FXTAS
MCID: FRG008
MIFTS: 36

Fragile X-Associated Tremor/ataxia Syndrome (FXTAS) malady

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Fragile X-Associated Tremor/ataxia Syndrome

Aliases & Descriptions for Fragile X-Associated Tremor/ataxia Syndrome:

Name: Fragile X-Associated Tremor/ataxia Syndrome 12 24 25 14
Fragile X Tremor/ataxia Syndrome 24 25 69
Fxtas 24 25
Fragile X-Associated Tremor Ataxia Syndrome 24
Fxtas Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050879

Summaries for Fragile X-Associated Tremor/ataxia Syndrome

Genetics Home Reference : 25 Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected individuals have areas of damage in the part of the brain that controls movement (the cerebellum) and in a type of brain tissue known as white matter, which can be seen with magnetic resonance imaging (MRI). This damage leads to the movement problems and other impairments associated with FXTAS.

MalaCards based summary : Fragile X-Associated Tremor/ataxia Syndrome, also known as fragile x tremor/ataxia syndrome, is related to fragile x tremor/ataxia syndrome and ataxia, and has symptoms including myalgia, muscle weakness and bradykinesia. An important gene associated with Fragile X-Associated Tremor/ataxia Syndrome is FMR1 (Fragile X Mental Retardation 1), and among its related pathways/superpathways is Neuroscience. The drugs Anesthetics and Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and pituitary.

Disease Ontology : 12 A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has material basis in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.

Related Diseases for Fragile X-Associated Tremor/ataxia Syndrome

Diseases related to Fragile X-Associated Tremor/ataxia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
id Related Disease Score Top Affiliating Genes
1 fragile x tremor/ataxia syndrome 11.3
2 ataxia 11.1
3 tremor 11.1
4 fragile x syndrome 10.5
5 dementia 10.4
6 neuropathy 10.3
7 multiple system atrophy 10.1
8 choroiditis 10.1
9 mood disorder 10.1
10 axonal neuropathy 10.1
11 myoclonus 10.1
12 personality disorder 10.1 FMR1 GRM5
13 y-linked disease 10.0 FMR1 GRM5
14 immunodeficiency, isolated 9.9 FMR1 GRM5
15 hypomyelinating leukoencephalopathy 9.1 CTC1 DIP2B FMR1 GRM5 RBMX SLC30A6
16 synucleinopathy 8.9 CTC1 DIP2B FMR1 GRM5 RBMX SLC1A3

Graphical network of the top 20 diseases related to Fragile X-Associated Tremor/ataxia Syndrome:



Diseases related to Fragile X-Associated Tremor/ataxia Syndrome

Symptoms & Phenotypes for Fragile X-Associated Tremor/ataxia Syndrome

Human phenotypes related to Fragile X-Associated Tremor/ataxia Syndrome:

32 (show all 29)
id Description HPO Frequency HPO Source Accession
1 myalgia 32 HP:0003326
2 muscle weakness 32 HP:0001324
3 bradykinesia 32 HP:0002067
4 gait ataxia 32 HP:0002066
5 dysesthesia 32 HP:0012534
6 depression 32 HP:0000716
7 hypothyroidism 32 HP:0000821
8 hypertension 32 HP:0000822
9 dysarthria 32 HP:0001260
10 dysphagia 32 HP:0002015
11 dysautonomia 32 HP:0002459
12 bowel incontinence 32 HP:0002607
13 hypotension 32 HP:0002615
14 anxiety 32 HP:0000739
15 dysmetria 32 HP:0001310
16 intention tremor 32 HP:0002080
17 urinary bladder sphincter dysfunction 32 HP:0002839
18 cerebral cortical atrophy 32 HP:0002120
19 memory impairment 32 HP:0002354
20 rigidity 32 HP:0002063
21 dementia 32 HP:0000726
22 obsessive-compulsive behavior 32 HP:0000722
23 hyporeflexia 32 HP:0001265
24 abnormality of brainstem morphology 32 HP:0002363
25 impotence 32 HP:0000802
26 parkinsonism 32 HP:0001300
27 pollakisuria 32 HP:0100515
28 inertia 32 HP:0030216
29 diffuse cerebellar atrophy 32 HP:0100275

UMLS symptoms related to Fragile X-Associated Tremor/ataxia Syndrome:


ataxia, tremor, myalgia, bradykinesia, action tremor, static tremor, dysdiadochokinesis, gait ataxia, lower extremity numbness, paresthesia lower limb

Drugs & Therapeutics for Fragile X-Associated Tremor/ataxia Syndrome

Drugs for Fragile X-Associated Tremor/ataxia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 2
2 Central Nervous System Depressants Phase 2
3
Pregnanolone Phase 2 128-20-1 31402
4
Dopamine Approved 51-61-6, 62-31-7 681
5
Memantine Approved, Investigational 19982-08-2 4054
6 Antiparkinson Agents
7 Dopamine Agents
8 Excitatory Amino Acid Antagonists
9 Excitatory Amino Acids
10 Neurotransmitter Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Citocoline for Treatment of FXTAS Unknown status NCT02197104 Phase 2
2 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Enrolling by invitation NCT02603926 Phase 2
3 Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome Completed NCT00584948
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
6 Brain Network Activation and Gait and Posture in FXTAS Not yet recruiting NCT02936531

