Results 21 to 30 of about 1,057,814 (256)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

An autosomal dominant optic atrophy: Kjer type [PDF]

Revista Brasileira de Oftalmologia
We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina, Natália Carneiro de Freitas   +1 more
doaj   +1 more source

Wolfram syndrome: new pathophysiological insights and therapeutic strategies

Therapeutic Advances in Rare Disease, 2021
Wolfram Syndrome (WS) is an ultra-rare, progressive neurodegenerative disease characterized by early-onset diabetes mellitus and irreversible loss of vision, secondary to optic nerve degeneration.
Ratnakar Mishra, Benson S. Chen, Prachi Richa, Patrick Yu-Wai-Man   +3 more
doaj   +1 more source

CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

Molecular Therapy: Nucleic Acids, 2021
Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy in the United Kingdom. DOA has an insidious onset in early childhood, typically presenting with bilateral, central visual loss caused by the preferential loss of retinal
Paul E. Sladen, Pedro R.L. Perdigão, Grace Salsbury, Tatiana Novoselova, Jacqueline van der Spuy, J. Paul Chapple, Patrick Yu-Wai-Man, Michael E. Cheetham   +7 more
doaj   +1 more source

Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency

Brain Sciences, 2022
(1) Background: Riboflavin transporter deficiency (RTD), formerly known as Brown–Vialetto–Van Laere syndrome, is a rare condition that causes a progressive neurological syndrome in early life with features of auditory and optic neuropathy, weakness of ...
Lin Zhang, Dominic Thyagarajan
doaj   +1 more source

GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder

Frontiers in Clinical Diabetes and Healthcare, 2023
WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe.
Eleonora Panfili, Giulio Frontino, Maria Teresa Pallotta   +2 more
doaj   +1 more source

Relationship Between Peripapillary Atrophy and Optic Disc Parameters in Eyes with Primary Open-Angle Glaucoma

, 2011
Pur po se: To evaluate the relationship between peripapillary atrophy and optic disc parameters measured by Heidelberg Retina Tomography (HRT) and visual field findings in eyes with primary open-angle glaucoma.
Gülizar Soyugelen, İzzet Can, Hale Çelik, Tamer Takmaz   +3 more
core   +1 more source

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

Frontiers in Neurology, 2021
The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric α-β-γ protein complex. The α3 isoform is required as a rescue pump, after repeated action potentials, with a distribution predominantly in neurons of the central nervous system.
Philippe A. Salles, Philippe A. Salles, Ignacio F. Mata, Tobias Brünger, Dennis Lal, Hubert H. Fernandez   +5 more
doaj   +1 more source

A clinical study of optic atrophy [PDF]

, 2022
Methods and materials:50 patients of optic atrophy attended to ophthalmology outpatient department from November 2019 to May 2021 were enquired about history of present illness, ingestion of toxic substances, Tobacco, alcohol, and examined for visual ...
Kola Vijaya Sekhar, M. Nirmala, G. S. Ramesh Kumar, P.D.S.Keerthi   +3 more
core   +1 more source

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

BMC Medical Genetics, 2019
Background Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A.
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh   +7 more
doaj   +1 more source