Results 31 to 40 of about 10,678 (188)

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene [PDF]

Developmental Medicine & Child Neurology, 2010
Aim  Mutations in the SLC16A2 gene have been implicated in Allan–Herndon–Dudley syndrome (AHDS), an X‐linked learning disability* syndrome associated with thyroid function test (TFT) abnormalities. Delayed myelination is a non‐specific finding in individuals with learning disability whose genetic basis is often uncertain.
Gika, Artemis D., Siddiqui, Ata, Hulse, John (Anthony), Edward, Selvakumari, Fallon, Penny, Mcentagart, Meriel E., Jan, Wajanat, Josifova, Dragana, Lerman-Sagie, Tally, Drummond, James, Thompson, Edward, Refetoff, Samuel, Boennemann, Carsten G., Jungbluth, Heinz   +13 more
openaire   +3 more sources

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Probabilistic Lesion Mapping to Optimize Thalamotomy Targets for Focal Hand Dystonia

Annals of Neurology, EarlyView.
Objective Focal hand dystonia (FHD) severely impairs task‐specific motor control, yet the optimal surgical target for stereotactic intervention remains uncertain. This study aimed to identify the precise thalamic lesion site associated with symptomatic improvement and to clarify its network connectivity. Methods We retrospectively analyzed 164 patients
Masahiko Nishitani, Shiro Horisawa, Konstantin Butenko, Hiroki Togo, Arun Garimella, William Drew, Melissa Chua, Esraa Shaban, Takakazu Kawamata, Takaomi Taira, Andreas Horn, Michael D. Fox, Takashi Hanakawa   +12 more
wiley   +1 more source

Local Field Potential‐Based Programming: A Proof‐of‐Concept Pilot Study

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Programming deep brain stimulation (DBS) is still based on a trial‐and‐error approach, often becoming a time‐consuming process for both treating physicians and patients. Several strategies have been proposed to streamline DBS programming, most of which are preliminary and mainly address Parkinson's disease, a condition readily ...
Alfonso Fasano, Carolina Gorodetsky, Darcia Paul, Jürgen Germann, Aaron Loh, Han Yan, Peter L. Carlen, Sara Breitbart, Andres M. Lozano, George M. Ibrahim, Suneil K. Kalia   +10 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Acute dystonic reaction associated with increase in trazodone dose: a case report [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2014
Serotonergic drugs have been used for the treatment of various psychiatric disorders such as anxiety disorders, impulse control disorders and especially depression.
hatice harmanci, serap erdogan taycan, feryal cam celikel   +2 more
doaj  

Acute dystonia in a patient with 22q11.2 deletion syndrome

Mental Illness, 2015
The 22q11.2 deletion syndrome (di George syndrome) is one of the most prevalent genetic disorders. The clinical features of the syndrome are distinct facial appearance, velopharyngeal insufficiency, conotruncal heart disease, parathyroid and immune ...
Konstantinos Kontoangelos, Antonis Maillis, Maria Maltezou, Sofia Tsiori, Charalambos C. Papageorgiou   +4 more
doaj   +1 more source

Fetal Pain Perception: Legislative Assertions and Developmental Neuroscience

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Pain perception is a conscious experience, but neither pain nor consciousness is defined in the developing human fetus. Emergent consciousness may be regarded as a phenomenon that ultimately arises from an essential minimum of functional neuronal connectivity. Proposed U.S.
William D. Graf, Timothy M. Crombleholme, Leon G. Epstein, Dawn Gano, Phillip L. Pearl, Timothy V. Salomons, Mark S. Scher, Elise Turk, Klaus‐Peter Zimmer, Harvey B. Sarnat   +9 more
wiley   +1 more source

Structural and Functional Imaging of Motor Outcomes in Twins With Perinatal Stroke: A Case Report

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Perinatal arterial ischemic stroke (AIS) affects 1 in 4000 live births. Dystonia, affecting ~20% of children following AIS, is characterized by involuntary muscle contractions and abnormal movements. Why some develop dystonia post AIS, while others do not, remains unclear.
Prisca Hsu, Trish Domi, Cecilia Jobst, Min Sheng, Amanda Robertson, Erum Syed, Pradeep Krishnan, Douglas Cheyne, Nomazulu Dlamini   +8 more
wiley   +1 more source

Delayed emergence from anaesthesia and bilateral mydriasis following bilateral pallidotomy

Indian Journal of Anaesthesia, 2018
Pallidotomy is a surgical procedure done widely for Parkinson's disease and various dystonias refractory to medical treatment. The technique involves radiofrequency (RF) thermal coagulation of globus pallidus internus, either unilaterally or bilaterally.
Ankur Khandelwal, Mihir Prakash Pandia, Ritesh Lamsal   +2 more
doaj   +1 more source