Abstract
Individuals carrying an FMR1 expansion between 55 and 200 CGG repeats, are at risk of developing the Fragile X-associated tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by cerebellar gait ataxia, intentional tremor, neuropathy, parkinsonism, cognitive decline, and psychological disorders, such as anxiety and depression. In addition, brain atrophy, white matter disease, and hyperintensities of the middle cerebellar peduncles can also be present. The neuropathological distinct feature of FXTAS is represented by the presence of eosinophilic intranuclear inclusions in neurons and astrocytes throughout the brain and in other tissues. In this chapter, protocols for available diagnostic tools, in both humans and mice, the clinical features and the basic molecular mechanisms leading to FXTAS and the animal models proposed to study this disorder are discussed.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 173-189 |
| Number of pages | 17 |
| Journal | Methods in molecular biology (Clifton, N.J.) |
| Volume | 1942 |
| DOIs | |
| State | Published - Jan 1 2019 |
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Keywords
- Ataxia
- FMR1
- FMRP
- FXTAS
- qRT-PCR
- TP-PCR
- Tremor
ASJC Scopus subject areas
- Molecular Biology
- Genetics
Cite this
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). / Zafarullah, Marwa; Tassone, Flora.
In: Methods in molecular biology (Clifton, N.J.), Vol. 1942, 01.01.2019, p. 173-189.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
AU - Zafarullah, Marwa
AU - Tassone, Flora
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Individuals carrying an FMR1 expansion between 55 and 200 CGG repeats, are at risk of developing the Fragile X-associated tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by cerebellar gait ataxia, intentional tremor, neuropathy, parkinsonism, cognitive decline, and psychological disorders, such as anxiety and depression. In addition, brain atrophy, white matter disease, and hyperintensities of the middle cerebellar peduncles can also be present. The neuropathological distinct feature of FXTAS is represented by the presence of eosinophilic intranuclear inclusions in neurons and astrocytes throughout the brain and in other tissues. In this chapter, protocols for available diagnostic tools, in both humans and mice, the clinical features and the basic molecular mechanisms leading to FXTAS and the animal models proposed to study this disorder are discussed.
AB - Individuals carrying an FMR1 expansion between 55 and 200 CGG repeats, are at risk of developing the Fragile X-associated tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by cerebellar gait ataxia, intentional tremor, neuropathy, parkinsonism, cognitive decline, and psychological disorders, such as anxiety and depression. In addition, brain atrophy, white matter disease, and hyperintensities of the middle cerebellar peduncles can also be present. The neuropathological distinct feature of FXTAS is represented by the presence of eosinophilic intranuclear inclusions in neurons and astrocytes throughout the brain and in other tissues. In this chapter, protocols for available diagnostic tools, in both humans and mice, the clinical features and the basic molecular mechanisms leading to FXTAS and the animal models proposed to study this disorder are discussed.
KW - Ataxia
KW - FMR1
KW - FMRP
KW - FXTAS
KW - qRT-PCR
KW - TP-PCR
KW - Tremor
UR - http://www.scopus.com/inward/record.url?scp=85063611538&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85063611538&partnerID=8YFLogxK
U2 - 10.1007/978-1-4939-9080-1_15
DO - 10.1007/978-1-4939-9080-1_15
M3 - Article
VL - 1942
SP - 173
EP - 189
JO - Methods in molecular biology (Clifton, N.J.)
JF - Methods in molecular biology (Clifton, N.J.)
SN - 1064-3745
ER -