MCID: FRG008
MIFTS: 40

Fragile X-Associated Tremor/ataxia Syndrome

Categories: Genetic diseases, Neuronal diseases

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

MalaCards integrated aliases 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:



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 dysphagia, dysarthria and hyporeflexia. 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 19)
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 chromosome xq27.3-q28 duplication syndrome 10.2 FMR1 LOC108684022
8 neuronitis 10.2
9 myoclonus 10.1
10 multiple system atrophy 10.1
11 choroiditis 10.1
12 mood disorder 10.1
13 axonal neuropathy 10.1
14 personality disorder 10.0 FMR1 GRM5
15 autosomal recessive disease 9.9 FMR1 GRM5
16 atypical autism 9.8 FMR1 LOC108684022
17 premature ovarian failure 1 9.6 FMR1 GRM5 LOC108684022
18 spinocerebellar ataxia type 19/22 8.1 CTC1 DIP2B FMR1 GRM5 SLC30A6
19 townes-brocks syndrome 7.2 CTC1 DIP2B FMR1 GRM5 LOC108684022 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 dysphagia 32 occasional (7.5%) HP:0002015
2 dysarthria 32 hallmark (90%) HP:0001260
3 hyporeflexia 32 frequent (33%) HP:0001265
4 muscle weakness 32 frequent (33%) HP:0001324
5 parkinsonism 32 occasional (7.5%) HP:0001300
6 bradykinesia 32 occasional (7.5%) HP:0002067
7 rigidity 32 frequent (33%) HP:0002063
8 depression 32 frequent (33%) HP:0000716
9 cerebral cortical atrophy 32 hallmark (90%) HP:0002120
10 gait ataxia 32 hallmark (90%) HP:0002066
11 hypertension 32 occasional (7.5%) HP:0000822
12 myalgia 32 occasional (7.5%) HP:0003326
13 memory impairment 32 hallmark (90%) HP:0002354
14 dementia 32 hallmark (90%) HP:0000726
15 intention tremor 32 hallmark (90%) HP:0002080
16 dysmetria 32 hallmark (90%) HP:0001310
17 hypothyroidism 32 occasional (7.5%) HP:0000821
18 anxiety 32 frequent (33%) HP:0000739
19 impotence 32 frequent (33%) HP:0000802
20 hypotension 32 occasional (7.5%) HP:0002615
21 obsessive-compulsive behavior 32 frequent (33%) HP:0000722
22 diffuse cerebellar atrophy 32 frequent (33%) HP:0100275
23 dysautonomia 32 frequent (33%) HP:0002459
24 bowel incontinence 32 occasional (7.5%) HP:0002607
25 urinary bladder sphincter dysfunction 32 frequent (33%) HP:0002839
26 abnormality of brainstem morphology 32 occasional (7.5%) HP:0002363
27 pollakisuria 32 frequent (33%) HP:0100515
28 dysesthesia 32 frequent (33%) HP:0012534
29 inertia 32 hallmark (90%) HP:0030216

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
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 Drugs
1 Citocoline for Treatment of FXTAS Completed NCT02197104 Phase 2 citocoline
2 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Enrolling by invitation NCT02603926 Phase 2 Allopregnanolone
3 Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome Completed NCT00584948 Memantine;Placebo
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 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, Hypothalamus, Adrenal Gland

Publications for Fragile X-Associated Tremor/ataxia Syndrome

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

(show top 50) (show all 141)
id Title Authors Year
1
Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics. ( 28529475 )
2017
2
Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome? ( 28884425 )
2017
3
Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome. ( 28444183 )
2017
4
FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome. ( 28469864 )
2017
5
Fragile X-associated tremor/ataxia syndrome: cognitive presentations. ( 28398884 )
2017
6
Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome. ( 28369393 )
2017
7
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma. ( 28899011 )
2017
8
Reply: Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma. ( 28899012 )
2017
9
Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome. ( 28233916 )
2017
10
Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome. ( 28707277 )
2017
11
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome. ( 26609701 )
2016
12
Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. ( 26898832 )
2016
13
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology. ( 27355575 )
2016
14
Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development. ( 27277287 )
2016
15
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
16
Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome. ( 27647792 )
2016
17
What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome? ( 27355912 )
2016
18
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. ( 27340021 )
2016
19
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice. ( 27255703 )
2016
20
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. ( 27414076 )
2016
21
Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene. ( 27355274 )
2016
22
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome. ( 27602566 )
2016
23
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report. ( 27375149 )
2016
24
MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. ( 27440151 )
2016
25
Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s. ( 26368352 )
2015
26
Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS). ( 25488474 )
2015
27
Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). ( 25763861 )
2015
28
Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia. ( 26439425 )
2015
29
Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. ( 26298472 )
2015
30
Long-term outcome of deep brain stimulation in fragile X-associated tremor/ataxia syndrome. ( 25577024 )
2015
31
Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome. ( 25498860 )
2015
32
Fragile X-associated tremor/ataxia syndrome. ( 25622649 )
2015
33
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. ( 25954027 )
2015
34
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. ( 25920745 )
2015
35
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study. ( 24871547 )
2014
36
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. ( 24108107 )
2014
37
Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome. ( 24299169 )
2014
38
New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype. ( 25368631 )
2014
39
Axonal neuropathy in female carriers of the fragile X premutation with fragile X-associated tremor ataxia syndrome. ( 25388402 )
2014
40
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome. ( 25471011 )
2014
41
ERP abnormalities elicited by word repetition in fragile X-associated tremor/ataxia syndrome (FXTAS) and amnestic MCI. ( 25111034 )
2014
42
Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome. ( 25606360 )
2014
43
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
44
Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. ( 24491663 )
2014
45
Posterior Subthalamic Area Deep Brain Stimulation for Fragile X-Associated Tremor/Ataxia Syndrome. ( 24528808 )
2014
46
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. ( 25136376 )
2014
47
Pathological crying associated with fragile X-associated tremor/ataxia syndrome. ( 26037874 )
2014
48
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. ( 25161746 )
2014
49
Which Approach is Better: Bilateral Versus Unilateral Thalamic Deep Brain Stimulation in Patients with Fragile X-Associated Tremor Ataxia Syndrome. ( 24122741 )
2013
50
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. ( 22568721 )
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 translation GO:0006417 8.32 FMR1

Sources for Fragile X-Associated Tremor/ataxia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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