Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
Détails
ID Serval
serval:BIB_AB1533CD42DD
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
Périodique
American Journal of Human Genetics
ISSN
0002-9297
Statut éditorial
Publié
Date de publication
04/2003
Peer-reviewed
Oui
Volume
72
Numéro
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
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Apr
Résumé
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.
Mots-clé
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
Oui
Création de la notice
28/02/2008 11:42
Dernière modification de la notice
20/08/2019 16:15