Results 131 to 140 of about 20,251 (253)

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, Volume 41, Issue 4, Page 928-936, April 2026.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

Atypical posterior canal benign paroxysmal positional vertigo mimicking anterior canal involvement: a case series and review of the literature. [PDF]

J Med Case Rep
Ajeti R, Ajeti A.
europepmc   +1 more source

PDXK‐Related Neuropathy: A Case With a Novel Splice‐Altering Missense Variant and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We report a patient carrying a novel missense variant c.826G>C, p.(Ala276Pro) found in compound heterozygous state with a previously reported variant in the PDXK gene. In silico analysis and our functional studies showed that the novel variant disrupts splicing, which leads to degradation of the aberrant transcript, thereby extending the known disease ...
Dmitrii Subbotin, Daria Akimova, Elena Dadali, Kristina Mikhalchuk, Artem Borovikov, Vitaly Kadyshev, Mikhail Skoblov, Aysylu Murtazina   +7 more
wiley   +1 more source

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]

Case Rep Pediatr
Niknam J, Petrosyan A, Agustin V, Shoubaki A.   +3 more
europepmc   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Unidirectional Palsy of Torsional Saccades in Ataxia Associated with Anti-GAD Antibody. [PDF]

Cerebellum
Kwon H, Kim HJ, Choi JY, Kim JS.
europepmc   +1 more source

Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
Different ATP13A2 mutations associated with Kufor‐Rakeb Syndrome (KRS) result in varying levels of intracellular iron accumulation. Frameshift and deletion mutations lead to excessive iron accumulation and increased cell death, whereas missense mutations cause milder functional impairment, resulting in lower iron accumulation and reduced cellular ...
Ezgi Erterek, Benan Temizci, Şeyma Tekgül, Bilal Çakır, A. Nazlı Başak, Murat Gültekin, Zuhal Yapıcı, Arzu Karabay   +7 more
wiley   +1 more source

Effect of Aminopyridines on Oculomotor Dysfunction in Anti-GAD Ataxia: A Brief Report. [PDF]

Cerebellum
Skacik P, Grofik M, Kurca E, Sivak S.
europepmc   +1 more source

Vestibular and Ocular Motor Phenotype in a Case of Paraneoplastic Autoimmune Kelch-Like Protein-11 Encephalitis. [PDF]

Neurol Neuroimmunol Neuroinflamm
Schwarz FK, Höftberger R, Endmayr V, Lukac I, Rommer PS, Rath J, Berger T, Milenkovic I, Wiest G.   +8 more
europepmc   +1 more source

USSR Space Life Sciences Digest, volume 1, no. 4 [PDF]

An overview of the developments and direction of the USSR Space Life Sciences Program is given. Highlights of launches, program development, and mission planning are given. Results of ground-based research and space flight studies are summarized.
Paulson, L. D.
core   +1 more source