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{{Infobox disease
⚫
| Name = Fragile X-associated tremor/ataxia syndrome
| Image = Fmr1.jpeg
| Caption = Location of [[FMR1]] gene
| Alt =
| DiseasesDB =
| ICD10 =
| ICD9 =
| ICDO =
| OMIM = 300623
| MedlinePlus =
| eMedicineSubj =
| eMedicineTopic =
| MeshID =
⚫
}}
'''Fragile X-associated tremor/ataxia syndrome''' ('''FXTAS''') is a late onset neurodegenerative disorder associated with problems of movement, memory, and the [[autonomic nervous system]]. It is related to the disease [[fragile X syndrome]], although FXTAS is a clinically distinct syndrome. In [[fragile X syndrome]] (FXS), the fragile X mental retardation 1 gene, [[FMR1]], is silenced; in FXTAS [[FMR1]] is overexpressed and interferes with brain function.


{| class="infobox"
Both FXS and FXTAS are caused by a [[trinucleotide repeat expansion]] in [[FMR1]]. This CGG repeat expansion is smaller in FXTAS: the disease only occurs in individuals with a Fragile X permutation. It most often occurs in men, but can present in women. There is no cure for FXTAS, but several of the symptoms can be managed with medication.<ref>Amiri et al. Fragile X–Associated Tremor/Ataxia Syndrome. Archives of Neurology. VOL 65 (NO. 1), Jan 2008</ref>
⚫
! colspan="2" |<big>Fragile X-associated tremor/ataxia syndrome</big>
|-
|'''Abbreviation''':
|FXTAS
|-
|'''Pronunciation:'''
|''"FAX-tass"''<ref name=":1">{{Cite web|url=https://www.nichd.nih.gov/health/topics/fxtas/Pages/default.aspx|title=Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS): Overview|website=www.nichd.nih.gov|language=en-US|access-date=2017-07-07}}</ref>
|-
| colspan="2" |[[File:Fmr1.jpeg|center|Location of the [[FMR1]] gene]]''Location of the [[FMR1]] gene''
|-
|'''Specialty''':
|[[Neurology]], [[Movement disorders|Movement Disorders]]
|-
⚫
|'''Symptoms:'''
|[[intention tremor]], [[ataxia]], and [[parkinsonism]]
|-
|'''Prevalence:'''
|In patients over 50 with FMR1 premutation:
* 40-45% (males)<ref name=":2" />
* 16.5% (females)<ref name=":2">{{Cite book|url=http://www.ncbi.nlm.nih.gov/books/NBK1384/|title=GeneReviews(®)|last=Saul|first=Robert A.|last2=Tarleton|first2=Jack C.|date=1993|publisher=University of Washington, Seattle|editor-last=Pagon|editor-first=Roberta A.|location=Seattle (WA)|pmid=20301558|editor-last2=Adam|editor-first2=Margaret P.|editor-last3=Ardinger|editor-first3=Holly H.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Amemiya|editor-first5=Anne|editor-last6=Bean|editor-first6=Lora JH|editor-last7=Bird|editor-first7=Thomas D.|editor-last8=Ledbetter|editor-first8=Nikki|editor-last9=Mefford|editor-first9=Heather C.}}</ref>
|-
|'''Onset:'''
|Late-onset, diagnosed in patients <50 years<ref name=":1" />
|-
|'''Diagnosis:'''
