Aging in Individuals With the FMR1 Mutation
| Autor: | Jim Grigsby, Lin Zhang, Foster Lewin, Elizabeth Berry-Kravis, Faraz Farzin, Maureen A. Leehey, Paul J. Hagerman, Tristan Jardini, Louise W. Gane, Randi J Hagerman, Sébastien Jacquemont, Flora Tassone, Deborah A. Hall |
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| Jazyk: | angličtina |
| Rok vydání: | 2004 |
| Předmět: |
Senescence
Male medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Aging Ataxia Health Status Genetic Counseling Nerve Tissue Proteins Article Education Fragile X Mental Retardation Protein Internal medicine Developmental and Educational Psychology medicine Humans Point Mutation Resting tremor Psychiatry Aged Rehabilitation Brain RNA-Binding Proteins Middle Aged medicine.disease FMR1 Magnetic Resonance Imaging nervous system diseases Fragile X syndrome Developmental disorder Endocrinology Fragile X Syndrome General Health Professions Intention tremor medicine.symptom Psychology Cognition Disorders Fragile X-associated tremor/ataxia syndrome |
| Popis: | Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia manifested by balance problems, frequent falling, and Parkinsonian symptoms, such as masked facies, intermittent resting tremor, and mild rigidity. This finding has been termed the fragile X-associated tremor/ataxia syndrome (FXTAS) and has brought focus to the aging process in individuals with the FMR1 mutation. The premutation is associated with elevated messenger RNA levels leading to the formation of intranuclear inclusions in neurons and astrocytes associated with FXTAS. This review is a summary of our experience with FXTAS in male carriers of the premutation. |
| Databáze: | OpenAIRE |
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