Results 81 to 90 of about 32,013 (193)

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Orphanet Journal of Rare Diseases, 2011
Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar ...
Fujioka Shinsuke, Whaley Nathaniel, Wszolek Zbigniew K   +2 more
doaj   +1 more source

Implications for soluble iron accumulation, oxidative stress, and glial glutamate release in motor neuron death associated with sporadic amyotrophic lateral sclerosis

Neuropathology, EarlyView.
Oxidative stress in sporadic amyotrophic lateral sclerosis (ALS) has been evidenced by accumulation of oxidatively modified products of nucleic acids, lipids, sugars, and proteins in the motor neuron system of brains and spinal cords obtained at autopsy from the patients.
Noriyuki Shibata, Ikuko Kataoka, Yukinori Okamura, Kumiko Murakami, Yoichiro Kato, Tomoko Yamamoto, Kenta Masui   +6 more
wiley   +1 more source

Scrub typhus‐associated movement and gait disorders: A systematic review with principal component analysis and in silico mechanistic modelling

Tropical Medicine &International Health, EarlyView.
Abstract Background Orientia tsutsugamushi, the causative agent of scrub typhus, is increasingly recognised for its neurological complications. Among these, movement and gait disorders are poorly understood. We systematically examined their clinical spectrum and explored underlying mechanisms through in‐silico protein–protein interaction modelling ...
Ritwick Mondal, Shramana Deb, Mrinmay Dhauria, Purbita Sen, Vramanti Sarkar, Shramana Sarkar, Dipanjan Chowdhury, Durjoy Lahiri, Jayanta Roy, Julián Benito‐León   +9 more
wiley   +1 more source

Estimated Incidence of Ophthalmic Conditions Associated with Optic Nerve Disease in Middle Tennessee [PDF]

arXiv, 2017
Aims. The objective of this paper is to determine the incidence of ophthalmic disease potentially leading to optic nerve disease in Middle Tennessee. Methods. We use a retrospective population-based incidence study design focusing on the population of middle Tennessee and its nearby suburbs (N=3 397 515). The electronic medical records for all patients
arxiv  

Magnetic Nanoparticles for Neural Engineering [PDF]

Thanh, Nguyen TK (ed.). Clinical applications of magnetic nanoparticles: From Fabrication to Clinical Applications. CRC press, 2018
Magnetic nanoparticles (MNPs) are the foundation of several new strategies for neural repair and neurological therapies. The fact that a remote force can act on MNPs at the cytoplasmic space constitutes the essence of many new neurotherapeutic concepts. MNPs with a predesigned physicochemical characteristic can interact with external magnetic fields to
arxiv   +1 more source

Correlation between infectivity and disease associated prion protein in the nervous system and selected edible tissues of naturally affected scrapie sheep.

PLoS ONE, 2015
The transmissible spongiform encephalopathies (TSEs) or prion diseases are a group of fatal neurodegenerative disorders characterised by the accumulation of a pathological form of a host protein known as prion protein (PrP).
Francesca Chianini, Gian Mario Cosseddu, Philip Steele, Scott Hamilton, Jeremy Hawthorn, Sílvia Síso, Yvonne Pang, Jeanie Finlayson, Samantha L Eaton, Hugh W Reid, Mark P Dagleish, Michele Angelo Di Bari, Claudia D'Agostino, Umberto Agrimi, Linda Terry, Romolo Nonno   +15 more
doaj   +1 more source

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

Supervised Segmentation with Domain Adaptation for Small Sampled Orbital CT Images [PDF]

arXiv, 2021
Deep neural networks (DNNs) have been widely used for medical image analysis. However, the lack of access a to large-scale annotated dataset poses a great challenge, especially in the case of rare diseases, or new domains for the research society. Transfer of pre-trained features, from the relatively large dataset is a considerable solution.
arxiv  

Ocular sequelae from the illicit use of class A drugs [PDF]

, 2004
Aim: To highlight the changes that may take place in the visual system of the class A drug abuser. Methods: A literature review was carried out of ocular/visual sequelae of the more common class A drugs.
Firth, A.Y.
core  

Clinical neuropathology of early‐stage Pick's disease initially diagnosed as depressive disorder: A case report and case series comparison

Psychiatry and Clinical Neurosciences Reports, Volume 4, Issue 2, June 2025.
This case of a 56‐year‐old patient who presented with apathy and few typical behavioral symptoms was initially diagnosed with depressive disorder. Postmortem examination revealed numerous Pick bodies (which were immunopositive for phosphorylated tau and 3‐repeat tau but negative for 4‐repeat tau), focal atrophy in the frontal lobes, and resulted in a ...
Araki Kimura, Ito Kawakami, Kenji Ikeda, Akito Nagakura, Kazuhiro Niizato, Kenichi Oshima, Tadafumi Kato, Masato Hasegawa   +7 more
wiley   +1 more source