|Presentation, family history, genetic testing, and MRI
|-
|'''OMIM code:'''
|[https://omim.org/entry/300623 300623]
|-
| colspan="2" |[[wikidata:Q1440436|<sub>Edit on Wikidata</sub>]]
⚫
|}
'''Fragile X-associated tremor/ataxia syndrome''' (FXTAS) is a late-onset [[Neurodegeneration|neurodegenerative disorder]] associated with male premutation carriers of [[Fragile X syndrome]] (FXS) over the age of 50.<ref name=":3">{{Cite journal|last=Wheeler|first=Anne|last2=Raspa|first2=Melissa|last3=Hagerman|first3=Randi|last4=Mailick|first4=Marsha|last5=Riley|first5=Catharine|date=2017-06-01|title=Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families|url=http://pediatrics.aappublications.org/content/139/Supplement_3/S172|journal=Pediatrics|language=en|volume=139|issue=Supplement 3|pages=S172–S182|doi=10.1542/peds.2016-1159D|issn=0031-4005}}</ref><ref>{{Cite book|url=https://ucdavis.pure.elsevier.com/en/publications/the-fragile-x-associated-tremor-ataxia-syndrome-fxtas|title=The fragile X-associated tremor ataxia syndrome (FXTAS)|date=2010|publisher=Springer New York|isbn=9781441958051|language=en|doi=10.1007/978-1-4419-5805-1}}</ref> The main clinical features of FXTAS include [[Movement disorders|problems of movement]] with [[Cerebellar ataxia|cerebellar gait ataxia]] and action [[tremor]].<ref name=":3" /><ref name=":5" /> Associated features include [[parkinsonism]], cognitive decline, and dysfunction of the [[autonomic nervous system]].<ref name=":3" /><ref name=":5">{{Cite journal|last=Leehey|first=M. A.|last2=Berry-Kravis|first2=E.|last3=Goetz|first3=C. G.|last4=Zhang|first4=L.|last5=Hall|first5=D. A.|last6=Li|first6=L.|last7=Rice|first7=C. D.|last8=Lara|first8=R.|last9=Cogswell|first9=J.|date=2008-04-15|title=FMR1 CGG repeat length predicts motor dysfunction in premutation carriers|url=https://www.ncbi.nlm.nih.gov/pubmed/18057320|journal=Neurology|volume=70|issue=16 Pt 2|pages=1397–1402|doi=10.1212/01.wnl.0000281692.98200.f5|issn=1526-632X|pmc=PMC2685188|pmid=18057320}}</ref> FXTAS is found in Fragile X "premutation" carriers, which is defined as a [[Trinucleotide repeat expansion disease|trinucleotide repeat expansion]] of 55-200 CCG repeats in the Fragile X mental retardation-1 ([[FMR1]]) gene.<ref name=":4">{{Cite journal|last=Kong|first=Ha Eun|last2=Zhao|first2=Juan|last3=Xu|first3=Shunliang|last4=Jin|first4=Peng|last5=Jin|first5=Yan|date=2017-05-05|title=Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics|url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418347/|journal=Frontiers in Cellular Neuroscience|volume=11|doi=10.3389/fncel.2017.00128|issn=1662-5102|pmc=PMC5418347|pmid=28529475}}</ref> 4-40 CCG repeats in this gene is considered normal, while individual with >200 repeats have full Fragile X Syndrome.<ref name=":4" />


