Results 31 to 40 of about 59,501 (281)
Dystonia, 2023 Task-specific tremor (TST) is a specific type of tremor that occurs when performing or attempting to perform a specific task, such as writing or playing a musical instrument. The clinical entity of TST remains heterogeneous. Some TSTs can only be induced
Yih-Chih Jacinta Kuo +1 more
doaj +1 more source
Clinical Case Reports, 2018 Key Clinical Message Tardive dystonia is a risk factor in medical antipsychotic treatment. It often begins with repetitive involuntary jaw and tongue movements resulting in impaired chewing and detrimental effect on the dentition.
Merete Bakke +4 more
doaj +1 more source
Dystonia, 2023 Advances in sequencing technologies have identified novel genes associated with inherited forms of dystonia, providing valuable insights into its genetic basis and revealing diverse genetic pathways and mechanisms involved in its pathophysiology.
Dhananjay Yellajoshyula
doaj +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing [PDF]
Ann Clin Transl NeurolABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Gonzalez Saez‐Diez E +5 more
europepmc +2 more sources
THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA [PDF]
, 2011 Objectives. To identify novel genetic loci associated with primary adult-onset dystonia (AOD) and assess candidate genes from the literature. Secondary aimes.
Esposito, Marcello
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Focal Dystonia: The Root Causes Underpinning the Yips [PDF]
, 2021 Cases of the yips have popped up from time to time in all different sports from MLB pitchers suddenly not being able to find the strike zone to professional golfers missing very short putts. A theory proposed by researchers to explain the yips is a motor
Rhoads, Brigham +5 more
core +1 more source
A Headset Method for Measuring the Visual Temporal Discrimination Threshold in Cervical Dystonia [PDF]
, 2014 The visual temporal discrimination threshold (TDT) is the shortest time interval at which one can determine two stimuli to be asynchronous and meets criteria for a valid endophenotype in adult-onset idiopathic focal dystonia, a poorly penetrant disorder.
O\u27Riordan, Sean +16 more
core +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Case Series: Dystonia with multiple sclerosis and neuromyelitis optica
Dystonia, 2023 Dystonia is an uncommon complication of relapsing-remitting multiple sclerosis (MS) and related disorders. The types of dystonia described associated with MS are heterogenous, and the relationship between dystonia and MS remains unclear.
Helen Hwang +2 more
doaj +1 more source
Neuroimaging in idiopathic adult-onset focal dystonia
, 2021 We aimed to study the attitude of Italian neurologists in the use of conventional MRI in patients with idiopathic adult-onset focal dystonia. Patients were included in the Italian Dystonia Registry by experts working in different Italian centers. MRI was
Paolo Girlanda +51 more
core +1 more source