Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

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Serval ID
serval:BIB_ED9C1F4F42A5
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Production externe
Title
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?
Journal
Journal of Medical Genetics
Author(s)
Jacquemont  S., Orrico  A., Galli  L., Sahota  P. K., Brunberg  J. A., Anichini  C., Leehey  M., Schaeffer  S., Hagerman  R. J., Hagerman  P. J., Tassone  F.
ISSN
1468-6244
Publication state
Published
Issued date
02/2005
Peer-reviewed
Oui
Volume
42
Number
2
Pages
e14
Notes
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Feb
Keywords
Adult Aged Brain/pathology Cerebellar Ataxia/*diagnosis/genetics Female Fragile X Mental Retardation Protein/genetics Fragile X Syndrome/*diagnosis/genetics Heterozygote Detection Humans Magnetic Resonance Imaging Male Paraparesis, Spastic/*diagnosis/genetics Pedigree Tremor/*diagnosis/genetics
DOI
10.1136/jmg.2004.024190
Pubmed
15689437
Web of science
000226748100024
Create date
28/02/2008 10:42
Last modification date
20/08/2019 16:15
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