MCID: FRG008
MIFTS: 40

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 25 15
Fragile X Tremor/ataxia Syndrome 25 73
Fxtas Syndrome 12
Fxtas 25

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 fragile x syndrome, and has symptoms including ataxia, tremor and myalgia. 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, and related phenotypes are depressivity and obsessive-compulsive behavior

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 25)
# Related Disease Score Top Affiliating Genes
1 fragile x tremor/ataxia syndrome 32.4 FMR1 LOC108684022
2 fragile x syndrome 30.3 FMR1 GRM5 LOC108684022
3 tremor 11.2
4 dementia 10.5
5 aging 10.4
6 neuropathy 10.4
7 anxiety 10.3
8 movement disease 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 cerebritis 10.1
17 axonal neuropathy 10.1
18 monoclonal gammopathy of uncertain significance 10.1
19 dementia - subcortical 10.1
20 myoclonus 10.1
21 x-linked disease 9.9 FMR1 GRM5
22 pervasive developmental disorder 9.8 FMR1 GRM5
23 disease of mental health 9.6 FMR1 GRM5
24 attention deficit-hyperactivity disorder 9.4 FMR1 GRM5 SLC1A3
25 x-linked hereditary ataxia 8.3 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:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 frequent (33%) HP:0000716
2 obsessive-compulsive behavior 32 frequent (33%) HP:0000722
3 dementia 32 hallmark (90%) HP:0000726
4 anxiety 32 frequent (33%) HP:0000739
5 impotence 32 frequent (33%) HP:0000802
6 hypothyroidism 32 occasional (7.5%) HP:0000821
7 hypertension 32 occasional (7.5%) HP:0000822
8 dysarthria 32 hallmark (90%) HP:0001260
9 hyporeflexia 32 frequent (33%) HP:0001265
10 parkinsonism 32 occasional (7.5%) HP:0001300
11 dysmetria 32 hallmark (90%) HP:0001310
12 muscle weakness 32 frequent (33%) HP:0001324
13 dysphagia 32 occasional (7.5%) HP:0002015
14 rigidity 32 frequent (33%) HP:0002063
15 gait ataxia 32 hallmark (90%) HP:0002066
16 bradykinesia 32 occasional (7.5%) HP:0002067
17 intention tremor 32 hallmark (90%) HP:0002080
18 cerebral cortical atrophy 32 hallmark (90%) HP:0002120
19 memory impairment 32 hallmark (90%) HP:0002354
20 abnormality of brainstem morphology 32 occasional (7.5%) HP:0002363
21 dysautonomia 32 frequent (33%) HP:0002459
22 bowel incontinence 32 occasional (7.5%) HP:0002607
23 hypotension 32 occasional (7.5%) HP:0002615
24 urinary bladder sphincter dysfunction 32 frequent (33%) HP:0002839
25 myalgia 32 occasional (7.5%) HP:0003326
26 dysesthesia 32 frequent (33%) HP:0012534
27 inertia 32 hallmark (90%) HP:0030216
28 diffuse cerebellar atrophy 32 frequent (33%) HP:0100275
29 pollakisuria 32 frequent (33%) HP:0100515

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


ataxia, tremor, myalgia, bradykinesia, action tremor, static tremor, resting 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)
# 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 Not Applicable 51-61-6, 62-31-7 681
5
Memantine Approved, Investigational Not Applicable 19982-08-2 4054
6 Antiparkinson Agents Not Applicable
7 Dopamine Agents Not Applicable
8 Excitatory Amino Acid Antagonists Not Applicable
9 Excitatory Amino Acids Not Applicable
10 Neurotransmitter Agents Not Applicable

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 Not Applicable 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:

41
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 148)
# Title Authors Year
1
Fragile X syndrome and fragile X-associated tremor ataxia syndrome. ( 29325626 )
2018
2
Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future. ( 29951081 )
2018
3
Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of Fragile X-Associated Tremor Ataxia Syndrome? ( 29389022 )
2018
4
Fragile X-associated tremor/ataxia syndrome. ( 29094559 )
2017
5
Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome. ( 28233916 )
2017
6
Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome. ( 28707277 )
2017
7
Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome. ( 28444183 )
2017
8
Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome? ( 28884425 )
2017
9
Fragile X-associated tremor/ataxia syndrome: cognitive presentations. ( 28398884 )
2017
10
Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics. ( 28529475 )
2017
11
Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome. ( 28369393 )
2017
12
Reply: Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma. ( 28899012 )
2017
13
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma. ( 28899011 )
2017
14
FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome. ( 28469864 )
2017
15
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. ( 27340021 )
2016
16
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. ( 27414076 )
2016
17
Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene. ( 27355274 )
2016
18
What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome? ( 27355912 )
2016
19
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome. ( 27602566 )
2016
20
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report. ( 27375149 )
2016
21
Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. ( 26898832 )
2016
22
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
23
Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development. ( 27277287 )
2016
24
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome. ( 26609701 )
2016
25
MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. ( 27440151 )
2016
26
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice. ( 27255703 )
2016
27
Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome. ( 27647792 )
2016
28
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology. ( 27355575 )
2016
29
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. ( 25920745 )
2015
30
Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS). ( 25488474 )
2015
31
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. ( 25954027 )
2015
32
Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). ( 25763861 )
2015
33
Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome. ( 25498860 )
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
Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia. ( 26439425 )
2015
37
Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. ( 26298472 )
2015
38
Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s. ( 26368352 )
2015
39
Axonal neuropathy in female carriers of the fragile X premutation with fragile X-associated tremor ataxia syndrome. ( 25388402 )
2014
40
Pathological crying associated with fragile X-associated tremor/ataxia syndrome. ( 26037874 )
2014
41
Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome. ( 24299169 )
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
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. ( 25136376 )
2014
46
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study. ( 24871547 )
2014
47
Posterior Subthalamic Area Deep Brain Stimulation for Fragile X-Associated Tremor/Ataxia Syndrome. ( 24528808 )
2014
48
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome. ( 25471011 )
2014
49
ERP abnormalities elicited by word repetition in fragile X-associated tremor/ataxia syndrome (FXTAS) and amnestic MCI. ( 25111034 )
2014
50
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. ( 24108107 )
2014

Variations for Fragile X-Associated Tremor/ataxia Syndrome

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

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10 dbSNP
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17 ExPASy
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74 UMLS via Orphanet
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