Screening for the Presence of FMR1 Premutation Alleles in Women With Parkinsonism
Open Access
- 1 February 2009
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 66 (2) , 244-249
- https://doi.org/10.1001/archneurol.2008.548
Abstract
Fragile X−associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with a CGG trinucleotide repeat expansion in the fragile X mental retardation 1 gene (FMR1) (309550) within the premutation range (55-200 CGG repeats; normal, 1-3Keywords
This publication has 19 references indexed in Scilit:
- The fragile X prevalence paradoxJournal of Medical Genetics, 2008
- Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelinesMovement Disorders, 2007
- Neuropathic features in fragile X premutation carriersAmerican Journal of Medical Genetics Part A, 2006
- Fragile X–associated tremor/ataxia syndrome in sisters related to X‐inactivationAnnals of Neurology, 2004
- Penetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier PopulationJAMA, 2004
- Aging in Individuals With the FMR1 MutationAmerican Journal on Mental Retardation, 2004
- Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging CorrelatesAmerican Journal of Human Genetics, 2003
- The Fragile X Premutation Presenting as Essential TremorArchives of Neurology, 2003
- Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome allelesHuman Molecular Genetics, 2002
- Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile XNeurology, 2001