The fragile X premutation presenting as essential tremor

Détails

ID Serval
serval:BIB_2D4C7DB12FF6
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
The fragile X premutation presenting as essential tremor
Périodique
Archives of Neurology
Auteur⸱e⸱s
Leehey  M. A., Munhoz  R. P., Lang  A. E., Brunberg  J. A., Grigsby  J., Greco  C., Jacquemont  S., Tassone  F., Lozano  A. M., Hagerman  P. J., Hagerman  R. J.
ISSN
0003-9942
Statut éditorial
Publié
Date de publication
01/2003
Peer-reviewed
Oui
Volume
60
Numéro
1
Pages
117-21
Notes
Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S. --- Old month value: Jan
Résumé
CONTEXT: The fragile X premutation has recently been reported to be associated with a neurodegenerative syndrome, chiefly characterized by intention tremor, gait ataxia, and executive cognitive deficits in men older than 50 years. Essential tremor is a frequent cause of tremor in elderly patients and in some cases is associated with impaired tandem gait and cognitive deficits. OBJECTIVE: To describe 2 fragile X carriers whose clinical presentation mimicked essential tremor. DESIGN: The 2 patients described herein underwent neurologic examinations by experienced movement disorders neurologists, magnetic resonance imaging, and fragile X gene, messenger RNA, and protein analyses. One underwent detailed neuropsychological testing. SETTING: Patients were studied at 2 large university movement disorders clinics. PATIENTS: Both patients were white men older than 50 years who had been diagnosed as having essential tremor and then found to be fragile X carriers. RESULTS: Besides disabling intention tremor, the 2 patients had impaired tandem, generalized brain atrophy, and unusual bilateral T2 middle cerebellar hyperintensities on magnetic resonance imaging. The patient who underwent neuropsychological testing had frontal executive deficits. Both patients had elevated fragile X mental retardation gene 1 messenger RNA and reduced fragile X mental retardation 1 protein levels. CONCLUSION: The fragile X carrier state may underlie the clinical findings in some older men diagnosed as having essential tremor.
Mots-clé
Aged Brain/pathology Diagnosis, Differential Fragile X Syndrome/*complications/*pathology Heterozygote Humans Magnetic Resonance Imaging Male Middle Aged Tremor/*etiology/*pathology
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/02/2008 11:42
Dernière modification de la notice
20/08/2019 14:12
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