Results 61 to 70 of about 186,376 (313)

An unusual neurologic presentation of pediatric neuroinvasive West Nile virus infection: ophthalmoplegia

The Turkish Journal of Pediatrics, 2021
Background. West Nile virus (WNV) is an uncommon arbovirus infection and is usually asymptomatic in pediatric patients and due to its rarity is not very well known by clinicians. Case.
Senem Ayça, Gülşen Akkoç, Halit Özdemir, Hatice Nilgün Selçuk-Duru   +3 more
doaj   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan [PDF]

, 2009
16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5' untranslated region of the puratrophin-1 gene. In Nagano, the central mountainous district of
Sato, Shunichi, Shimizu, Yusaku, Sakai, Haruya, Okano, Tomomi, Ikeda, Shu-ichi, Hattori, Takeshi, Ohara, Shinji, Tabata, Kenichi, Matsumoto, Naomichi, Inoue, Atsushi, Morita, Hiroshi, Ushiyama, Masao, Nakamura, Katsuya, Tazawa, Ko-ichi, Shimojima, Yasuhiro, Yoshida, Kunihiro, Ohata, Takako   +16 more
core   +1 more source

Test–retest reliability of the Friedreich’s ataxia rating scale

Annals of Clinical and Translational Neurology, 2020
The modified Friedreich Ataxia Rating Scale (mFARS) is a disease specific, exam‐based neurological rating scale commonly used as a outcome measure in clinical trials.
Christian Rummey, Theresa A. Zesiewicz, Santiago Perez‐Lloret, Jennifer M. Farmer, Massimo Pandolfo, David R. Lynch   +5 more
doaj   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

, 2006
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Pinto, Ricardo Mouro, Blake, Julian, Al-Mahdawi, S, Lowrie, Margaret B., Hughes, Sian, Pook, Mark A., Webster, Zoe, Varshney, Dhaval, Pook, MA, Lawrence, Lorraine, King, Rosalind, Cooper, J. Mark, Al-Mahdawi, Sahar, Mouro Pinto, R   +13 more
core   +1 more source

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) [PDF]

, 2019
Introduction: Currently, no treatment that delays with the progression of Friedreich ataxia is available. In the majority of patients Friedreich ataxia is caused by homozygous pathological expansion of GAA repeats in the first intron of the FXN gene ...
Schöls, L, Schoels, Ludger, Boesch, Sylvia A., Klockgether, T, Molenberghs, Geert, Hilgers, R-D, Schöls, Ludger, Rodríguez de Rivera Garrido, FJ, Didszun, C, Durr, Alexandra, Festenstein, Richard, Schulz, Jörg B, Dohmen, Marc, Schulz, Joerg B., Boesch, S, Isfort, Susanne, Korinthenberg, R, Schulz, Jörg B., Garrido, Francisco Javier Rodriguez de Rivera, Kistermann, Jennifer, Durr, A, Reetz, K, Dohmen, M, Korinthenberg, Rudolf, Pandolfo, Massimo, Mariotti, Caterina, Giunti, Paola, Fedosov, K, Hilgers, Ralf-Dieter, Klockgether, Thomas, Rodríguez de Rivera Garrido, Francisco Javier, Pandolfo, M, Didszun, Claire, Giunti, P, Lavin, P, Kistermann, J, Mariotti, C, Boesch, Sylvia, Fedosov, Kathrin, Isfort, S, Schulz, JB, Reetz, Kathrin, Festenstein, R, EFACTS or NICOFA study group, Lavin, Philip, Klopstock, Thomas, Libri, Vincenzo, Klopstock, T, Molenberghs, G, Libri, V   +49 more
core   +1 more source

Calcium Deregulation: Novel Insights to Understand Friedreich’s Ataxia Pathophysiology

Frontiers in Cellular Neuroscience, 2018
Friedreich’s Ataxia (FRDA) is a neurodegenerative disorder, characterized by degeneration of dorsal root ganglia, cerebellum and cardiomyopathy. Heart failure is one of the most common causes of death for FRDA patients.
Rosella Abeti, Alexander F. Brown, Marta Maiolino, Sandip Patel, Paola Giunti   +4 more
doaj   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Etiology of Acute Ataxia in Children: A Single Center Experience

, 2022
Introduction:Acute ataxia often develops due to mild and self-limiting disorders, but can also result from serious life-threatening disorders. However, limited data are available on its etiology, especially in developing countries.
Tanju Çelik, Müge Baykan, Ünsal Yılmaz   +2 more
core   +1 more source