Search NIH Clinical Center for Fragile X-Associated Tremor/ataxia Syndrome

Genetic Tests for Fragile X-Associated Tremor/ataxia Syndrome

Genetic tests related to Fragile X-Associated Tremor/ataxia Syndrome:

id Genetic test Affiliating Genes
1 Fragile X-Associated Tremor/ataxia Syndrome 24 FMR1

Anatomical Context for Fragile X-Associated Tremor/ataxia Syndrome

MalaCards organs/tissues related to Fragile X-Associated Tremor/ataxia Syndrome:

39
Brain, Cerebellum, Pituitary, Testes, Adrenal Gland, Hypothalamus

Publications for Fragile X-Associated Tremor/ataxia Syndrome

Articles related to Fragile X-Associated Tremor/ataxia Syndrome:

(show top 50) (show all 131)
id Title Authors Year
1
Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development. ( 27277287 )
2016
2
Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene. ( 27355274 )
2016
3
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome. ( 26609701 )
2016
4
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report. ( 27375149 )
2016
5
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. ( 27340021 )
2016
6
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice. ( 27255703 )
2016
7
Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome. ( 27647792 )
2016
8
What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome? ( 27355912 )
2016
9
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology. ( 27355575 )
2016
10
Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. ( 26898832 )
2016
11
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. ( 27414076 )
2016
12
Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome. ( 27089882 )
2016
13
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome. ( 27602566 )
2016
14
MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. ( 27440151 )
2016
15
Long-term outcome of deep brain stimulation in fragile X-associated tremor/ataxia syndrome. ( 25577024 )
2015
16
Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). ( 25763861 )
2015
17
Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s. ( 26368352 )
2015
18
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. ( 25920745 )
2015
19
Fragile X-associated tremor/ataxia syndrome. ( 25622649 )
2015
20
Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome. ( 25498860 )
2015
21
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. ( 25954027 )
2015
22
Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS). ( 25488474 )
2015
23
Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. ( 26298472 )
2015
24
Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia. ( 26439425 )
2015
25
ERP abnormalities elicited by word repetition in fragile X-associated tremor/ataxia syndrome (FXTAS) and amnestic MCI. ( 25111034 )
2014
26
Axonal neuropathy in female carriers of the fragile X premutation with fragile X-associated tremor ataxia syndrome. ( 25388402 )
2014
27
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. ( 25136376 )
2014
28
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study. ( 24871547 )
2014
29
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. ( 24108107 )
2014
30
Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. ( 24491663 )
2014
31
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome. ( 25471011 )
2014
32
Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome. ( 25606360 )
2014
33
Posterior Subthalamic Area Deep Brain Stimulation for Fragile X-Associated Tremor/Ataxia Syndrome. ( 24528808 )
2014
34
Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome. ( 24005575 )
2014
35
Pathological crying associated with fragile X-associated tremor/ataxia syndrome. ( 26037874 )
2014
36
Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome. ( 24299169 )
2014
37
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. ( 25161746 )
2014
38
New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype. ( 25368631 )
2014
39
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. ( 22568721 )
2013
40
Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. ( 22918986 )
2013
41
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. ( 23478018 )
2013
42
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. ( 23867198 )
2013
43
Which Approach is Better: Bilateral Versus Unilateral Thalamic Deep Brain Stimulation in Patients with Fragile X-Associated Tremor Ataxia Syndrome. ( 24122741 )
2013
44
Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial. ( 24345444 )
2013
45
Pure psychiatric presentation of Fragile X-associated tremor/ataxia syndrome. ( 23889896 )
2013
46
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. ( 23793382 )
2013
47
Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome. ( 24332449 )
2013
48
Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome. ( 24176424 )
2013
49
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. ( 23298734 )
2013
50
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. ( 23009394 )
2013

Variations for Fragile X-Associated Tremor/ataxia Syndrome

ClinVar genetic disease variations for Fragile X-Associated Tremor/ataxia Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic

Expression for Fragile X-Associated Tremor/ataxia Syndrome

Search GEO for disease gene expression data for Fragile X-Associated Tremor/ataxia Syndrome.

Pathways for Fragile X-Associated Tremor/ataxia Syndrome

Pathways related to Fragile X-Associated Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.31 FMR1 GRM5 SLC1A3

GO Terms for Fragile X-Associated Tremor/ataxia Syndrome

Cellular components related to Fragile X-Associated Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 presynaptic membrane GO:0042734 8.96 FMR1 GRM5
2 neuron projection GO:0043005 8.8 FMR1 GRM5 SLC1A3

Biological processes related to Fragile X-Associated Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of alternative mRNA splicing, via spliceosome GO:0000381 8.62 FMR1 RBMX

Molecular functions related to Fragile X-Associated Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mRNA binding GO:0003729 8.62 FMR1 RBMX

Sources for Fragile X-Associated Tremor/ataxia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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