Abstract
In 2002, a syndrome of tremor, ataxia, cognitive decline, and the presence of unique ubiquitin staining intranuclear inclusions in the brain was discovered in premutation males carrying an expansion of between 55 and 200 CGG trinucleotide repeats on the FMR1 gene. This clinical syndrome is now known as fragile X-associated tremor/ataxia (FXTAS) and has been found in both male and female carriers of the expanded premutation allele. The goal of this chapter is to summarize what is known about the anatomical pathology associated with the fragile X premutation and particularly in those individuals with FXTAS. Neuropathology in FXTAS was initially found in the central nervous system, but recent evidence has demonstrated pathological features, including intranuclear inclusions, in the peripheral nervous system, the enteric nervous system, and the neuroendocrine system. The precise cellular dysfunctions that underlie these pathologic features are currently under intense investigation with the goal of prevention and treatment of this devastating disorder.
| Original language | English (US) |
|---|---|
| Title of host publication | FXTAS, FXPOI, and Other Premutation Disorders |
| Publisher | Springer International Publishing |
| Pages | 87-100 |
| Number of pages | 14 |
| ISBN (Electronic) | 9783319338989 |
| ISBN (Print) | 9783319338965 |
| DOIs | |
| State | Published - Jan 1 2016 |
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Keywords
- Intranuclear inclusions
- MPC signs
- Parkinson’s disease
- RNA toxicity
- White matter disease
ASJC Scopus subject areas
- Medicine(all)
- Biochemistry, Genetics and Molecular Biology(all)
- Neuroscience(all)
Cite this
The pathology of FXTAS. / Martinez-Cerdeno, Veronica; Greco, Claudia.
FXTAS, FXPOI, and Other Premutation Disorders. Springer International Publishing, 2016. p. 87-100.Research output: Chapter in Book/Report/Conference proceeding › Chapter
}
TY - CHAP
T1 - The pathology of FXTAS
AU - Martinez-Cerdeno, Veronica
AU - Greco, Claudia
PY - 2016/1/1
Y1 - 2016/1/1
N2 - In 2002, a syndrome of tremor, ataxia, cognitive decline, and the presence of unique ubiquitin staining intranuclear inclusions in the brain was discovered in premutation males carrying an expansion of between 55 and 200 CGG trinucleotide repeats on the FMR1 gene. This clinical syndrome is now known as fragile X-associated tremor/ataxia (FXTAS) and has been found in both male and female carriers of the expanded premutation allele. The goal of this chapter is to summarize what is known about the anatomical pathology associated with the fragile X premutation and particularly in those individuals with FXTAS. Neuropathology in FXTAS was initially found in the central nervous system, but recent evidence has demonstrated pathological features, including intranuclear inclusions, in the peripheral nervous system, the enteric nervous system, and the neuroendocrine system. The precise cellular dysfunctions that underlie these pathologic features are currently under intense investigation with the goal of prevention and treatment of this devastating disorder.
AB - In 2002, a syndrome of tremor, ataxia, cognitive decline, and the presence of unique ubiquitin staining intranuclear inclusions in the brain was discovered in premutation males carrying an expansion of between 55 and 200 CGG trinucleotide repeats on the FMR1 gene. This clinical syndrome is now known as fragile X-associated tremor/ataxia (FXTAS) and has been found in both male and female carriers of the expanded premutation allele. The goal of this chapter is to summarize what is known about the anatomical pathology associated with the fragile X premutation and particularly in those individuals with FXTAS. Neuropathology in FXTAS was initially found in the central nervous system, but recent evidence has demonstrated pathological features, including intranuclear inclusions, in the peripheral nervous system, the enteric nervous system, and the neuroendocrine system. The precise cellular dysfunctions that underlie these pathologic features are currently under intense investigation with the goal of prevention and treatment of this devastating disorder.
KW - Intranuclear inclusions
KW - MPC signs
KW - Parkinson’s disease
KW - RNA toxicity
KW - White matter disease
UR - http://www.scopus.com/inward/record.url?scp=85018887073&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85018887073&partnerID=8YFLogxK
U2 - 10.1007/978-3-319-33898-9_5
DO - 10.1007/978-3-319-33898-9_5
M3 - Chapter
AN - SCOPUS:85018887073
SN - 9783319338965
SP - 87
EP - 100
BT - FXTAS, FXPOI, and Other Premutation Disorders
PB - Springer International Publishing
ER -