Abstract
Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). Affected FMR1 premutation carriers also have parkinsonism, but have not been reported to meet criteria for Parkinson disease. This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies, it is likely that the genetic mutation and parkinsonism are associated. Although screening all PD patients is likely to be low yield, genetic testing of FMR1 in individuals with PD and a family history of fragile X syndrome, autism or developmental delay, or other related FMR1 phenotypes is warranted.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 156-159 |
| Number of pages | 4 |
| Journal | Parkinsonism and Related Disorders |
| Volume | 15 |
| Issue number | 2 |
| DOIs | |
| State | Published - Feb 2009 |
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Keywords
- Fragile X associated tremor/ataxia syndrome
- Fragile X mental retardation gene
- Parkinson disease
- Parkinsonism
ASJC Scopus subject areas
- Geriatrics and Gerontology
- Clinical Neurology
- Neurology
Cite this
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. / Hall, Deborah A.; Howard, Katherine; Hagerman, Randi J; Leehey, Maureen A.
In: Parkinsonism and Related Disorders, Vol. 15, No. 2, 02.2009, p. 156-159.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease
AU - Hall, Deborah A.
AU - Howard, Katherine
AU - Hagerman, Randi J
AU - Leehey, Maureen A.
PY - 2009/2
Y1 - 2009/2
N2 - Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). Affected FMR1 premutation carriers also have parkinsonism, but have not been reported to meet criteria for Parkinson disease. This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies, it is likely that the genetic mutation and parkinsonism are associated. Although screening all PD patients is likely to be low yield, genetic testing of FMR1 in individuals with PD and a family history of fragile X syndrome, autism or developmental delay, or other related FMR1 phenotypes is warranted.
AB - Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). Affected FMR1 premutation carriers also have parkinsonism, but have not been reported to meet criteria for Parkinson disease. This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies, it is likely that the genetic mutation and parkinsonism are associated. Although screening all PD patients is likely to be low yield, genetic testing of FMR1 in individuals with PD and a family history of fragile X syndrome, autism or developmental delay, or other related FMR1 phenotypes is warranted.
KW - Fragile X associated tremor/ataxia syndrome
KW - Fragile X mental retardation gene
KW - Parkinson disease
KW - Parkinsonism
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UR - http://www.scopus.com/inward/citedby.url?scp=58349111158&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2008.04.037
DO - 10.1016/j.parkreldis.2008.04.037
M3 - Article
VL - 15
SP - 156
EP - 159
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
SN - 1353-8020
IS - 2
ER -