FXTAS
MCID: FRG008
MIFTS: 41

Fragile X-Associated Tremor/ataxia Syndrome (FXTAS)

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 tremor, and has symptoms including ataxia, tremor and gait ataxia. 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 Pregnanolone and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and pituitary, and related phenotypes are depressivity and hypothyroidism

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

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 hypothyroidism 32 occasional (7.5%) HP:0000821
3 hypertension 32 occasional (7.5%) HP:0000822
4 dysarthria 32 hallmark (90%) HP:0001260
5 muscle weakness 32 frequent (33%) HP:0001324
6 dysphagia 32 occasional (7.5%) HP:0002015
7 bowel incontinence 32 occasional (7.5%) HP:0002607
8 hypotension 32 occasional (7.5%) HP:0002615
9 anxiety 32 frequent (33%) HP:0000739
10 gait ataxia 32 hallmark (90%) HP:0002066
11 dysmetria 32 hallmark (90%) HP:0001310
12 intention tremor 32 hallmark (90%) HP:0002080
13 urinary bladder sphincter dysfunction 32 frequent (33%) HP:0002839
14 cerebral cortical atrophy 32 hallmark (90%) HP:0002120
15 memory impairment 32 hallmark (90%) HP:0002354
16 myalgia 32 occasional (7.5%) HP:0003326
17 rigidity 32 frequent (33%) HP:0002063
18 dementia 32 hallmark (90%) HP:0000726
19 obsessive-compulsive behavior 32 frequent (33%) HP:0000722
20 hyporeflexia 32 frequent (33%) HP:0001265
21 bradykinesia 32 occasional (7.5%) HP:0002067
22 pollakisuria 32 frequent (33%) HP:0100515
23 abnormality of brainstem morphology 32 occasional (7.5%) HP:0002363
24 impotence 32 frequent (33%) HP:0000802
25 parkinsonism 32 occasional (7.5%) HP:0001300
26 diffuse cerebellar atrophy 32 frequent (33%) HP:0100275
27 dysesthesia 32 frequent (33%) HP:0012534
28 inertia 32 hallmark (90%) HP:0030216
29 abnormal autonomic nervous system physiology 32 frequent (33%) HP:0012332

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


ataxia, tremor, gait ataxia, myalgia, dysdiadochokinesis, action tremor, bradykinesia, resting tremor, paresthesia lower limb, lower extremity numbness, static tremor

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 Pregnanolone Phase 2 128-20-1
2 Anesthetics Phase 2
3 Central Nervous System Depressants Phase 2
4
Dopamine Approved Not Applicable 51-61-6, 62-31-7 681
5
Memantine Approved, Investigational Not Applicable 19982-08-2 4054
6 Excitatory Amino Acid Antagonists Not Applicable
7 Antiparkinson Agents Not Applicable
8 Excitatory Amino Acids Not Applicable
9 Neurotransmitter Agents Not Applicable
10 Dopamine Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With Allopregnanolone Completed NCT02603926 Phase 2 Allopregnanolone
2 Citocoline for Treatment of FXTAS Completed NCT02197104 Phase 2 citocoline
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, Testes, Adrenal Gland, Hypothalamus

Publications for Fragile X-Associated Tremor/ataxia Syndrome

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

(show top 50) (show all 163)
# 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
Making a Difference-Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). ( 29997574 )
2018
5
ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome. ( 30065951 )
2018
6
MR Imaging Features of Adult-Onset Neuronal Intranuclear Inclusion Disease May Be Indistinguishable from Fragile X-Associated Tremor/Ataxia Syndrome. ( 30072371 )
2018
7
Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study. ( 30187385 )
2018
8
Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome. ( 30243213 )
2018
9
Metabolic pathways modulate the neuronal toxicity associated with Fragile X-Associated Tremor/Ataxia Syndrome. ( 30476102 )
2018
10
Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome. ( 30046972 )
2018
11
Fragile X-associated tremor ataxia syndrome and cognitive impairment. ( 30501392 )
2018
12
Fragile X-associated tremor/ataxia syndrome. ( 29094559 )
2017
13
Iron accumulation and dysregulation in the putamen in fragile X-associated tremor/ataxia syndrome. ( 28233916 )
2017
14
Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome. ( 28707277 )
2017
15
Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome. ( 28444183 )
2017
16
Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome? ( 28884425 )
2017
17
Fragile X-associated tremor/ataxia syndrome: cognitive presentations. ( 28398884 )
2017
18
Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics. ( 28529475 )
2017
19
Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome. ( 28369393 )
2017
20
Reply: Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma. ( 28899012 )
2017
21
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma. ( 28899011 )
2017
22
Fragile X-associated tremor ataxia syndrome presenting as chronic fatigue syndrome. ( 28291595 )
2017
23
FMR1 premutation with Prader-Willi phenotype and fragile X-associated tremor/ataxia syndrome. ( 28469864 )
2017
24
The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome. ( 30363360 )
2017
25
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. ( 27340021 )
2016
26
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. ( 27414076 )
2016
27
Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene. ( 27355274 )
2016
28
What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome? ( 27355912 )
2016
29
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome. ( 27602566 )
2016
30
Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report. ( 27375149 )
2016
31
Memantine Improves Attentional Processes in Fragile X-Associated Tremor/Ataxia Syndrome: Electrophysiological Evidence from a Randomized Controlled Trial. ( 26898832 )
2016
32
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
33
Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development. ( 27277287 )
2016
34
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome. ( 26609701 )
2016
35
MRI-guided focused ultrasound thalamotomy in fragile X-associated tremor/ataxia syndrome. ( 27440151 )
2016
36
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice. ( 27255703 )
2016
37
Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome. ( 27647792 )
2016
38
Small Molecule Recognition and Tools to Study Modulation of r(CGG)(exp) in Fragile X-Associated Tremor Ataxia Syndrome. ( 27276216 )
2016
39
Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology. ( 27355575 )
2016
40
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. ( 25920745 )
2015
41
Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS). ( 25488474 )
2015
42
RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome. ( 25954027 )
2015
43
Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). ( 25763861 )
2015
44
Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome. ( 25498860 )
2015
45
Fragile X-associated tremor/ataxia syndrome. ( 25622649 )
2015
46
Long-term outcome of deep brain stimulation in fragile X-associated tremor/ataxia syndrome. ( 25577024 )
2015
47
Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia. ( 26439425 )
2015
48
Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. ( 26298472 )
2015
49
Fragile X-Associated Tremor/Ataxia Syndrome in a Man in His 30s. ( 26368352 )
2015
50
"Hummingbird Sign" in Fragile X-Associated Tremor/Ataxia Syndrome. ( 30363562 )
2015

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 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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