Results 121 to 130 of about 62,463 (295)

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

Case Reports in Endocrinology, 2018
Background. Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function.
N. B. Toppings, J. M. McMillan, P. Y. B. Au, O. Suchowersky, L. E. Donovan   +4 more
doaj   +1 more source

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

A Case of Bilateral Optic Nerve Atrophy

, 2007
Bilateral optic atrophyA 2 1/2-year old male with bilateral optic atrophy, multi-system abnormalities, tonic-clonic seizures, spastic paresis, sensorineural hearing loss and ataxia.VA: 20/60 OD, 20/70 OS (age 5)CT; MRIBiotinidase deficiencyVitamin B ...
Thomas N. Hwang, MD; Timothy J. McCulley, MD
core  

Does Disruption of Optic Atrophy-1 (OPA1) Contribute to Cell Death in HL-1 Cardiomyocytes Subjected to Lethal Ischemia-Reperfusion Injury? [PDF]

Cells, 2022
Kulek AR, Undyala VVR, Anzell AR, Raghunayakula S, MacMillan-Crow LA, Sanderson TH, Przyklenk K.   +6 more
europepmc   +1 more source

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Molecular vision, 2013
Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary optic neuropathy.A cohort of 193 Chinese families with suspected ...
Yabin, Chen, Xiaoyun, Jia, Panfeng, Wang, Xueshan, Xiao, Shiqiang, Li, Xiangming, Guo, Qingjiong, Zhang   +6 more
openaire   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

, 2006
OBJECTIVE: Charcot-Marie-Tooth (CMT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor and sensory neuropathy type VI (HMSN VI).
Cherninkova, Sylvia, Jeffery Stajich, de Visser, Marianne, Hamilton, Steven R., Züchner, Stephan, Albena Jordanova, Jeffery M. Vance, HAMILTON, Steven R, Stephan Züchner, Ivajlo Tournev, Kristl G. Claeys, Baas, Frank, Vance, Jeffery M., Karen M. Krajewski, Marianne de Visser, Stajich, Jeffery, Timmerman, Vincent, Steven R. Hamilton, Vincent Timmerman, Guergueltcheva, Velina, Claeys, Kristl, Krajewski, Karen M., Thomas Bird, Sylvia Cherninkova, Verhoeven, Kristien, CLAEYS, Kristl G, Shy, Michael, LANGERHORST, Christine T, Jordanova, Albena, Peter De Jonghe, Langerhorst, Christine T., Greg Van Stavern, KRAJEWSKI, Karen M, Claeys, Kristl G., Christine T. Langerhorst, van Stavern, Greg, Bird, Thomas, Kristien Verhoeven, Frank Baas, de Jonghe, Peter, Z\ufcchner, Stephan, Michael Shy, VANCE, Jeffery M, Tournev, Ivajlo, Velina Guergueltcheva   +44 more
core   +1 more source

Risk of Non‐Arteritic Anterior Ischemic Optic Neuropathy in Idiopathic Intracranial Hypertension Patients Treated with GLP‐1 Receptor Agonists

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi, Mohanad A. Alkuwaiti, Yazeed B. Alaql, Ahmed K. Alsaif, Ahmed A. Alessa, Meshari Ayed Alharbi, Mohammed Alfalah, Saud A. Alnaaim, Sajjad M. AlHaddad, Ahmed Y. Azzam   +9 more
wiley   +1 more source

[Long noncoding RNA H19 promotes vascular calcification by repressing the Bax inhibitor 1/optic atrophy 1 pathway]. [PDF]

Nan Fang Yi Ke Da Xue Xue Bao, 2023
Chen W, DU H, Sha Y, Zhou Y, Liang J, Chen Y, Ma Q, Wu X, Qian G.   +8 more
europepmc   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source