1. Fragile X-associated tremor/ataxia syndrome: Intrafamilial variability and the size of theFMR1 premutation CGG repeat
- Author
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Claudia da Costa Leite, Fernando Kok, Egberto Reis Barbosa, Leonardo Pires Capelli, Ricardo Nitrini, Márcia Rúbia Rodrigues Gonçalves, and Angela Maria Vianna-Morgante
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Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Cerebellum ,Pediatrics ,medicine.medical_specialty ,Ataxia ,Neurological disorder ,Central nervous system disease ,Fragile X Mental Retardation Protein ,Trinucleotide Repeats ,medicine ,Humans ,Family ,Allele ,Aged ,Genetics ,Interleukin-6 ,business.industry ,Siblings ,Interleukin-8 ,medicine.disease ,FMR1 ,Pedigree ,nervous system diseases ,Fragile X syndrome ,medicine.anatomical_structure ,Neurology ,Fragile X Syndrome ,Female ,Interleukin-4 ,Neurology (clinical) ,Interleukin-5 ,medicine.symptom ,business ,Fragile X-associated tremor/ataxia syndrome - Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)(123,) (CGG)(109), and (CGG)(91) triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a "definite" diagnosis of FXTAS in the two carriers of the longest (CGG)(n). The carrier of the (CGG)(91) allele, although presenting a major radiological sign of the syndrome (symmetrical white-matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age.
- Published
- 2007
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