Bjerke, Anne Sieben, Bernard Hanseeuw, Sebastiaan Engelborghs, Olivier Deryck, on behalf of the BeDeCo members   +31 more
wiley   +1 more source

Progressive Supranuclear Palsy

, 2020
Progressive Supranuclear Palsy (PSP) is a rare progressive neurodegenerative disorder that affects certain parts of the brain, resulting in difficulty with balance, walking, swallowing, and ...
NANOS
core  

Deciphering Freezing of Gait: What Neuropathology Reveals About an Episodic Phenomenon

European Journal of Neuroscience, Volume 63, Issue 12, June 2026.
Freezing of gait (FoG) occurs across Parkinson's disease, multiple neurodegenerative conditions and non‐neurodegenerative disorders. This review synthesizes the structural, neurochemical and proteinopathic substrates underlying FoG, showing how cumulative damage to distributed locomotor circuits—compounded by overlapping pathologies—progressively ...
Gabor G. Kovacs
wiley   +1 more source

Zolpidem in Progressive Supranuclear Palsy [PDF]

, 2013
Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disorder, characterized by motor symptoms, postural instability, personality changes, and cognitive impairment. There is no effective treatment for this disorder.
Sandip K. Dash, Sandip K. Dash
core   +1 more source

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Orphanet Journal of Rare Diseases, 2022
Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of the natural ...
Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot   +19 more
doaj   +1 more source