FXTAS
MCID: FRG008
MIFTS: 39

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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Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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: Fragile X-Associated Tremor/ataxia Syndrome, also known as fragile x tremor/ataxia syndrome, is related to fragile x syndrome and mental retardation, and has symptoms including myalgia/muscular pain, impotence/painful erection/priapism/erection troubles and troubles of memory/amnesia/hypermnesia. 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.

Description from OMIM:47 300623

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

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Sources:
20GeneTests, 21Genetics Home Reference, 49Orphanet, 47OMIM, 62UMLS, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
fragile x-associated tremor/ataxia syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

fragile x-associated tremor/ataxia syndrome 20 21 49
fragile x tremor/ataxia syndrome 21 47 62
fragile x associated tremor ataxia syndrome 62
fxtas syndrome 49
fxtas 21


External Ids:

SNOMED-CT via Orphanet59 448045004
UMLS via Orphanet63 C3164069
OMIM47 300623
ICD10 via Orphanet26 G11.2

Related Diseases for Fragile X-Associated Tremor/ataxia Syndrome

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

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

300623

Clinical features from OMIM:

300623

Symptoms:

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

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

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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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33MalaCards
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MalaCards organs/tissues related to Fragile X-Associated Tremor/ataxia Syndrome:

33
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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52PubMed
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Articles related to Fragile X-Associated Tremor/ataxia Syndrome:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Pure psychiatric presentation of Fragile X-associated tremor/ataxia syndrome. (23889896)
2013
2
Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. (22918986)
2013
3
MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients. (23790110)
2013
4
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
5
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. (23867198)
2013
6
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. (23298734)
2013
7
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. (22568721)
2013
8
Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial. (24345444)
2013
9
RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. (22459047)
2012
10
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. (22161987)
2012
11
Fragile X-associated tremor/ataxia syndrome. (21827901)
2012
12
Treatment of fragile X-associated tremor/ataxia syndrome with unilateral deep brain stimulation. (22344717)
2012
13
Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome. (22009357)
2012
14
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome. (23074671)
2011
15
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. (21558427)
2011
16
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
17
Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. (20410144)
2010
18
Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. (20841969)
2010
19
Fragile X-associated tremor/ataxia syndrome (FXTAS) with myoclonus. (20063436)
2010
20
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. (20161676)
2009
21
Levetiracetam improves intention tremor in fragile x-associated tremor/ataxia syndrome. (19471185)
2009
22
Treatment of fragile-X-associated tremor/ataxia syndrome with deep brain stimulation. (18951504)
2009
23
Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). (19070606)
2009
24
Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. (19794313)
2009
25
MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome. (18080849)
2008
26
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. (18472227)
2008
27
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. (18384046)
2008
28
Oculomotor abnormalities in a patient with fragile X-associated tremor/ataxia syndrome. (18329929)
2008
29
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
30
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. (19014369)
2008
31
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. (18686748)
2008
32
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. (17166801)
2007
33
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). (17427188)
2007
34
Fragile X-associated tremor/ataxia syndrome--an older face of the fragile X gene. (17279084)
2007
35
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. (17591512)
2007
36
Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. (17290448)
2007
37
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. (17726686)
2007
38
Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. (17618523)
2007
39
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). (17724287)
2007
40
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). (16332642)
2006
41
Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. (16773616)
2006
42
Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. (16124012)
2006
43
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. (16426093)
2006
44
Fragile X-associated tremor/ataxia syndrome]. (15981162)
2005
45
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. (15956167)
2005
46
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
47
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. (15622531)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Fragile X-Associated Tremor/ataxia Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1FMR1FMR1, (CGG)n EXPANSIONNT expansionPathogenic/card/fragile_x_associated_tremor_ataxia_syndrome

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

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2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Fragile X-Associated Tremor/ataxia Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet