Results 21 to 30 of about 123,648 (399)

A mini-review of the pathophysiology of task-specific tremor: insights from electrophysiological and neuroimaging findings

open access: yesDystonia, 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

Transcriptional regulatory network for neuron-glia interactions and its implication for DYT6 dystonia

open access: yesDystonia, 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

Does the somatosensory temporal discrimination threshold change over time in focal dystonia? [PDF]

open access: yes, 2017
BACKGROUND: The somatosensory temporal discrimination threshold (STDT) is defined as the shortest interval at which an individual recognizes two stimuli as asynchronous. Some evidence suggests that STDT depends on cortical inhibitory interneurons in the
Belvisi, Daniele   +6 more
core   +6 more sources

Dystonia: sparse synapses for D2 receptors in striatum of a DYT1 knock-out mouse model [PDF]

open access: yes, 2020
Dystonia pathophysiology has been partly linked to downregulation and dysfunction of dopamine D2 receptors in striatum. We aimed to investigate the possible morpho-structural correlates of D2 receptor downregulation in the striatum of a DYT1 Tor1a mouse ...
Biagioni, S.   +8 more
core   +1 more source

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

open access: yesAnnals of Neurology, 2020
The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses.
D. Steel   +52 more
semanticscholar   +1 more source

Tardive Dystonia [PDF]

open access: yesSchizophrenia Bulletin, 1999
This paper provides an overview of the phenomenology, epidemiology, and treatment of tardive dystonia. Tardive dystonia is one of the extrapyramidal syndromes that starts after long-term use of dopamine receptor antagonists. The diagnosis is based on the presence of chronic dystonia, defined as a syndrome of sustained muscle contractions, frequently ...
van Harten, P.N., Kahn, R.S.
openaire   +3 more sources

Dopa-responsive dystonia

open access: yesDefinitions, 2020
A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian symptoms that may progress from lower to upper extremities witha diurnal pattern, and involuntary muscle ...
Masaya Segawa   +2 more
semanticscholar   +1 more source

Dopamine signaling negatively regulates striatal phosphorylation of Cdk5 at tyrosine 15 in mice.

open access: yesFrontiers in Cellular Neuroscience, 2013
Striatal functions depend on the activity balance between the dopamine and glutamate neurotransmissions. Glutamate inputs activate cyclin-dependent kinase 5 (Cdk5), which inhibits postsynaptic dopamine signaling by phosphorylating DARPP-32 (dopamine- and
Yukio eYamamura   +9 more
doaj   +1 more source

Service-based survey of dystonia in Munich [PDF]

open access: yes, 2002
We performed a service-based epidemiological study of dystonia in Munich, Germany. Due to favourable referral and treatment patterns in the Munich area, we could provide confident data from dystonia patients seeking botulinum toxin treatment.
Ben-Shlomo, Y.   +7 more
core   +1 more source

Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells

open access: yesDisease Models & Mechanisms, 2016
X-linked dystonia-parkinsonism (XDP) is a hereditary neurodegenerative disorder involving a progressive loss of striatal medium spiny neurons. The mechanisms underlying neurodegeneration are not known, in part because there have been few cellular models ...
Naoto Ito   +12 more
doaj   +1 more source

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