Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

Details

Serval ID
serval:BIB_AB1533CD42DD
Type
Article: article from journal or magazin.
Collection
Publications
Title
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
Journal
American Journal of Human Genetics
Author(s)
Jacquemont  S., Hagerman  R. J., Leehey  M., Grigsby  J., Zhang  L., Brunberg  J. A., Greco  C., Des Portes  V., Jardini  T., Levine  R., Berry-Kravis  E., Brown  W. T., Schaeffer  S., Kissel  J., Tassone  F., Hagerman  P. J.
ISSN
0002-9297
Publication state
Published
Issued date
04/2003
Peer-reviewed
Oui
Volume
72
Number
4
Pages
869-78
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Apr
Abstract
We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetrical regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter are thought to be highly sensitive for this neurologic condition, and their presence is the radiological inclusion criterion for this series. Molecular findings include elevated mRNA and low-normal or mildly decreased levels of fragile X mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders.
Keywords
Aged Ataxia/genetics Brain/pathology Brain Mapping Cerebellum/*pathology Educational Status Ethnic Groups Fragile X Mental Retardation Protein Fragile X Syndrome/*genetics/pathology Heterozygote Detection Humans Magnetic Resonance Imaging Male Middle Aged Mutation Nerve Tissue Proteins/genetics Patient Selection RNA, Messenger/genetics *RNA-Binding Proteins Tremor/genetics
Pubmed
Web of science
Open Access
Yes
Create date
28/02/2008 10:42
Last modification date
20/08/2019 15:15
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