Results 41 to 50 of about 1,267,687 (231)

Dystonic Tremor as Main Clinical Manifestation of SCA21 [PDF]

Background: Spinocerebellar ataxia type 21 (SCA21) is a rare inherited neurological disorder characterized by motor, cognitive, and behavioral disturbances, caused by autosomal dominant TMEM240 variants.
Monfrini, Edoardo, Di Fonzo, Alessio, Yahya, Vidal, Baiata, Claudio, Moro, Elena, Brescia, Gloria, Correia, Sandrine   +6 more
core   +1 more source

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

Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect!

Annals of Indian Academy of Neurology
While ATPase Copper Transporting Beta (ATP7B), Dystonia-1 (DYT-1), Lysine (K) Methyl transferase 2B (KMT2B), and Adenylate Cyclase 5 (ADCY5) gene mutations are well-characterized causes of childhood-onset choreo-dystonic movement disorders, G protein ...
Manas Saxena, T Ashok V Reddy, Kaniti Sowjanya, V Mounika Reddy, Niraj Kumar   +4 more
doaj   +1 more source

FOCAL DYSTONIAS: NON-MOTOR SYMPTOMS AND COMORBIDITIES

Медицинский совет, 2017
Dystonia is a common extrapyramidal disease. It is characterized by both motor and non-motor manifestations, which include pain, sensory disorders and excessive physical activity.
V. A. Tolmachyova
doaj   +1 more source

Highly Repeatable Fibrous Crack‐Based Strain Sensor for Multichannel Continuous Tremor Monitoring in Parkinson's Disease and Essential Tremor

Advanced Science, EarlyView.
This study proposes a patch‐type tremor monitoring system based on high‐repeatable fibrous crack‐based strain sensor, capable of simultaneously measuring tremor in multiple locations such as thumb, index, and wrist. Through clinical trials involving Parkinson's disease and essential tremor patients, the proposed system demonstrates its potential as a ...
Chiwon Song, Chan Park, Juyoun Lee, Hojoong Kim, Jeongbeom Kang, Byeongjun Lee, Cheoljeong Park, Jungmin Kim, Haran Lee, Yoon Jae Lee, Min‐Kyung Yeo, Woon‐Hong Yeo, Seong J. Cho   +12 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Regional and Compartmental Changes Drive Progressive Patterns of Striatal Degeneration in X‐Linked Dystonia Parkinsonism

Annals of Neurology, EarlyView.
Objective Initially described in 1976, X‐linked dystonia parkinsonism (XDP) is a neurodegenerative disease that can be characterized by the presentation of dystonia and parkinsonism symptoms. Although this disease bears some resemblance to other neurodegenerative diseases in terms of symptomatology, the pathological signature of XDP is still unclear ...
Adelie Y.S. Tan, Nakhon. S.S.S. Thai, Christine J. Arasaratnam, Seung A. Han, Ellen B. Penney, Geraldine Acuña‐Sunshine, Cid Czarina E. Diesta, Mark C. Ang, Edwin Muñoz, Cara Fernandez‐Cerado, Victor Cleofas, G. Paul Legarda, Salvie Velasco, Michelle A. Sy, Clinton P. Turner, Mike Dragunow, Maurice A. Curtis, Ann. M. Graybiel, Richard L.M. Faull, Malvindar K. Singh‐Bains   +19 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

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  

NMDAR‐antibody encephalitis: Seizure semiology and EEG findings

Epileptic Disorders, EarlyView.
Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus, Bernard Liem, Sidra Aurangzeb, Mkael Symmonds, Adam E. Handel, Sarosh R. Irani, Arjune Sen   +6 more
wiley   +1 more source