Abstract
The grey zone (GZ; 45-54 CGG repeats in the FMR1 gene) is considered a normal allele; however, several studies have found a high frequency of GZ in movement disordered populations. Here, we describe neurological features of fragile X-associated tremor/ataxia syndrome (FXTAS) in two carriers of GZ alleles, although FXTAS has been defined as occurring only in premutation carriers (55-200 CGG repeats). Both patients had family members who had premutation and were diagnosed with FXTAS. The presence of relatively high GZ alleles with elevated fragile X mental retardation 1 mRNA (FMR1-mRNA) combined with a family history of FXTAS that may represent a facilitating genetic background for FXTAS are the factors that led to the presence of FXTAS in these individuals with a GZ allele. Further research into clinical involvement of GZ alleles is recommended and the definition of FXTAS may require revision.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 74-77 |
| Number of pages | 4 |
| Journal | Clinical Genetics |
| Volume | 84 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jul 2013 |
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Keywords
- Ataxia
- FMR1-mRNA
- FXTAS
- Grey zone
- Premutation
- Tremor
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. / Liu, Y.; Winarni, Ti; Zhang, Lin; Tassone, Flora; Hagerman, Randi J.
In: Clinical Genetics, Vol. 84, No. 1, 07.2013, p. 74-77.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers
AU - Liu, Y.
AU - Winarni, Ti
AU - Zhang, Lin
AU - Tassone, Flora
AU - Hagerman, Randi J
PY - 2013/7
Y1 - 2013/7
N2 - The grey zone (GZ; 45-54 CGG repeats in the FMR1 gene) is considered a normal allele; however, several studies have found a high frequency of GZ in movement disordered populations. Here, we describe neurological features of fragile X-associated tremor/ataxia syndrome (FXTAS) in two carriers of GZ alleles, although FXTAS has been defined as occurring only in premutation carriers (55-200 CGG repeats). Both patients had family members who had premutation and were diagnosed with FXTAS. The presence of relatively high GZ alleles with elevated fragile X mental retardation 1 mRNA (FMR1-mRNA) combined with a family history of FXTAS that may represent a facilitating genetic background for FXTAS are the factors that led to the presence of FXTAS in these individuals with a GZ allele. Further research into clinical involvement of GZ alleles is recommended and the definition of FXTAS may require revision.
AB - The grey zone (GZ; 45-54 CGG repeats in the FMR1 gene) is considered a normal allele; however, several studies have found a high frequency of GZ in movement disordered populations. Here, we describe neurological features of fragile X-associated tremor/ataxia syndrome (FXTAS) in two carriers of GZ alleles, although FXTAS has been defined as occurring only in premutation carriers (55-200 CGG repeats). Both patients had family members who had premutation and were diagnosed with FXTAS. The presence of relatively high GZ alleles with elevated fragile X mental retardation 1 mRNA (FMR1-mRNA) combined with a family history of FXTAS that may represent a facilitating genetic background for FXTAS are the factors that led to the presence of FXTAS in these individuals with a GZ allele. Further research into clinical involvement of GZ alleles is recommended and the definition of FXTAS may require revision.
KW - Ataxia
KW - FMR1-mRNA
KW - FXTAS
KW - Grey zone
KW - Premutation
KW - Tremor
UR - http://www.scopus.com/inward/record.url?scp=84879794084&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84879794084&partnerID=8YFLogxK
U2 - 10.1111/cge.12026
DO - 10.1111/cge.12026
M3 - Article
C2 - 23009394
AN - SCOPUS:84879794084
VL - 84
SP - 74
EP - 77
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 1
ER -