Results 151 to 160 of about 108,556 (256)

GAA‐FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult‐Onset Ataxia

Clinical Genetics, Volume 110, Issue 3, Page 358-362, September 2026.
GAA‐FGF14 ataxia is a frequent cause of both familial and sporadic cerebellar ataxia. If symptoms are consistent, targeted testing of the FGF14 locus should be considered as a first‐line approach, as the diagnostic yield is up to 50%. ABSTRACT GAA‐FGF14 ataxia (spinocerebellar ataxia 27B, SCA27B), identified in 2023, is a major cause of adult‐onset ...
Eva‐Maria Kraus, Johannes Lenz, Pauline Ploettner, Patricia Duffek, Jost‐Julian Rumpf, Rami Abou Jamra, John Wiedenhoeft, Denny Popp   +7 more
wiley   +1 more source

Evaluation of the effect of brinzolamide 1% ophthalmic suspension on nystagmus using videonystagmography. [PDF]

Indian J Ophthalmol
Kassem RR, Hamdy HS, Hassanein DH, El-Mofty RMA.   +3 more
europepmc   +1 more source

Congenital Nystagmus - Latent Nystagmus

, 1978
Latent Nystagmus; Fusional Maldevelopment Nystagmus SyndromeMonocular Blind VisionThis boy was not recognized to have nystagmus until he accidentally discovered that he had blurred vision in one eye while pulling a sweater off over his head and blocking
Shirley H. Wray, MD, PhD, FRCP
core  

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

A Unique Case of Psychogenic Binocular Diplopia. [PDF]

Case Rep Ophthalmol Med
Johnson BP.
europepmc   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2288-2292, September 2026.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Deep Brain Stimulation: A Window Into the Neural Mechanisms of Latent Nystagmus. [PDF]

Invest Ophthalmol Vis Sci
Agharazi H, Guha A, Shaikh AG, Ghasia FF.   +3 more
europepmc   +1 more source

A Comparison of Nystagmus and Saccadic Intrusions/Oscillations

, 2017
Nystagmus can be classified into pendular and jerk waveforms, where both are generated by a slow, pathologic phase. Corrective phase (the position reset mechanism) differs.
Roksolyana Tourkevich, MD; Daniel R. Gold, DO
core  

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source