Results 51 to 60 of about 166 (149)

Vision and sensorimotor defects associated with loss of Vps11 function in a zebrafish model of genetic leukoencephalopathy

Scientific Reports, 2022
Genetic Leukoencephalopathies (gLEs) are heritable white matter disorders that cause progressive neurological abnormalities. A founder mutation in the human endolysosomal trafficking protein VPS11 has been identified in Ashkenazi Jewish patients ...
Shreya Banerjee, Lillian E. Ranspach, Xixia Luo, Lauren T. Cianciolo, Joseph Fogerty, Brian D. Perkins, Ryan Thummel   +6 more
doaj   +1 more source

Orofacial Drinking Tremor: A Case Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Task‐specific orofacial tremor is a rare condition in which rhythmic oscillations of orofacial muscles occur during specific actions. Drinking tremor represents a recurrent pattern in isolated reports, although its phenomenology and underlying mechanisms remain incompletely defined.
Daniele Birreci, Luca Angelini, Simone Aloisio, Anna S. Grandolfo, Sara Cirinei, Adriana Martini, Martina De Riggi, Matteo Bologna   +7 more
wiley   +1 more source

Atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by TUBB4A mutation: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI：10.3969/j.issn.1672⁃6731.2019.11 ...
Jing⁃yuan QIE, Qiang WANG, Lu⁃ping SONG   +2 more
doaj  

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

Hypomyelinating disorders: An MRI approach

Neurobiology of Disease, 2016
In recent years, the concept of hypomyelinating disorders has been proposed as a group of disorders with varying systemic manifestations that are identified by MR findings of absence or near absence of the T2 hypointensity that develops in white matter ...
A. James Barkovich, Sean Deon
doaj   +1 more source

Real‐World Safety and Effectiveness of Glatiramer Acetate in Patients With Multiple Sclerosis: Final Results of Post‐Marketing Surveillance in Japan

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Background Glatiramer acetate is an injectable disease‐modifying therapy indicated for multiple sclerosis (MS). Aim To evaluate the real‐world safety and effectiveness of glatiramer acetate for MS in Japan. Methods A prospective, multicenter, observational, all‐case post‐marketing survey was conducted in Japan between November 2015 and March ...
Masaaki Niino, Eriko Hayashi, Mai Itani, Jun‐ichi Kira   +3 more
wiley   +1 more source

Hallazgo por neuroimaginología de microangiopatía cerebral retiniana con calcificaciones y quistes

Biomédica: revista del Instituto Nacional de Salud, 2014
La microangiopatía cerebral retiniana con calcificaciones y quistes es una enfermedad poco frecuente, caracterizada por alteraciones cerebrales, retinianas y óseas, así como por predisposición al sangrado gastrointestinal. Existen pocos reportes de casos
Diego Alberto Herrera, Sergio Alberto Vargas, Claudia Montoya   +2 more
doaj   +1 more source

Infection risk in rheumatoid arthritis patients treated with biologic and targeted therapies

Rheumatology &Autoimmunity, EarlyView.
In this context, infections associated with each biologic and targeted drug are summarized to inform the stratification of RA patients, including the characteristics of the susceptible patients and their concomitant therapy. We aim to provide a benefit‐risk analysis for clinical decision, and vital indications for the prevention of highly correlated ...
Lujing Wang, Jieshi Lin, Jie Qian
wiley   +1 more source

When exome analysis is the key for your patient with cognitive decline: a case report [PDF]

Dementia & Neuropsychologia
Vanishing white matter (VWM) disease is a leukodystrophy caused by mutations in EIF2B1–5 genes, which impair cellular stress responses and protein synthesis regulation, leading to astrocytic dysfunction and white matter degeneration.
Antonio Avelino Mendes Filho, Igor Fortunato da Silva, Daniel Santos Uchoa, Isabela Caldeira de Oliveira, Julian Leticia de Freitas, Maria Sheila Guimarães Rocha, Sonia Maria Dozzi Brucki   +6 more
doaj   +2 more sources

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source