FXTAS
MCID: FRG008
MIFTS: 41

Fragile X-Associated Tremor/ataxia Syndrome (FXTAS) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Fragile X-Associated Tremor/ataxia Syndrome

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Genetics Home Reference:21 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 mental retardation and fragile x syndrome, 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 pons.

Disease Ontology:8 A neurodegenerative disease 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.

Description from OMIM:46 300623

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

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Sources:
8Disease Ontology, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Fragile X-Associated Tremor/ataxia Syndrome, Aliases & Descriptions:

Name: Fragile X-Associated Tremor/ataxia Syndrome 8 20 21 48
Fragile X Tremor/ataxia Syndrome 21 46 62
Fxtas Syndrome 8 48
 
Fragile X Associated Tremor Ataxia Syndrome 62
Fxtas 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
fragile x-associated tremor/ataxia syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


External Ids:

Disease Ontology8 DOID:0050879
OMIM46 300623
ICD10 via Orphanet26 G11.2
UMLS via Orphanet63 C3164069

Related Diseases for Fragile X-Associated Tremor/ataxia Syndrome

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Diseases related to Fragile X-Associated Tremor/ataxia Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation31.1FMR1, FRAXA
2fragile x syndrome31.0FRAXA, FMR1
3fragile x-associated primary ovarian insufficiency30.8FRAXA, FMR1
4ataxia11.4
5tremor11.4
6dementia10.8
7neuropathy10.6
8blindness10.6
9alzheimer's disease10.4
10hypertension10.4
11multiple system atrophy10.4
12axonal neuropathy10.4
13mood disorder10.4
14myoclonus10.4
15cerebellar ataxia10.0
16sleep apnea10.0
17spastic paraparesis10.0
18spasticity10.0

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 by clinical synopsis from OMIM:

300623

Clinical features from OMIM:

300623

Symptoms:

48 (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

HPO human phenotypes related to Fragile X-Associated Tremor/ataxia Syndrome:

(show all 55)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 tremor hallmark (90%) HP:0001337
3 cerebral cortical atrophy hallmark (90%) HP:0002120
4 neurological speech impairment hallmark (90%) HP:0002167
5 incoordination hallmark (90%) HP:0002311
6 memory impairment hallmark (90%) HP:0002354
7 developmental regression hallmark (90%) HP:0002376
8 obsessive-compulsive behavior typical (50%) HP:0000722
9 hypertonia typical (50%) HP:0001276
10 reduced tendon reflexes typical (50%) HP:0001315
11 muscle weakness typical (50%) HP:0001324
12 abnormality of the autonomic nervous system typical (50%) HP:0002270
13 paresthesia typical (50%) HP:0003401
14 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
15 abnormal renal physiology typical (50%) HP:0012211
16 erectile abnormalities typical (50%) HP:0100639
17 hypothyroidism occasional (7.5%) HP:0000821
18 hypertension occasional (7.5%) HP:0000822
19 bowel incontinence occasional (7.5%) HP:0002607
20 hypotension occasional (7.5%) HP:0002615
21 myalgia occasional (7.5%) HP:0003326
22 feeding difficulties in infancy occasional (7.5%) HP:0008872
23 urinary incontinence HP:0000020
24 mask-like facies HP:0000298
25 hearing impairment HP:0000365
26 nystagmus HP:0000639
27 depression HP:0000716
28 dementia HP:0000726
29 disinhibition HP:0000734
30 anxiety HP:0000739
31 impotence HP:0000802
32 hypothyroidism HP:0000821
33 saccadic smooth pursuit HP:0001152
34 dysarthria HP:0001260
35 hyporeflexia HP:0001265
36 cerebellar atrophy HP:0001272
37 parkinsonism HP:0001300
38 dysmetria HP:0001310
39 x-linked dominant inheritance HP:0001423
40 gait ataxia HP:0002066
41 bradykinesia HP:0002067
42 dysdiadochokinesis HP:0002075
43 intention tremor HP:0002080
44 postural tremor HP:0002174
45 resting tremor HP:0002322
46 action tremor HP:0002345
47 memory impairment HP:0002354
48 diffuse cerebral atrophy HP:0002506
49 bowel incontinence HP:0002607
50 myalgia HP:0003326
51 adult onset HP:0003581
52 impaired distal vibration sensation HP:0006886
53 poor fine motor coordination HP:0007010
54 premature ovarian failure HP:0008209
55 obsessive-compulsive trait HP:0008770

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

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Drug clinical trials:

Search ClinicalTrials for Fragile X-Associated Tremor/ataxia Syndrome

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 Syndrome20 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:

32
Brain, Cerebellum, Pons, Pituitary, Adrenal gland, Testes, Hypothalamus

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 104)
idTitleAuthorsYear
1
Memantine Effects on Verbal Memory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): a Double-Blind Brain Potential Study. (24871547)
2014
2
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. (25136376)
2014
3
Axonal neuropathy in female carriers of the fragile X premutation with fragile X-associated tremor ataxia syndrome. (25388402)
2014
4
Pure psychiatric presentation of Fragile X-associated tremor/ataxia syndrome. (23889896)
2013
5
Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. (22918986)
2013
6
MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients. (23790110)
2013
7
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
8
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. (23867198)
2013
9
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. (23298734)
2013
10
RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. (22459047)
2012
11
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. (22161987)
2012
12
Fragile X-associated tremor/ataxia syndrome. (21827901)
2012
13
Treatment of fragile X-associated tremor/ataxia syndrome with unilateral deep brain stimulation. (22344717)
2012
14
Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome. (22009357)
2012
15
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome. (23074671)
2011
16
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. (21558427)
2011
17
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
18
Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. (20410144)
2010
19
Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. (20841969)
2010
20
Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus. (20063436)
2010
21
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. (20161676)
2009
22
Levetiracetam improves intention tremor in fragile x-associated tremor/ataxia syndrome. (19471185)
2009
23
Treatment of fragile-X-associated tremor/ataxia syndrome with deep brain stimulation. (18951504)
2009
24
Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). (19070606)
2009
25
Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. (19794313)
2009
26
MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome. (18080849)
2008
27
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. (18472227)
2008
28
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. (18384046)
2008
29
Oculomotor abnormalities in a patient with fragile X-associated tremor/ataxia syndrome. (18329929)
2008
30
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
31
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. (19014369)
2008
32
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. (18686748)
2008
33
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. (17166801)
2007
34
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). (17427188)
2007
35
Fragile X-associated tremor/ataxia syndrome--an older face of the fragile X gene. (17279084)
2007
36
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. (17591512)
2007
37
Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. (17290448)
2007
38
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. (17726686)
2007
39
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. (17618523)
2007
40
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). (17724287)
2007
41
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). (16332642)
2006
42
Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. (16773616)
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
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:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Fragile X-Associated Tremor/ataxia Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet