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World J Neurol. Dec 28, 2013; 3(4): 148-151
Published online Dec 28, 2013. doi: 10.5316/wjn.v3.i4.148
Published online Dec 28, 2013. doi: 10.5316/wjn.v3.i4.148
Atypical neurological symptoms associated with CGG expansions of the FMR1 gene
Esteban Peña, Marcos Llanero, Department of Neurology, Hospital Sanitas La Moraleja, 28050 Madrid, Spain
Author contributions: Peña E contributed to writing and reviewing the manuscript; Llanero M contributed to neuropsychological assessment and reviewing the manuscript.
Correspondence to: Esteban Peña, MD, Department of Neurology, Hospital Sanitas La Moraleja, Avenida Francisco Pi y Margall no 81, 28050 Madrid, Spain. epenal.pex@sanitas.es
Telephone: +34-917-679100 Fax: +34-917-679346
Received: June 21, 2013
Revised: September 16, 2013
Accepted: October 11, 2013
Published online: December 28, 2013
Revised: September 16, 2013
Accepted: October 11, 2013
Published online: December 28, 2013
Core Tip
Core tip: In this study we report two atypical cases associated with CGG expansions of the fragile X mental retardation 1 (FMR1) gene. First, a FMR1 premutation alleles carrier presented with a parkinsonism indistinguishable from Parkinson disease. Second, a FMR1 gray zone alleles carrier presented with orthostatic tremor and neurological features associated with the fragile X-associated tremor/ataxia syndrome, such as hand tremor, parkinsonism and ataxia.