In contrast to FXS full mutation, which is diagnosed early in childhood, symptoms of FXTAS manifest in individuals over the age of 50<ref name=":1" />. Like FXS, FXTAS is most common and most severe in males due to the mutation's [[Sex linkage|X-linked inheritance pattern]].<ref name=":2" /> FXTAS has an incidence of 40-45% (male) and 16.1% (female) among FXS premutation carriers over the age of 50.<ref name=":2" />
⚫
==Symptoms==


FMR1 [[Messenger RNA|mRNA]] is found to be elevated in patients with FXTAS<ref name=":4" /> in contrast to FXS, where the FMR1 gene is transcriptionally silenced via [[DNA methylation]].<ref>{{Cite journal|last=Colak|first=Dilek|last2=Zaninovic|first2=Nikica|last3=Cohen|first3=Michael S.|last4=Rosenwaks|first4=Zev|last5=Yang|first5=Wang-Yong|last6=Gerhardt|first6=Jeannine|last7=Disney|first7=Matthew D.|last8=Jaffrey|first8=Samie R.|date=2014-02-28|title=Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome|url=https://www.ncbi.nlm.nih.gov/pubmed/24578575|journal=Science (New York, N.Y.)|volume=343|issue=6174|pages=1002–1005|doi=10.1126/science.1245831|issn=1095-9203|pmc=PMC4357282|pmid=24578575}}</ref> In both diseases the FMR1 gene product, Fragile X mental retardation protein (FMRP) is diminished, but in FXTAS this is believed to be mediated by [[RNA interference|RNA toxicity]], while in FXS, FMRP is absent due to transcriptional silencing.<ref name=":4" />
⚫
The physical symptoms of FXTAS include an intention tremor, ataxia, and [[parkinsonism]]. This includes small, shuffling steps, muscle rigidity and slowed speech, as well as neuropathic symptoms. As the disease progresses to the more advanced stages, an individual with FXTAS is also at risk of autonomic dysfunction: hypertension, bowel and bladder dysfunction, and impotence.<ref name=Hagerman>{{cite journal|last=Hagerman|first=PJ|author2=Hagerman RJ|title=Fragile X-associated tremor/ataxia syndrome (FXTAS)|journal=Mental Retardation and Developmental Disabilities Research Reviews|year=2004|volume=10|issue=1|pages=25–30|doi=10.1002/mrdd.20005}}<!--|accessdate=17 May 2011--></ref>


There is no cure for FXTAS, but several of the symptoms can be managed with medication.<ref name=":4" />
⚫
An individual with FXTAS may also exhibit the following symptoms: a decrease in cognition, which includes diminishing short-term memory and executive function skills, declining math and spelling abilities and decision-making abilities. FXTAS may also result in changes in personality, due to alterations of the limbic area in the brain. This includes increased irritability, angry outbursts, and impulsive behaviour<ref name=Hagerman/>


==Treatment==
== Contents ==
  [[null hide]] 
⚫
* [[Fragile X-associated tremor/ataxia syndrome#Symptoms|1Symptoms]]
* [[Fragile X-associated tremor/ataxia syndrome#Diagnosis|2Diagnosis]]
* [[Fragile X-associated tremor/ataxia syndrome#Prognosis and Medical Management|3Prognosis]]
* [[Fragile X-associated tremor/ataxia syndrome#Medical Management & Treatment|4Medical Management & Treatment]]
* [[Fragile X-associated tremor/ataxia syndrome#References|5References]]
* [[Fragile X-associated tremor/ataxia syndrome#See also|6See also]]


== Symptoms[edit | edit source] ==
⚫
There is no cure for FXTAS. Current treatment includes medications for alleviating symptoms of tremor, ataxia, mood changes, anxiety, cognitive decline, dementia, neuropathic pain, or fibromyalgia.<ref>Hall, Deborah A., and Joan A. O’keefe. “Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment.” Ed. Elan D. Louis. Tremor and Other Hyperkinetic Movements 2 (2012): tre–02–56–352–1. Print. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3570061/</ref> Neurological rehabilitation has not been studied for patients with FXTAS but should also be considered as a possible form of therapy. Additionally, occupational and physical therapy may help to improve performance of functional tasks.
⚫
The physical symptoms of FXTAS include an intention tremor, cerebellar ataxia, and [[parkinsonism]]. This includes small, shuffling steps, muscle rigidity and slowed speech, as well as neuropathic symptoms. As the disease progresses to the more advanced stages, an individual with FXTAS is also at risk of autonomic dysfunction: hypertension, bowel and bladder dysfunction, and impotence.


⚫
An individual with FXTAS may also exhibit the following symptoms: a decrease in cognition, which includes diminishing short-term memory and executive function skills, declining math and spelling abilities and decision-making abilities. FXTAS may also result in changes in personality, due to alterations of the limbic area in the brain. This includes increased irritability, angry outbursts, and impulsive behaviour
⚫
The medical management of FXTAS aims to reduce the level of disability and minimize symptoms. Presently, there are many gaps in the research on the management of FXTAS, as the disorder was first described in the literature in 2001. There is no treatment modality aimed at reversing the pathogenesis of FXTAS.<ref name=Berry/> However, there are a variety of drug therapies that are being utilized in the management of FXTAS symptoms, although there is a lack of randomized control trials assessing the efficacy these therapies and support is limited to anecdotal evidence.<ref name=Hagerman2>{{cite journal|last=Hagerman|first=R.J. |author2=Hall, D.A. |author3=Coffey, S. |author4=Leehey, M. |author5=Bourgeois, J. |author6=Gould, J. |author7=Zhang, L. |author8=Seritan, A. |author9=Berry-Kravis, E |author10=Olichney, J. |author11=Miller, J.W. |author12=Fong, A.L. |author13=Carpenter, R. |author14=Bodine, C. |author15=Gane, L.W. |author16=Rainin, E. |author17=Hagerman, H. |author18=Hagerman, P.J. |title=Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.|journal=Clinical Interventions in Aging|year=2008|volume=3|issue=2|pages=251–262}}</ref> Therefore, many of the treatments are based on what has been helpful in disorders with similar clinical presentations<ref name=Berry/>


== Diagnosis [edit | edit source] ==
==Prognosis ==
FXTAS can be diagnosed using a combination of molecular, clinical, and radiological findings. In order for individuals to acquire FXTAS, they must first be permutation carriers, having between 55-200 CGG [[trinucleotide repeat expansion]] of the [[FMR1]] gene. A definite, probable, or possible diagnosis of FXTAS can be assigned based on a clinician's confidence based on combined clinical or radiological findings in conjunction with the molecular permutation. <ref name=":0">{{Cite journal|last=Hall|first=Deborah A.|last2=O'keefe|first2=Joan A.|date=2012-05-11|title=Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment|url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3570061/|journal=Tremor and Other Hyperkinetic Movements|volume=2|doi=10.7916/D8HD7TDS|issn=2160-8288|pmc=PMC3570061|pmid=23439567}}</ref>


Clinical findings are divided into major and minor symptoms. Major symptoms include [[intention tremor]] and gait [[ataxia]]. Minor symptoms such as [[parkinsonism]], short-term memory deficit, and executive function decline can further contribute to a diagnosis of FXTAS. Radiological findings are similarly divided into major and minor categories. As patients with FXTAS can have distinct brain scans from other movement disorders, a scan showing white matter lesions of the middle cerebellar peduncle is a major finding that can be attributed to FXTAS. Overall or generalized brain tissue atrophy and cerebral white matter lesions can also be minor indicators for a diagnosis. <ref name=":0" />
The progression of symptoms varies widely between each case of FXTAS; the onset of symptoms may be gradual, with progression of the disease spanning multiple years or decades. Alternatively, symptoms may progress rapidly.<ref name=Berry>{{cite journal|last=Berry-Kravis|first=E |author2=Abrams, L. |author3=Coffey, S.M. |author4=Hall, D.A. |author5=Greco, C. |author6=Gane, L.W. |author7=Grigsby, J. |author8=Bourgeois, J.A. |author9=Finucane, B. |author10=Jacquemont, S. |author11=Brunberg, J.A. |author12=Zhang, L. |author13=Lin, J. |author14=Tassone, F. |author15=Hagerman, P.J. |author16=Hagerman, R.J. |author17=Leehey, M.A |title=Fragile X-Associated Tremor/Ataxia Syndrome: Clinical Features, Genetics, and Testing Guidelines|journal=Movement Disorders|year=2007|volume=22|issue=14|pages=2018–2030|doi=10.1002/mds.21493}}<!--|accessdate=17 May 2011--></ref>


For a definite diagnosis to be made, a major radiological finding and one major clinical finding must be present. Probable diagnosis can be made off either a major radiological finding and a minor clinical finding or two major clinical findings alone. The possible category for diagnosis can be made with a minor radiological finding and a major clinical finding. <ref name=":0" />
==References==
{{reflist|2}}


== Prognosis [edit | edit source] ==
{{Disorders of translation and posttranslational modification}}
The progression of symptoms varies widely between each case of FXTAS; the onset of symptoms may be gradual, with progression of the disease spanning multiple years or decades. Alternatively, symptoms may progress rapidly.


FXTAS has shown strong age-dependent penetrance, afflicting older permutation carriers with greater prevalence. Male carriers, age 50 and above have a 30% chance of acquiring FXTAS, while male carriers, age 75 and above, have a 75% chance of developing FXTAS. While initially described to affect male carriers, female carriers of the [[FMR1]] gene mutation have also been found to develop FXTAS. However, due to X-inactivation, female carriers are much less likely to develop classic ataxia and tremor signs for FXTAS, instead demonstrating symptoms such as [[fibromyalgia]], thyroid disease, [[hypertension]], and [[seizures]]. <ref name=":0" />
{{Pervasive developmental disorders}}


== Medical Management & Treatment [edit | edit source] ==
⚫
{{DEFAULTSORT:Fragile X-associated tremor ataxia syndrome}}
⚫
The medical management of FXTAS aims to reduce the level of disability and minimize symptoms. Presently, there are many gaps in the research on the management of FXTAS, as the disorder was first described in the literature in 2001. There is no treatment modality aimed at reversing the pathogenesis of FXTAS. However, there are a variety of drug therapies that are being utilized in the management of FXTAS symptoms, although there is a lack of randomized control trials assessing the efficacy these therapies and support is limited to anecdotal evidence. Therefore, many of the treatments are based on what has been helpful in disorders with similar clinical presentations.<ref name=":0" />
[[Category:Autism]]

[[Category:Syndromes]]
⚫
There is no cure for FXTAS. Current treatment includes medications for alleviating symptoms of tremor, ataxia, mood changes, anxiety, cognitive decline, dementia, neuropathic pain, or fibromyalgia. Neurological rehabilitation has not been studied for patients with FXTAS but should also be considered as a possible form of therapy. Additionally, occupational and physical therapy may help to improve performance of functional tasks.<ref name=":0" />

== References[edit | edit source] ==
# '''[[Fragile X-associated tremor/ataxia syndrome#cite ref-1|Jump up^]]''' Amiri et al. Fragile X–Associated Tremor/Ataxia Syndrome. Archives of Neurology. VOL 65 (NO. 1), Jan 2008
# ^ [[Fragile X-associated tremor/ataxia syndrome#cite ref-Hagerman 2-0|Jump up to:<sup>'''''a'''''</sup>]] [[Fragile X-associated tremor/ataxia syndrome#cite ref-Hagerman 2-1|<sup>'''''b'''''</sup>]] 
# ^ [[Fragile X-associated tremor/ataxia syndrome#cite ref-Berry 3-0|Jump up to:<sup>'''''a'''''</sup>]] [[Fragile X-associated tremor/ataxia syndrome#cite ref-Berry 3-1|<sup>'''''b'''''</sup>]] [[Fragile X-associated tremor/ataxia syndrome#cite ref-Berry 3-2|<sup>'''''c'''''</sup>]] 
# '''[[Fragile X-associated tremor/ataxia syndrome#cite ref-Hagerman2 4-0|Jump up^]]''' 
#
== See also[edit | edit source] ==
* [[Fragile X syndrome]]

Revision as of 16:41, 19 July 2017

Fragile X-associated tremor/ataxia syndrome
Abbreviation: FXTAS
Pronunciation: "FAX-tass"[1]
Location of the FMR1 gene
Location of the FMR1 gene
Location of the FMR1 gene
Specialty: Neurology, Movement Disorders
Symptoms: intention tremor, ataxia, and parkinsonism
Prevalence: In patients over 50 with FMR1 premutation:
  • 40-45% (males)[2]
  • 16.5% (females)[2]
Onset: Late-onset, diagnosed in patients <50 years[1]
Diagnosis: Presentation, family history, genetic testing, and MRI
OMIM code: 300623
Edit on Wikidata

