Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome

Muzar, Zukhrofi; Lozano, Reymundo

doi:10.5582/irdr.2014.01029

Cited by 20 publications

(17 citation statements)

References 106 publications

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“…Other imaging features of FXTAS include T2 hyperintensities in the pons, insula and periventricular white matter and generalised brain and cerebellar atrophy [2]. T2 hyperintensity in the afferent projections of the middle and superior cerebellar peduncles reported in asymptomatic PMC may be the earliest neuroanatomical marker heralding the onset of FXTAS [3].…”

Section: Discussionmentioning

confidence: 98%

“…CCS hyperintensity is encountered as frequently as the MCP sign, occurs more commonly in males and is a marker of disease progression [2].…”

Section: Discussionmentioning

confidence: 99%

“…The middle cerebellar peduncles incorporate frontocerebellar tracts connecting to orbitofrontal and dorsolateral prefrontal cortices and are thus integral to cognitive function. The presence of the MCP sign is correlated with more severe cognitive deficits and a longer history of symptoms [2]. The MCP sign is not specific for FXTAS however, and has been reported in multiple system atrophy of cerebellar type (MSA-C), recessive ataxia and acquired hepatocerebral degeneration [5].…”

Section: Discussionmentioning

confidence: 99%

“…Neuronal toxicity is thought to result from eosinophilic and ubiquitinpositive intranuclear inclusions in neurons and astrocytes in the cerebrum, thalamus, basal ganglia, inferior olivary, dentate and cranial nerve XII nuclei, spinal cord and autonomic ganglia. Furthermore, elevated FMR1 mRNA levels in PMC have been implicated [2].…”

Section: Casementioning

confidence: 99%

“…The classic phenotype of FXTAS is kinetic tremor and cerebellar ataxia [1]. Other clinical manifestations include cognitive decline, psychiatric disorders, peripheral neuropathy and autonomic dysfunction [2]. The progression of FXTAS is variable and life expectancy ranges from 5 to 25 years following onset of symptoms [2].…”

Section: Casementioning

confidence: 99%

See 4 more Smart Citations

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia

Kalus

King

Lui

et al. 2016

Journal of Clinical Neuroscience

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Section: Discussionmentioning

confidence: 98%

“…CCS hyperintensity is encountered as frequently as the MCP sign, occurs more commonly in males and is a marker of disease progression [2].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Casementioning

confidence: 99%

Section: Casementioning

confidence: 99%

See 3 more Smart Citations

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia

Kalus

King

Lui

et al. 2016

Journal of Clinical Neuroscience

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Women with Fragile X–associated Tremor/Ataxia Syndrome

Schneider

Summers

Tassone

et al. 2020

Movement Disord Clin Pract

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Background Background: Fragile X-associated tremor and ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder linked to the FMR1 premutation. Objectives Objectives: FXTAS in women is far less common than in men, and this study represents the largest sample reported to date. Methods Methods: A total of 53 female premutation carriers with FXTAS (mean age , 66.83 years; FXTAS stages 2-5) and 55 age-matched and demographic background-matched control participants (mean age , 61.94 years) underwent a comprehensive molecular, physiological, neuropsychological, and psychiatric assessment. Results Results: The large sample of female premutation carriers showed a wide range of variability of clinical signs and symptom progression. The imaging results showed a middle cerebellar peduncles sign in only 6 patients; another symptom included high-signal intensity in the splenium of the corpus callosum, and diffuse cerebral deep white matter changes (e.g., in the pons) are more common. The rate of psychiatric disorders, especially depression, is higher than in the general population. There is a clear impairment in executive functioning and fine motor skills in connection with a higher FXTAS stage. Conclusions Conclusions: The manifestation of FXTAS symptoms in female carriers can be diverse with a milder phenotype and a lower penetrance than those observed in male premutation carriers. The middle cerebellar peduncles sign is present in only a small percentage of the sample, and we propose that the imaging criteria for FXTAS in women need to be expanded.

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Conventional MRI findings in hereditary degenerative ataxias: a pictorial review

et al. 2021

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Purpose Cerebellar ataxias are a large and heterogeneous group of disorders. The evaluation of brain parenchyma via MRI plays a central role in the diagnostic assessment of these conditions, being mandatory to exclude the presence of other underlying causes in determining the clinical phenotype. Once these possible causes are ruled out, the diagnosis is usually researched in the wide range of hereditary or sporadic ataxias. Methods We here propose a review of the main clinical and conventional imaging findings of the most common hereditary degenerative ataxias, to help neuroradiologists in the evaluation of these patients. Results Hereditary degenerative ataxias are all usually characterized from a neuroimaging standpoint by the presence, in almost all cases, of cerebellar atrophy. Nevertheless, a proper assessment of imaging data, extending beyond the mere evaluation of cerebellar atrophy, evaluating also the pattern of volume loss as well as concomitant MRI signs, is crucial to achieve a proper diagnosis. Conclusion The integration of typical neuroradiological characteristics, along with patient’s clinical history and laboratory data, could allow the neuroradiologist to identify some conditions and exclude others, addressing the neurologist to the more appropriate genetic testing.

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Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome

Cited by 20 publications

References 106 publications

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia

Women with Fragile X–associated Tremor/Ataxia Syndrome

Conventional MRI findings in hereditary degenerative ataxias: a pictorial review

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