Other search tools

About this data

The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

If you have any questions or comments, please contact us.

Results: 1 to 7 of 7

Publication Record

Connections

A Role for Dystonia-Associated Genes in Spinal GABAergic Interneuron Circuitry.
Zhang J, Weinrich JAP, Russ JB, Comer JD, Bommareddy PK, DiCasoli RJ, Wright CVE, Li Y, van Roessel PJ, Kaltschmidt JA
(2017) Cell Rep 21: 666-678
MeSH Terms: Animals, Biomarkers, Dystonia, GABAergic Neurons, Genetic Predisposition to Disease, Interneurons, Male, Mice, Mutant Strains, Molecular Chaperones, Mutation, Nerve Net, Presynaptic Terminals, Proprioception, Spinal Cord, Transcription Factors
Show Abstract · Added November 7, 2017
Spinal interneurons are critical modulators of motor circuit function. In the dorsal spinal cord, a set of interneurons called GABApre presynaptically inhibits proprioceptive sensory afferent terminals, thus negatively regulating sensory-motor signaling. Although deficits in presynaptic inhibition have been inferred in human motor diseases, including dystonia, it remains unclear whether GABApre circuit components are altered in these conditions. Here, we use developmental timing to show that GABApre neurons are a late Ptf1a-expressing subclass and localize to the intermediate spinal cord. Using a microarray screen to identify genes expressed in this intermediate population, we find the kelch-like family member Klhl14, implicated in dystonia through its direct binding with torsion-dystonia-related protein Tor1a. Furthermore, in Tor1a mutant mice in which Klhl14 and Tor1a binding is disrupted, formation of GABApre sensory afferent synapses is impaired. Our findings suggest a potential contribution of GABApre neurons to the deficits in presynaptic inhibition observed in dystonia.
Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.
2 Communities
1 Members
0 Resources
15 MeSH Terms
Synthesis and SAR of N-(4-(4-alklylpiperazin-1-yl)phenyl)benzamides as muscarinic acetylcholine receptor subtype 1 (M1) anatgonists.
Miller NR, Daniels RN, Lee D, Conn PJ, Lindsley CW
(2010) Bioorg Med Chem Lett 20: 2174-7
MeSH Terms: Amino Acid Sequence, Animals, Benzamides, CHO Cells, Cricetinae, Cricetulus, Dystonia, Humans, Mice, Molecular Sequence Data, Parkinson Disease, Receptor, Muscarinic M1, Structure-Activity Relationship
Show Abstract · Added February 19, 2015
This Letter describes the synthesis and SAR, developed through an iterative analog library approach, of a novel series of selective M(1) mAChR antagonists, based on an N-(4-(4-alkylpiperazin-1-yl)phenyl)benzamide scaffold for the potential treatment of Parkinson's disease, dystonia and other movement disorders. Compounds in this series possess M(1) antagonist IC(50)s in the 350 nM to >10 microM range with varying degrees of functional selectivity versus M(2)-M(5).
2010 Elsevier Ltd. All rights reserved.
0 Communities
1 Members
0 Resources
13 MeSH Terms
Synthesis and SAR of selective muscarinic acetylcholine receptor subtype 1 (M1 mAChR) antagonists.
Lewis LM, Sheffler D, Williams R, Bridges TM, Kennedy JP, Brogan JT, Mulder MJ, Williams L, Nalywajko NT, Niswender CM, Weaver CD, Conn PJ, Lindsley CW
(2008) Bioorg Med Chem Lett 18: 885-90
MeSH Terms: Combinatorial Chemistry Techniques, Dose-Response Relationship, Drug, Dystonia, Heterocyclic Compounds, Humans, Molecular Structure, Muscarinic Antagonists, Parkinson Disease, Receptor, Muscarinic M1, Receptors, G-Protein-Coupled, Receptors, Muscarinic, Structure-Activity Relationship
Show Abstract · Added March 5, 2014
This Letter describes the synthesis and SAR, developed through an iterative analogue library approach, of a novel series of selective M1 mAChR antagonists for the potential treatment of Parkinson's disease, dystonia and other movement disorders. Compounds in this series possess M1 antagonist IC(50)s in the 441nM-19microM range with 8- to >340-fold functional selectivity versus rM2-rM5.
1 Communities
3 Members
0 Resources
12 MeSH Terms
Rhythmic ictal nonclonic hand (RINCH) motions: a distinct contralateral sign in temporal lobe epilepsy.
Lee GR, Arain A, Lim N, Lagrange A, Singh P, Abou-Khalil B
(2006) Epilepsia 47: 2189-92
MeSH Terms: Adult, Automatism, Basal Ganglia Diseases, Child, Dystonia, Electroencephalography, Epilepsy, Temporal Lobe, Female, Functional Laterality, Hand, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Movement Disorders, Treatment Outcome, Videotape Recording
Show Abstract · Added August 14, 2014
PURPOSE - To describe a new ictal sign in temporal lobe seizures-rhythmic ictal nonclonic hand (RINCH) motions and to determine its lateralizing significance and other ictal manifestations associated with it.
METHODS - We identified 15 patients with temporal lobe epilepsy who demonstrated RINCH motions and reviewed video-EEG recordings of all their seizures. We analyzed the epilepsy characteristics and all clinical features of recorded seizures, with particular attention to RINCH motions.
RESULTS - RINCH motions were unilateral, rhythmic, nonclonic, nontremor hand motions. RINCH motions were usually followed by posturing, sometimes with some overlap. They involved the hand contralateral to the temporal lobe of seizure onset in 14 of 15 patients.
CONCLUSIONS - RINCH motions are a distinct ictal sign that could be considered a specific type of automatism. They appear to be a lateralizing contralateral sign and are associated with dystonic posturing in temporal lobe epilepsy.