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with male premutation carriers of Fragile X syndrome (FXS) over the age of 50.[3][4] The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor.[3][5] Associated features include parkinsonism, cognitive decline, and dysfunction of the autonomic nervous system.[3][5] FXTAS is found in Fragile X "premutation" carriers, which is defined as a trinucleotide repeat expansion of 55-200 CCG repeats in the Fragile X mental retardation-1 (FMR1) gene.[6] 4-40 CCG repeats in this gene is considered normal, while individual with >200 repeats have full Fragile X Syndrome.[6]

In contrast to FXS full mutation, which is diagnosed early in childhood, symptoms of FXTAS manifest in individuals over the age of 50[1]. Like FXS, FXTAS is most common and most severe in males due to the mutation's X-linked inheritance pattern.[2] FXTAS has an incidence of 40-45% (male) and 16.1% (female) among FXS premutation carriers over the age of 50.[2]

FMR1 mRNA is found to be elevated in patients with FXTAS[6] in contrast to FXS, where the FMR1 gene is transcriptionally silenced via DNA methylation.[7] In both diseases the FMR1 gene product, Fragile X mental retardation protein (FMRP) is diminished, but in FXTAS this is believed to be mediated by RNA toxicity, while in FXS, FMRP is absent due to transcriptional silencing.[6]

There is no cure for FXTAS, but several of the symptoms can be managed with medication.[6]

Contents

  null hide 

Symptoms[edit | edit source]

The physical symptoms of FXTAS include an intention tremor, cerebellar ataxia, and parkinsonism. This includes small, shuffling steps, muscle rigidity and slowed speech, as well as neuropathic symptoms. As the disease progresses to the more advanced stages, an individual with FXTAS is also at risk of autonomic dysfunction: hypertension, bowel and bladder dysfunction, and impotence.

An individual with FXTAS may also exhibit the following symptoms: a decrease in cognition, which includes diminishing short-term memory and executive function skills, declining math and spelling abilities and decision-making abilities. FXTAS may also result in changes in personality, due to alterations of the limbic area in the brain. This includes increased irritability, angry outbursts, and impulsive behaviour

Diagnosis [edit | edit source]

FXTAS can be diagnosed using a combination of molecular, clinical, and radiological findings. In order for individuals to acquire FXTAS, they must first be permutation carriers, having between 55-200 CGG trinucleotide repeat expansion of the FMR1 gene. A definite, probable, or possible diagnosis of FXTAS can be assigned based on a clinician's confidence based on combined clinical or radiological findings in conjunction with the molecular permutation. [8]

Clinical findings are divided into major and minor symptoms. Major symptoms include intention tremor and gait ataxia. Minor symptoms such as parkinsonism, short-term memory deficit, and executive function decline can further contribute to a diagnosis of FXTAS. Radiological findings are similarly divided into major and minor categories. As patients with FXTAS can have distinct brain scans from other movement disorders, a scan showing white matter lesions of the middle cerebellar peduncle is a major finding that can be attributed to FXTAS. Overall or generalized brain tissue atrophy and cerebral white matter lesions can also be minor indicators for a diagnosis. [8]

For a definite diagnosis to be made, a major radiological finding and one major clinical finding must be present. Probable diagnosis can be made off either a major radiological finding and a minor clinical finding or two major clinical findings alone. The possible category for diagnosis can be made with a minor radiological finding and a major clinical finding. [8]

Prognosis [edit | edit source]

The progression of symptoms varies widely between each case of FXTAS; the onset of symptoms may be gradual, with progression of the disease spanning multiple years or decades. Alternatively, symptoms may progress rapidly.

