MCID: FRG008
MIFTS: 41

Fragile X-Associated Tremor/ataxia Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

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Sources:
22GeneTests, 23Genetics Home Reference, 65UMLS, 10Disease Ontology, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

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

Name: Fragile X-Associated Tremor/ataxia Syndrome 10 22 23 12 51
Fragile X Tremor/ataxia Syndrome 22 23 65
Fxtas Syndrome 10 51
 
Fxtas 22 23
Fragile X-Associated Tremor Ataxia Syndrome 22

Characteristics:

Orphanet epidemiological data:

51
fragile x-associated tremor/ataxia syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adult; Age of death: elderly

Classifications:



External Ids:

Disease Ontology10 DOID:0050879
Orphanet51 93256
ICD10 via Orphanet28 G11.2
UMLS via Orphanet66 C3164069
UMLS65 C1839780

Summaries for Fragile X-Associated Tremor/ataxia Syndrome

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Genetics Home Reference:23 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 cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy, abnormal gait and ataxia/incoordination/trouble of the equilibrium. An important gene associated with Fragile X-Associated Tremor/ataxia Syndrome is FMR1 (Fragile X Mental Retardation 1). Affiliated tissues include brain, cerebellum and lung.

Disease Ontology:10 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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Symptoms:

 51 (show all 29)
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • elocution disorders/dysarthria/dysphonia
  • psychic/psychomotor regression/dementia/intellectual decline
  • troubles of memory/amnesia/hypermnesia
  • x-linked dominant inheritance
  • fragile chromosome x site
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • impotence/painful erection/priapism/erection troubles
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • dysautonomia/autonomous nervous sytem anomalies
  • peripheral neuropathy
  • sphincter dysfunction
  • hypertonia/spasticity/rigidity/stiffness
  • areflexia/hyporeflexia
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • obsessive-compulsive disorder
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • muscle weakness/flaccidity
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • encopresis/fecal incontinence
  • chronic arterial hypertension
  • hypotension
  • hypothyroidy
  • midbrain/brainstem/pons/medulla anomalies
  • myalgia/muscular pain

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


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

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):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1PregnanolonePhase 210
2Central Nervous System DepressantsPhase 210016
3AnestheticsPhase 27385
4
Memantineapproved, investigational17219982-08-24054
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
5
Dopamineapproved308462-31-7, 51-61-6681
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 Hcl
Dopamine 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
6Neurotransmitter Agents14795
7Antiparkinson Agents1312
8Excitatory Amino Acids1109
9Excitatory Amino Acid Antagonists1095
10Dopamine Agents3084

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

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 Syndrome22 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:

33
Brain, Cerebellum, Lung, Breast, Tonsil, Pons, Testes

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

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MGI Mouse Phenotypes related to Fragile X-Associated Tremor/ataxia Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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 120)
idTitleAuthorsYear
1
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
2
Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. (26898832)
2016
3
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome. (26609701)
2016
4
Long-term outcome of deep brain stimulation in fragile X-associated tremor/ataxia syndrome. (25577024)
2015
5
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. (25920745)
2015
6
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study. (24871547)
2014
7
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. (25136376)
2014
8
Axonal neuropathy in female carriers of the fragile X premutation with fragile X-associated tremor ataxia syndrome. (25388402)
2014
9
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome. (25471011)
2014
10
Pure psychiatric presentation of Fragile X-associated tremor/ataxia syndrome. (23889896)
2013
11
Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. (22918986)
2013
12
MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients. (23790110)
2013
13
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
14
RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. (22459047)
2012
15
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. (22161987)
2012
16
Fragile X-associated tremor/ataxia syndrome. (21827901)
2012
17
Treatment of fragile X-associated tremor/ataxia syndrome with unilateral deep brain stimulation. (22344717)
2012
18
Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome. (22009357)
2012
19
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome. (23074671)
2011
20
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. (21558427)
2011
21
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. (21116185)
2011
22
Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. (20410144)
2010
23
Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. (20841969)
2010
24
Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus. (20063436)
2010
25
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. (20161676)
2009
26
Levetiracetam improves intention tremor in fragile x-associated tremor/ataxia syndrome. (19471185)
2009
27
Treatment of fragile-X-associated tremor/ataxia syndrome with deep brain stimulation. (18951504)
2009
28
Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). (19070606)
2009
29
Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. (19794313)
2009
30
MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome. (18080849)
2008
31
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. (18472227)
2008
32
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. (18384046)
2008
33
Oculomotor abnormalities in a patient with fragile X-associated tremor/ataxia syndrome. (18329929)
2008
34
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
35
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. (19014369)
2008
36
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. (17166801)
2007
37
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). (17427188)
2007
38
Fragile X-associated tremor/ataxia syndrome--an older face of the fragile X gene. (17279084)
2007
39
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. (17591512)
2007
40
Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. (17290448)
2007
41
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. (17726686)
2007
42
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). (16332642)
2006
43
Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. (16773616)
2006
44
Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. (16124012)
2006
45
Fragile X-associated tremor/ataxia syndrome]. (15981162)
2005
46
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. (15956167)
2005
47
GRAND ROUNDS: an atypical progressive dementia in a male carrier of the fragile X premutation: an example of fragile X-associated tremor/ataxia syndrome. (16131344)
2005
48
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. (15065016)
2004
49
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. (15060119)
2004
50
Fragile X-associated tremor/ataxia syndrome (FXTAS). (14994285)
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
1neuron projectionGO:00430059.7FMR1, GRM5

Sources for Fragile X-Associated Tremor/ataxia Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet