MCID: FRG008
MIFTS: 41

Fragile X-Associated Tremor/ataxia Syndrome

Categories: 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 14
Fragile X Tremor/ataxia Syndrome 24 69
Fxtas Syndrome 12
Fxtas 24

Classifications:



Summaries for Fragile X-Associated Tremor/ataxia Syndrome

Genetics Home Reference : 24 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 fragile x syndrome, and has symptoms including depressivity, obsessive-compulsive behavior and dementia. 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 23)
# Related Disease Score Top Affiliating Genes
1 fragile x tremor/ataxia syndrome 32.3 FMR1 LOC108684022
2 fragile x syndrome 30.5 FMR1 GRM5 LOC108684022
3 ataxia and polyneuropathy, adult-onset 11.2
4 tremor 11.2
5 dementia 10.5
6 aging 10.4
7 neuropathy 10.4
8 anxiety 10.3
9 neuronitis 10.3
10 fmr1-related primary ovarian insufficiency 10.3
11 alzheimer disease 10.1
12 erythermalgia, primary 10.1
13 multiple system atrophy 1 10.1
14 choroiditis 10.1
15 mood disorder 10.1
16 axonal neuropathy 10.1
17 myoclonus 10.1
18 ring chromosome y syndrome 10.1
19 x-linked disease 9.9 FMR1 GRM5
20 pervasive developmental disorder 9.9 FMR1 LOC108684022
21 disease of mental health 9.7 FMR1 GRM5
22 attention deficit-hyperactivity disorder 9.6 FMR1 GRM5 SLC1A3
23 x-linked hereditary ataxia 8.9 CTC1 DIP2B DMAP1 FMR1

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:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 depressivity 31 frequent (33%) HP:0000716
2 obsessive-compulsive behavior 31 frequent (33%) HP:0000722
3 dementia 31 hallmark (90%) HP:0000726
4 anxiety 31 frequent (33%) HP:0000739
5 impotence 31 frequent (33%) HP:0000802
6 hypothyroidism 31 occasional (7.5%) HP:0000821
7 hypertension 31 occasional (7.5%) HP:0000822
8 dysarthria 31 hallmark (90%) HP:0001260
9 hyporeflexia 31 frequent (33%) HP:0001265
10 parkinsonism 31 occasional (7.5%) HP:0001300
11 dysmetria 31 hallmark (90%) HP:0001310
12 muscle weakness 31 frequent (33%) HP:0001324
13 dysphagia 31 occasional (7.5%) HP:0002015
14 rigidity 31 frequent (33%) HP:0002063
15 gait ataxia 31 hallmark (90%) HP:0002066
16 bradykinesia 31 occasional (7.5%) HP:0002067
17 intention tremor 31 hallmark (90%) HP:0002080
18 cerebral cortical atrophy 31 hallmark (90%) HP:0002120
19 memory impairment 31 hallmark (90%) HP:0002354
20 abnormality of brainstem morphology 31 occasional (7.5%) HP:0002363
21 dysautonomia 31 frequent (33%) HP:0002459
22 bowel incontinence 31 occasional (7.5%) HP:0002607
23 hypotension 31 occasional (7.5%) HP:0002615
24 urinary bladder sphincter dysfunction 31 frequent (33%) HP:0002839
25 myalgia 31 occasional (7.5%) HP:0003326
26 dysesthesia 31 frequent (33%) HP:0012534
27 inertia 31 hallmark (90%) HP:0030216
28 diffuse cerebellar atrophy 31 frequent (33%) HP:0100275
29 pollakisuria 31 frequent (33%) HP:0100515

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


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

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)
# 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:


# 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 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Genetic Tests for Fragile X-Associated Tremor/ataxia Syndrome

Anatomical Context for Fragile X-Associated Tremor/ataxia Syndrome

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

38
Brain, Cerebellum, Pituitary, Hypothalamus, Adrenal Gland, Testes

Publications for Fragile X-Associated Tremor/ataxia Syndrome

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

(show top 50) (show all 144)
# Title Authors Year
1
Fragile X syndrome and fragile X-associated tremor ataxia syndrome. ( 29325626 )
2018
2
Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of Fragile X-Associated Tremor Ataxia Syndrome? ( 29389022 )
2018
3
Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome. ( 28444183 )
2017
4
Fragile X-associated tremor/ataxia syndrome. ( 29094559 )
2017
5
Reply: Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma. ( 28899012 )
2017
6
Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics. ( 28529475 )
2017
7
Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome. ( 28369393 )
2017
8
Fragile X-associated tremor/ataxia syndrome: cognitive presentations. ( 28398884 )
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
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma. ( 28899011 )
2017
12
Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome? ( 28884425 )
2017
13
FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome. ( 28469864 )
2017
14
Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. ( 26898832 )
2016
15
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. ( 27414076 )
2016
16
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice. ( 27255703 )
2016
17
What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome? ( 27355912 )
2016
18
Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome. ( 27647792 )
2016
19
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology. ( 27355575 )
2016
20
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome. ( 26609701 )
2016
21
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
22
MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. ( 27440151 )
2016
23
Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene. ( 27355274 )
2016
24
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome. ( 27602566 )
2016
25
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. ( 27340021 )
2016
26
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report. ( 27375149 )
2016
27
Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development. ( 27277287 )
2016
28
Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s. ( 26368352 )
2015
29
Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). ( 25763861 )
2015
30
Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome. ( 25498860 )
2015
31
Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS). ( 25488474 )
2015
32
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. ( 25954027 )
2015
33
Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia. ( 26439425 )
2015
34
Fragile X-associated tremor/ataxia syndrome. ( 25622649 )
2015
35
Long-term outcome of deep brain stimulation in fragile X-associated tremor/ataxia syndrome. ( 25577024 )
2015
36
Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. ( 26298472 )
2015
37
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. ( 25920745 )
2015
38
Pathological crying associated with fragile X-associated tremor/ataxia syndrome. ( 26037874 )
2014
39
Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome. ( 24299169 )
2014
40
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. ( 25136376 )
2014
41
Posterior Subthalamic Area Deep Brain Stimulation for Fragile X-Associated Tremor/Ataxia Syndrome. ( 24528808 )
2014
42
Axonal neuropathy in female carriers of the fragile X premutation with fragile X-associated tremor ataxia syndrome. ( 25388402 )
2014
43
ERP abnormalities elicited by word repetition in fragile X-associated tremor/ataxia syndrome (FXTAS) and amnestic MCI. ( 25111034 )
2014
44
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. ( 25161746 )
2014
45
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study. ( 24871547 )
2014
46
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome. ( 25471011 )
2014
47
Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. ( 24491663 )
2014
48
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
49
Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome. ( 25606360 )
2014
50
New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype. ( 25368631 )
2014

Variations for Fragile X-Associated Tremor/ataxia Syndrome

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

6
# 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:

# Super pathways Score Top Affiliating Genes
1 11.33 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 regulation of translation GO:0006417 8.62 FMR1 GRM5

Sources for Fragile X-Associated Tremor/ataxia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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