Recent research in fragile X-associated tremor/ataxia syndrome.

Ataxia / genetics Female Fragile X Mental Retardation Protein / genetics Fragile X Syndrome / genetics Humans Male Tremor / genetics Trinucleotide Repeat Expansion / genetics

Journal

Current opinion in neurobiology
ISSN: 1873-6882
Titre abrégé: Curr Opin Neurobiol
Pays: England
ID NLM: 9111376

Informations de publication

Date de publication:
02 2022
Historique:
received: 07 06 2021
revised: 22 10 2021
accepted: 02 11 2021
pubmed: 11 12 2021
medline: 2 4 2022
entrez: 10 12 2021
Statut: ppublish

Résumé

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cytosine-guanine-guanine repeat expansion neurological disease that occurs in a subset of aging carriers of the premutation (55-200 cytosine-guanine-guanine repeats) in the FMR1 gene located on the X chromosome. The clinical core involves intention tremor and gait ataxia. Current research seeks to clarify the pathophysiology and neuropathology of FXTAS, as well as the development of useful biomarkers to track the progression of FXTAS. Efforts to implement quantitative measures of clinical features, such as kinematics and cognitive measures, are of special interest, in addition to characterize the differences in progression in males compared with females and the efficacy of new treatments.

Identifiants

DOI: 10.1016/j.conb.2021.11.006 PMID: 34890957
pubmed: 34890957
pii: S0959-4388(21)00133-1
doi: 10.1016/j.conb.2021.11.006
pii:
doi:

Substances chimiques

FMR1 protein, human 0
Fragile X Mental Retardation Protein 139135-51-6

Types de publication

Journal Article Research Support, N.I.H., Extramural Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

155-159

Subventions

Organisme : NICHD NIH HHS
ID : R01 HD036071
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103526
Pays : United States

Informations de copyright

Copyright © 2021. Published by Elsevier Ltd.

Déclaration de conflit d'intérêts

Conflict of interest statement Nothing declared.

Auteurs

Maria Jimena Salcedo-Arellano (MJ)

Department of Pediatrics, University of California Davis, Sacramento, CA, USA; Department of Pathology and Laboratory Medicine, University of California Davis, Sacramento, CA, USA; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA.

Randi J Hagerman (RJ)

Department of Pediatrics, University of California Davis, Sacramento, CA, USA; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA. Electronic address: rjhagerman@ucdavis.edu.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › Recent research in fragile X-associated...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéine du syndrome X fragile › Recent research in fragile X-associated...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Retard mental lié à l'X › Syndrome du chromosome X fragile › Recent research in fragile X-associated...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Recent research in fragile X-associated...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Tremblement › Recent research in fragile X-associated...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Expansion de trinucléotide répété › Recent research in fragile X-associated...