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

Fragile X associated tremor/ataxia syndrome (FXTAS) is a recently identified neurodegenerative disorder affecting older adult males with pre-mutation alleles of the fragile X mental retardation 1 (FMR1) gene. 1- 3 These male carriers, in their fifties and older, develop progressive intention tremor,...

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Bibliographic Details
Published in:Journal of medical genetics 2005-02, Vol.42 (2), p.e14-e14
Main Authors: 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
Format: Article
Language:English
Subjects:
activation ratio
Adult
Age
Aged
Ataxia
Biopsy
Brain - pathology
Cerebellar Ataxia - diagnosis
Cerebellar Ataxia - genetics
Female
Fragile X Mental Retardation Protein - genetics
Fragile X Syndrome - diagnosis
Fragile X Syndrome - genetics
FXTAS
Genetic Carrier Screening
Humans
Intellectual disabilities
Magnetic Resonance Imaging
Male
Medical imaging
Mutation
NMR
Nuclear magnetic resonance
Online Mutation Report
Paraparesis, Spastic - diagnosis
Paraparesis, Spastic - genetics
Pedigree
premutation
spastic paraparesis
Studies
Tremor - diagnosis
Tremor - genetics
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Description
Summary:Fragile X associated tremor/ataxia syndrome (FXTAS) is a recently identified neurodegenerative disorder affecting older adult males with pre-mutation alleles of the fragile X mental retardation 1 (FMR1) gene. 1- 3 These male carriers, in their fifties and older, develop progressive intention tremor, cerebellar ataxia, progressive cognitive difficulties, and variable features including peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. (AR=1 indicates a normal allele active in 100% of the cells, while an AR=0 indicates that the normal allele is always carried on the inactive X chromosome). Because their mother (I-3) is a carrier of normal alleles (30, 30), all sisters inherited the pre-mutation from their father (I-2).
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2004.024190