Results 61 to 70 of about 1,100,883 (182)

Validation of mobile eye tracking as novel and efficient means for differentiating progressive supranuclear palsy from Parkinson’s disease

Frontiers in Behavioral Neuroscience, 2012
Background: The decreased ability to carry out vertical saccades is a key symptom of Progressive Supranuclear Palsy (PSP). Objective measurement devices can help to reliably detect subtle eye-movement disturbances to improve sensitivity and specificity ...
Svenja eMarx, Gesine eRespondek, Gesine eRespondek, Maria eStamelou, Maria eStamelou, Stefan eDowiasch, Josef eStoll, Frank eBremmer, Wolfgang H Oertel, Günter U Höglinger, Günter U Höglinger, Günter U Höglinger, Wolfgang eEinhauser, Wolfgang eEinhauser   +13 more
doaj   +1 more source

Video-oculographic biomarkers for evaluating vertical ocular dysfunction in progressive supranuclear palsy

, 2022
Introduction: Progressive supranuclear palsy (PSP) patients show reduced amplitude and velocity of vertical saccades, but saccadic abnormalities have also been reported in Parkinson's disease (PD).
Gramigna V, Crasa M, Vescio B, Quattrone A, Morelli M, Augimeri A   +5 more
core   +1 more source

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

Frontiers in Neurology, 2018
ObjectivesTo evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3).
Tatiana Bremova-Ertl, Tatiana Bremova-Ertl, Raphael Schiffmann, Marc C. Patterson, Marc C. Patterson, Marc C. Patterson, Nadia Belmatoug, Thierry Billette de Villemeur, Stanislavs Bardins, Claudia Frenzel, Claudia Frenzel, Věra Malinová, Silvia Naumann, Juliane Arndt, Eugen Mengel, Jörg Reinke, Ralf Strobl, Ralf Strobl, Michael Strupp, Michael Strupp   +19 more
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos [PDF]

, 2017
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized.
Zheyu Xu, Louis C.S. Tan, Tchoyoson C.C. Lim, Wing Lok Au   +3 more
core   +2 more sources

Phenotypic and Genotypic Variability in Niemann-Pick Type C: A Brazilian Case Series [PDF]

Journal of Inborn Errors of Metabolism and Screening
Niemann-Pick disease type C (NPC) disease is a lysosomal storage disorder caused by alterations in the trafficking of unesterified cholesterol due to mutations in the NPC1 and NPC2 genes. Its manifestations can be visceral, neurological, and psychiatric.
Marcela L. Almeida, Carolina A. R. Funayama, Wilson Marques, Carla A. C. T. Caldas, Charles M. Lourenço, Ana P. A. Hamad, Guillermo A. A. Traslaviña   +6 more
doaj   +1 more source

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, Volume 56, Issue 5, Page 832-848, May 2026.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

Orphanet Journal of Rare Diseases, 2020
Background Niemann-Pick disease Type C (NP-C) is a rare, progressive neurodegenerative disorder characterized by progressive neurodegeneration and premature death.
Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg, Mercedes Pineda   +5 more
doaj   +1 more source

Neuroprotection trial design in progressive supranuclear palsy: challenges and solutions

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 12, Issue 2, April/June 2026.
Abstract INTRODUCTION We review the specific challenges posed to neuroprotective trial design by progressive supranuclear palsy (PSP), a rare disorder difficult to diagnose and to assess quantitatively. METHODS Focusing on reducing the size and cost of trials, we review elements of PSP neuroprotection trial methodology and formulate a new minimum ...
Lawrence I. Golbe, Ronald G. Thomas
wiley   +1 more source

Supranuclear Vertical Gaze Palsy

, 1977
Global Supranuclear Vertical Gaze Palsy; Convergence absent; Prominent Stare; Slow Hypometric Horizontal Saccades; Slow Horizontal Pursuit; Vertical Oculocephalic Reflex Normal; Positive Glabella TapProgressive Supranuclear Palsy: https://collections ...
Shirley H. Wray, MD, PhD, FRCP
core