Results 101 to 110 of about 78,660 (285)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Tremor in Multiple System Atrophy - a review

Tremor and Other Hyperkinetic Movements, 2013
Background: Multiple system atrophy (MSA) is a rare neurodegenerative movement disorder characterized by a rapidly progressive course. The clinical presentation can include autonomic failure, parkinsonism, and cerebellar signs.
Christine Kaindlstorfer, Roberta Granata, Gregor K. Wenning   +2 more
doaj   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

The role of SPECT-DaTSCAN in the diagnosis of isolated tremor syndromes

Aktualności Neurologiczne, 2018
Objectives: The purpose of our study was to determine the probability of developing Parkinson’s disease in various syndromes of isolated tremor. Material and methods: We performed a retrospective analysis of the diagnostic process in patients with ...
Agata Gajos, Janusz Dąbrowski, Małgorzata Bieńkiewicz, Jacek Kuśmierek, Andrzej Bogucki, Anna Płachcińska   +5 more
doaj   +1 more source

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

Thalamic deep brain stimulation for postural tremor caused by hyperthermia-induced cerebellar dysfunction: A case report

eNeurologicalSci
Background: The efficacy of deep brain stimulation (DBS) in treating tremor symptoms in cerebellar disorders remains unclear. Case presentation: A 47-year-old woman presented with neck and arm tremor and ataxic speech/gait after four days of >40 °C fever
Mitsuyoshi Tamura, Shigeki Hirano, Yoshihisa Kitayama, Marie Morooka, Tomoki Suichi, Kazumoto Shibuya, Yoshinori Higuchi, Satoshi Kuwabara   +7 more
doaj   +1 more source

Serotonergic modulation of nicotine-induced kinetic tremor in mice

Journal of Pharmacological Sciences, 2017
We previously demonstrated that nicotine elicited kinetic tremor by elevating the neural activity of the inferior olive via α7 nicotinic acetylcholine (nACh) receptors. Since α7 nACh receptors reportedly facilitate synaptic monoamine release, we explored
Naofumi Kunisawa, Higor A. Iha, Yuji Nomura, Misaki Onishi, Nami Matsubara, Saki Shimizu, Yukihiro Ohno   +6 more
doaj   +1 more source

Enhanced Sensitivity of a Modified Quaking‐Induced Conversion Diagnostic Test for the Broad Detection of Sporadic and Inherited Prion Diseases: A Retrospective Study

Annals of Neurology, EarlyView.
Objective Quaking‐induced conversion (QuIC) tests, which detect prion‐seeding activity in cerebrospinal fluid (CSF), have markedly advanced the antemortem diagnosis of prion diseases such as Creutzfeldt‐Jakob disease (CJD). These tests provide high diagnostic accuracy and enable timely differentiation from other rapidly progressive neurodegenerative ...
Jennifer Myskiw, Rebecca Fox, Dominic M.S. Kielich, Lise Lamoureux, Melanie Leonhardt, Olivia Nykvist, Jessy A. Slota, Kristen Avery, Clark Phillipson, Kathy Frost, Sharon Simon, Brian S. Appleby, Ben A. Bailey‐Elkin, Stephanie A. Booth   +13 more
wiley   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Cannabinoids and drug–drug pharmacokinetic interactions: Deciphering the risks

British Journal of Clinical Pharmacology, EarlyView.
The relationship between cannabinoids and mental health has become a major focus of scientific inquiry and public discourse. Cannabinoids are diverse chemical compounds from the Cannabis species that have been explored for their therapeutic applications in treating chronic pain, psychiatric and neurological conditions, such as depression, schizophrenia,
Paraskevi Papakyriakopoulou, Georgia Valsami, Georgios Ismailos   +2 more
wiley   +1 more source