MCID: FRG008
MIFTS: 33

Fragile X-Associated Tremor/ataxia Syndrome malady

Categories: Genetic diseases (common), Neuronal diseases

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

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

Name: Fragile X-Associated Tremor/ataxia Syndrome 11 23 24 13
Fragile X Tremor/ataxia Syndrome 23 24 66
Fxtas 23 24
 
Fragile X-Associated Tremor Ataxia Syndrome 23
Fxtas Syndrome 11

Classifications:



External Ids:

Disease Ontology11 DOID:0050879

Summaries for Fragile X-Associated Tremor/ataxia Syndrome

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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 ataxia, 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). Affiliated tissues include brain, cerebellum and pituitary.

Disease Ontology:11 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

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



Diseases related to fragile x-associated tremor/ataxia syndrome

Symptoms for Fragile X-Associated Tremor/ataxia Syndrome

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


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

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1PregnanolonePhase 220128-20-1
2
Memantine17619982-08-24054
Synonyms:
1,3-Dimethyl-5-adamantanamine
1-Amino-3,5-dimethyladamantane
19982-08-2
3,5-Dimethyl-1-adamantanamine
3,5-Dimethyl-1-adamantylamine
3,5-Dimethyl-1-aminoadamantane
3,5-Dimethyladamantan-1-ylamine
3,5-Dimethyltricyclo(3.3.1.1(3,7))decan-1-amine
3,5-dimethyladamantan-1-amine
3,5-dimethyltricyclo[3.3.1.1~3,7~]decan-1-amine
41100-52-1 (Hydrochloride)
51052-62-1
AB00053600
AC1L1HB7
AKOS000113995
BBL000737
BPBio1_001117
BPBio1_001270
BSPBio_001015
Biomol-NT_000209
C13736
CBMicro_020348
CHEBI:152523
CHEMBL807
CID4054
D08174
DB01043
DMAA
DivK1c_000068
EU-0053634
Ebixa
Exiba
Exiba (TN)
HMS500D10
HSDB 7327
IDI1_000068
KBio1_000068
KBio2_001087
KBio2_003655
 
KBio2_006223
KBio3_001926
KBioGR_001543
KBioSS_001087
LS-157051
Lopac0_000861
Memantin
Memantina
Memantina [INN-Spanish]
Memantine
Memantine (INN)
Memantine HCL
Memantine Hydrochloride
Memantine [INN:BAN]
Memantine [INN]
Memantinum
Memantinum [INN-Latin]
MolPort-002-041-858
NCGC00015705-05
NCGC00024782-02
NCGC00024782-03
NINDS_000068
Namenda
Oprea1_480562
Prestwick0_000978
Prestwick1_000978
Prestwick2_000978
Prestwick3_000978
SPBio_001456
SPBio_002926
ST057652
STK520682
Spectrum2_001408
Spectrum3_000923
Spectrum4_001022
Spectrum5_001355
Spectrum_000607
UNII-W8O17SJF3T
ZERO/006024
memantine
3
Dopamine367851-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With AllopregnanoloneEnrolling by invitationNCT02603926Phase 2
2Citocoline for Treatment of FXTASNot yet recruitingNCT02197104Phase 2
3Memantine Treatment in Fragile X-Associated Tremor/Ataxia SyndromeRecruitingNCT00584948
4Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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

Genetic Tests for Fragile X-Associated Tremor/ataxia Syndrome

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

id Genetic test Affiliating Genes
1 Fragile X-Associated Tremor/ataxia Syndrome23 FMR1

Anatomical Context for Fragile X-Associated Tremor/ataxia Syndrome

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

34
Brain, Cerebellum, Pituitary, Hypothalamus, Adrenal gland, Testes

Animal Models for Fragile X-Associated Tremor/ataxia Syndrome or affiliated genes

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Publications for Fragile X-Associated Tremor/ataxia Syndrome

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

(show top 50)    (show all 130)
idTitleAuthorsYear
1
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report. (27375149)
2016
2
Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. (26898832)
2016
3
Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome. (27647792)
2016
4
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome. (26609701)
2016
5
Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene. (27355274)
2016
6
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. (25954027)
2015
7
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study. (24871547)
2014
8
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. (25136376)
2014
9
Axonal neuropathy in female carriers of the fragile X premutation with fragile X-associated tremor ataxia syndrome. (25388402)
2014
10
Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome. (25606360)
2014
11
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. (25161746)
2014
12
Posterior Subthalamic Area Deep Brain Stimulation for Fragile X-Associated Tremor/Ataxia Syndrome. (24528808)
2014
13
Pure psychiatric presentation of Fragile X-associated tremor/ataxia syndrome. (23889896)
2013
14
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. (23867198)
2013
15
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. (23298734)
2013
16
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. (22568721)
2013
17
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. (23009394)
2013
18
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. (23478018)
2013
19
Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome. (24176424)
2013
20
RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. (22459047)
2012
21
Fragile X-associated tremor/ataxia syndrome. (21827901)
2012
22
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome. (23074671)
2011
23
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. (21558427)
2011
24
Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome. (21596781)
2011
25
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. (21785977)
2011
26
Fragile X-associated tremor ataxia syndrome sine tremor. (21630353)
2011
27
Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. (20410144)
2010
28
Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. (20841969)
2010
29
Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus. (20063436)
2010
30
Assessment of patient and caregiver needs in fragile X-associated tremor/ataxia syndrome by utilizing Q-sort methodology. (21069606)
2010
31
Treatment of fragile-X-associated tremor/ataxia syndrome with deep brain stimulation. (18951504)
2009
32
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. (19574929)
2009
33
MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome. (18080849)
2008
34
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. (18472227)
2008
35
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. (18384046)
2008
36
Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study. (18165971)
2008
37
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. (19014369)
2008
38
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. (18686748)
2008
39
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. (17166801)
2007
40
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. (17591512)
2007
41
Fragile X syndrome vs fragile X-associated tremor/ataxia syndrome. (17296852)
2007
42
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). (16332642)
2006
43
Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. (16124012)
2006
44
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. (16426093)
2006
45
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). (16780889)
2006
46
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. (15956167)
2005
47
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. (15622531)
2005
48
Fragile X-associated tremor/ataxia syndrome and movements disorders. (16003114)
2005
49
Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. (16043816)
2005
50
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. (15060119)
2004

Variations for Fragile X-Associated Tremor/ataxia Syndrome

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1FMR1FMR1, (CGG)n EXPANSIONNT expansionPathogenic

Expression for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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

Pathways for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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GO Terms for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1dendritic spineGO:00431979.6FMR1, SLC1A3
2cell projectionGO:00429959.3FMR1, SLC1A3
3neuron projectionGO:00430059.2FMR1, GRM5, SLC1A3

Sources for Fragile X-Associated Tremor/ataxia Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet