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