0 Communities
1 Members
0 Resources
17 MeSH Terms
A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force.
Albanese A, Barnes MP, Bhatia KP, Fernandez-Alvarez E, Filippini G, Gasser T, Krauss JK, Newton A, Rektor I, Savoiardo M, Valls-Solè J
(2006) Eur J Neurol 13: 433-44
MeSH Terms: Botulinum Toxins, Brain, Counseling, Denervation, Dopamine Antagonists, Dystonia, Genetic Techniques, Humans, Magnetic Resonance Imaging, Practice Guidelines as Topic, Syndrome
Show Abstract · Added February 16, 2018
To review the literature on primary dystonia and dystonia plus and to provide evidence-based recommendations. Primary dystonia and dystonia plus are chronic and often disabling conditions with a widespread spectrum mainly in young people. Computerized MEDLINE and EMBASE literature reviews (1966-1967 February 2005) were conducted. The Cochrane Library was searched for relevant citations. Diagnosis and classification of dystonia are highly relevant for providing appropriate management and prognostic information, and genetic counselling. Expert observation is suggested. DYT-1 gene testing in conjunction with genetic counselling is recommended for patients with primary dystonia with onset before age 30 years and in those with an affected relative with early onset. Positive genetic testing for dystonia (e.g. DYT-1) is not sufficient to make diagnosis of dystonia. Individuals with myoclonus should be tested for the epsilon-sarcoglycan gene (DYT-11). A levodopa trial is warranted in every patient with early onset dystonia without an alternative diagnosis. Brain imaging is not routinely required when there is a confident diagnosis of primary dystonia in adult patients, whereas it is necessary in the paediatric population. Botulinum toxin (BoNT) type A (or type B if there is resistance to type A) can be regarded as first line treatment for primary cranial (excluding oromandibular) or cervical dystonia and can be effective in writing dystonia. Actual evidence is lacking on direct comparison of the clinical efficacy and safety of BoNT-A vs. BoNT-B. Pallidal deep brain stimulation (DBS) is considered a good option, particularly for generalized or cervical dystonia, after medication or BoNT have failed to provide adequate improvement. Selective peripheral denervation is a safe procedure that is indicated exclusively in cervical dystonia. Intrathecal baclofen can be indicated in patients where secondary dystonia is combined with spasticity. The absolute and comparative efficacy and tolerability of drugs in dystonia, including anticholinergic and antidopaminergic drugs, is poorly documented and no evidence-based recommendations can be made to guide prescribing.
0 Communities
1 Members
0 Resources
11 MeSH Terms
Adult-onset focal dystonias: presentation and treatment options.
Esper GJ, Charles PD, Davis TL, Robertson D
(1997) Tenn Med 90: 18-20
MeSH Terms: Botulinum Toxins, Type A, Dystonia, Female, Humans, Male, Middle Aged, Movement Disorders, Neuromuscular Agents
Show Abstract · Added December 10, 2013
Adult-onset focal dystonias (AFD) are common disorders that are often misdiagnosed and incorrectly treated. Their presentation is readily recognized, and botulinum toxin has become the agent of choice for treating these disorders. Most of the focal dystonias include cervical dystonia, blepharospasm, oromandibular dystonia, spasmodic dysphonia, and limb dystonia, specifically writer's cramp. Their onset is either idiopathic, familial, or post-traumatic, and the pathophysiology of the focal dystonias is not currently known. Local injections of botulinum toxin into the affected area result in chemical denervation of the muscle, resulting in a weakness of the muscles that are involved in the sustained contractions. This weakness alleviates the painful contraction of the dystonia. In this paper we present a case study of the most common type of focal dystonia, cervical dystonia. The etiology in this case was post-traumatic, and significant improvement resulted after treatment with botulinum toxin type A.
0 Communities
1 Members
0 Resources
8 MeSH Terms
Dystonia and unique muscle features. A 23-year follow-up and correction of diagnosis in two brothers.
Charles PD, Davis TL, Robertson D, Fenichel GM
(1995) Arch Neurol 52: 825-6
MeSH Terms: Adult, Dihydroxyphenylalanine, Drug Resistance, Dystonia, Follow-Up Studies, Humans, Male, Muscles
Show Abstract · Added December 10, 2013
OBJECTIVE - To provide follow-up information and a corrected diagnosis on two brothers who were primarily described in the ARCHIVES in 1971 as having had a genetic dystonia with unusual muscle biopsy features.
MEASURES - Clinical observation of response to treatment and muscle histologic findings.
RESULTS - These brothers are an unusual example of dopa-responsive dystonia that was present since birth. The muscle histopathologic features were caused by an abnormal cerebral influence on the developing motor unit and were not a primary abnormality. A repeated muscle biopsy performed 1 year after treatment continued to show the same pattern of fiber-type abnormalities.
CONCLUSIONS - Dopa-responsive dystonia can be present from birth or early infancy. The response to levodopa is excellent even after a delay in treatment of more than 20 years. Intrauterine dystonia can cause a predominance of small type 2 fibers. A trial of levodopa/carbidopa is indicated in all patients with a childhood-onset dystonia or gait disturbance.
0 Communities
1 Members
0 Resources
8 MeSH Terms