FXTAS has shown strong age-dependent penetrance, afflicting older permutation carriers with greater prevalence. Male carriers, age 50 and above have a 30% chance of acquiring FXTAS, while male carriers, age 75 and above, have a 75% chance of developing FXTAS. While initially described to affect male carriers, female carriers of the FMR1 gene mutation have also been found to develop FXTAS. However, due to X-inactivation, female carriers are much less likely to develop classic ataxia and tremor signs for FXTAS, instead demonstrating symptoms such as fibromyalgia, thyroid disease, hypertension, and seizures. [8]

Medical Management & Treatment [edit | edit source]

The medical management of FXTAS aims to reduce the level of disability and minimize symptoms. Presently, there are many gaps in the research on the management of FXTAS, as the disorder was first described in the literature in 2001. There is no treatment modality aimed at reversing the pathogenesis of FXTAS. However, there are a variety of drug therapies that are being utilized in the management of FXTAS symptoms, although there is a lack of randomized control trials assessing the efficacy these therapies and support is limited to anecdotal evidence. Therefore, many of the treatments are based on what has been helpful in disorders with similar clinical presentations.[8]

There is no cure for FXTAS. Current treatment includes medications for alleviating symptoms of tremor, ataxia, mood changes, anxiety, cognitive decline, dementia, neuropathic pain, or fibromyalgia. Neurological rehabilitation has not been studied for patients with FXTAS but should also be considered as a possible form of therapy. Additionally, occupational and physical therapy may help to improve performance of functional tasks.[8]

References[edit | edit source]

  1. Jump up^ Amiri et al. Fragile X–Associated Tremor/Ataxia Syndrome. Archives of Neurology. VOL 65 (NO. 1), Jan 2008
  2. ^ Jump up to:a b 
  3. ^ Jump up to:a b c 
  4. Jump up^ 

See also[edit | edit source]

  1. ^ a b c "Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS): Overview". www.nichd.nih.gov. Retrieved 2017-07-07.
  2. ^ a b c d Saul, Robert A.; Tarleton, Jack C. (1993). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews(®). Seattle (WA): University of Washington, Seattle. PMID 20301558.
  3. ^ a b c Wheeler, Anne; Raspa, Melissa; Hagerman, Randi; Mailick, Marsha; Riley, Catharine (2017-06-01). "Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families". Pediatrics. 139 (Supplement 3): S172–S182. doi:10.1542/peds.2016-1159D. ISSN 0031-4005.
  4. ^ The fragile X-associated tremor ataxia syndrome (FXTAS). Springer New York. 2010. doi:10.1007/978-1-4419-5805-1. ISBN 9781441958051.
  5. ^ a b Leehey, M. A.; Berry-Kravis, E.; Goetz, C. G.; Zhang, L.; Hall, D. A.; Li, L.; Rice, C. D.; Lara, R.; Cogswell, J. (2008-04-15). "FMR1 CGG repeat length predicts motor dysfunction in premutation carriers". Neurology. 70 (16 Pt 2): 1397–1402. doi:10.1212/01.wnl.0000281692.98200.f5. ISSN 1526-632X. PMC 2685188. PMID 18057320.{{cite journal}}: CS1 maint: PMC format (link)
  6. ^ a b c d e Kong, Ha Eun; Zhao, Juan; Xu, Shunliang; Jin, Peng; Jin, Yan (2017-05-05). "Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics". Frontiers in Cellular Neuroscience. 11. doi:10.3389/fncel.2017.00128. ISSN 1662-5102. PMC 5418347. PMID 28529475.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  7. ^ Colak, Dilek; Zaninovic, Nikica; Cohen, Michael S.; Rosenwaks, Zev; Yang, Wang-Yong; Gerhardt, Jeannine; Disney, Matthew D.; Jaffrey, Samie R. (2014-02-28). "Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome". Science (New York, N.Y.). 343 (6174): 1002–1005. doi:10.1126/science.1245831. ISSN 1095-9203. PMC 4357282. PMID 24578575.{{cite journal}}: CS1 maint: PMC format (link)
  8. ^ a b c d e f Hall, Deborah A.; O'keefe, Joan A. (2012-05-11). "Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment". Tremor and Other Hyperkinetic Movements. 2. doi:10.7916/D8HD7TDS. ISSN 2160-8288. PMC 3570061. PMID 23439567.{{cite journal}}: CS1 maint: PMC format (link)
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