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Fig. 1 | BMC Neurology

Fig. 1

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

Fig. 1

a: Brain MRI of the patient showed symmetric T2 hyperintensity in bilateral medipeduncle (MCP sign,red arrow); b:showed abnormal FLAIR intensity in periventricular white matter area and corpus callosum (red arrow); c:Pedigree of the case. II1 was the patient with FXTAS. III 3 was his younger daughter who stopped the menstruation at her 30s.IV2 was the son of his youngest daughter and had autism and attention deficit hyperactivity disorder (ADHD). But III 3 and IV2 denied the gene test; d: Results of CGG repeat PCR of FMR1. The X⁃coordinate represents the fragment size and the Y⁃coordinate is the peak height. The fragment size of this patient is 556 bp, corresponding peak height is 396 bp, and other peaks are the reference materials for detection. e: Linear regression graph between CGG repeat numbers and main peak length. The intersection of yellow lines indicates the fragment size of this patient is 556 bp and the number of CGG repeats is 101

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BMC Neurology

ISSN: 1471-2377

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