A Japanese Case of Fragile-X-Associated Tremor/ataxia Syndrome (FXTAS)

Ishii, Kazuhiro; Hosaka, Ai; Adachi, Kaori; Nanba, Eiji; Tamaoka, Akira

doi:10.2169/internalmedicine.49.3258

Cited by 10 publications

(7 citation statements)

References 22 publications

(5 reference statements)

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“…Until recently FXTAS was defined as a late-onset neurodegenerative disorder, but evidence from animal models and from observations of children with elevated levels of FMR1 mRNA showing developmental delay, behaviour difficulties and increased seizure activity, suggest that the underlying pathogenic process may begin at or before birth [ 34 ]. Neuroimaging studies of affected individuals show global loss of brain volume, in particular cerebellar and cortical atrophy and hyperintensity white matter lesions around the periventricular area and in the middle cerebellar peduncles [ 35 ].…”

Section: Clinical and Molecular Descriptionmentioning

confidence: 99%

X-linked disorders with cerebellar dysgenesis

Zanni

Bertini

2011

Orphanet J Rare Dis

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X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) visible on brain imaging, caused by gene mutations or genomic imbalances on the X-chromosome. The neurological features of XLCD include hypotonia, developmental delay, intellectual disability, ataxia and/or other cerebellar signs. Normal cognitive development has also been reported. Cerebellar dysgenesis may be isolated or associated with other brain malformations or multiorgan involvement. There are at least 15 genes on the X-chromosome that have been constantly or occasionally associated with a pathological cerebellar phenotype. 8 XLCD loci have been mapped and several families with X-linked inheritance have been reported. Recently, two recurrent duplication syndromes in Xq28 have been associated with cerebellar hypoplasia. Given the report of several forms of XLCD and the excess of males with ataxia, this group of conditions is probably underestimated and families of patients with neuroradiological and clinical evidence of a cerebellar disorder should be counseled for high risk of X-linked inheritance.

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Section: Clinical and Molecular Descriptionmentioning

confidence: 99%

X-linked disorders with cerebellar dysgenesis

Zanni

Bertini

2011

Orphanet J Rare Dis

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“…The exact reason for this is currently unknown. Recently, Ishii et al [12] reported the first Japanese FXTAS patient who was initially diagnosed with essential tremor. Recognizing FXTAS patients with predominant cognitive impairment would contribute to our understanding of the disease's phenotypic variation.…”

Section: Discussionmentioning

confidence: 99%

A Patient with Fragile X-Associated Tremor/Ataxia Syndrome Presenting with Executive Cognitive Deficits and Cerebral White Matter Lesions

et al. 2011

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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that primarily affects males who are carriers of a premutation of a CGG expansion in the FMR1 gene. In Asian populations, FXTAS has rarely been reported. Here, we report the case of a Japanese FXTAS patient who showed predominant executive cognitive deficits as the main feature of his disease. In contrast, the patient exhibited only very mild symptoms of intention tremor and ataxia, which did not interfere with daily activities. A gene analysis revealed that the patient carried a premutation of a CGG expansion (111 CGG repeats) in the FMR1 gene. The mRNA expression level of FMR1 in the patient was 1.5-fold higher than in controls. On brain MRI scans, fluid-attenuated inversion recovery images showed high-intensity lesions in the middle cerebellar peduncles and the cerebral white matter, with a frontal predominance. The present case extends previous notions regarding the cognitive impairment in FXTAS patients. Recognizing FXTAS patients with predominant cognitive impairment from various ethnic backgrounds would contribute to our understanding of the phenotypic variation of this disease.

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“…The syndrome can mimic many common neurodegenerative disorders such as Parkinson's disease (PD),multiple system atrophy (MSA), Alzheimer disorders (AD), essential tremor (ET), and pure ataxia. Tremor is seen in 48-80% patients and variable in different studies and intention tremor is the most common pattern [1,2]. But it's very rare that FXTAS patients present with orthostatic tremor (OT).…”

Section: Introductionmentioning

confidence: 99%

A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS

et al. 2020

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Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset, X-linked genetic, neurodegenerative disorder caused by a "premutation (PM)" in the fragile X mental retardation 1 (FMR1) gene. Here we report a case of FXTAS from mainland of China who presented with rare orthostatic tremor. A review of tremor of FXTAS in the literature is also included. Case presentation: A 67-year-old right-handed farmer started with tremor of both legs 8 years ago which was present while standing but absent when sitting or lying and progressed with unsteady gait one and a half years ago. The brain MRI showed high intensity signal in the bilateral middle cerebellar peduncles (MCP) in T2-weighted and fluid-attenuated inversion recovery (FLAIR) images and gene test for premutation for FMR1 was positive with 101 CGG repeats. The patient met the the diagnosis of definite FXTAS. Clonazepam and topiramate were administered to control tremor. We reviewed the literature and identified 64 cases with detailed clinical and genetic information. Orthostatic tremor associated with FXTAS is very rare. We found 85.2% patients reported tremor,42.6% with intention tremor,36.1% with kinetic tremor,32.8% with rest tremor and 29.5% with posture tremor. 37.7% of patients who have tremor showed at least two types of tremor. There were 6 patients with isolated rest tremor. There was 2 patient with voice tremor and 6 with head tremor. We also found that 74.6% FXTAS patients had family history of FMR1 gene associated diseases including Fragile X syndrome (FXS), FXTAS or fragile X-associated primary ovarian insufficiency (FXPOI). Conclusions: Adding our data to the available literature suggests that orthostatic tremor could be a rare initial manifestation of FXTAS and the review will increasing our understanding the phenotype of tremor in FXTAS. Family history of FMR1 gene associated diseases might be an important clue to the diagnosis.

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A Japanese Case of Fragile-X-Associated Tremor/ataxia Syndrome (FXTAS)

Abstract: Abstract

Cited by 10 publications

References 22 publications

X-linked disorders with cerebellar dysgenesis

X-linked disorders with cerebellar dysgenesis

A Patient with Fragile X-Associated Tremor/Ataxia Syndrome Presenting with Executive Cognitive Deficits and Cerebral White Matter Lesions

A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS

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