Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): Clinical Phenotype, Diagnosis and Treatment
Identifieur interne : 000239 ( Ncbi/Merge ); précédent : 000238; suivant : 000240Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): Clinical Phenotype, Diagnosis and Treatment
Auteurs : Maureen LeeheySource :
- Journal of investigative medicine : the official publication of the American Federation for Clinical Research [ 1081-5589 ] ; 2009.
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG repeat expansion in the premutation range (55-200) in the fragile X mental retardation 1 gene. Onset is typically in the early seventh decade and men are principally affected. The major signs are cerebellar gait ataxia, intention tremor, frontal executive dysfunction, and global brain atrophy. Other frequent findings are parkinsonism (mild), peripheral neuropathy, psychiatric symptoms (depression, anxiety, agitation), and autonomic dysfunction. The clinical presentation is heterogeneous, with individuals presenting with varied dominating signs, such as tremor, dementia or neuropathy. MR imaging shows atrophy and patchy white matter lesions in the cerebral hemispheres and middle cerebellar peduncles. The latter has been designated the ‘MCP sign’, occurs in about 60% of affected men, and is relatively specific for FXTAS. Affected females generally have less severe disease, less cognitive decline, and some symptoms different from that of men, e.g., muscle pain. Management of FXTAS is complex and includes assessment of the patient's neurological and medical deficits, treatment of symptoms, and provision of relevant referrals, especially genetic counseling. Treatment is empiric, based on anecdotal experience and on knowledge of what works for symptoms of other disorders that also exist in FXTAS. Presently the disorder is under-recognized, since the first published report was in 2001, and since the presentation is variable and mainly consists of a combination of signs common in the elderly. However, accurate diagnosis is critical, for the patient and for the family, as they need education regarding their genetic and health risks.
Url:
DOI: 10.231/JIM.0b013e3181af59c4
PubMed: 19574929
PubMed Central: 2787702
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<front><div type="abstract" xml:lang="en"><p id="P1">Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG repeat expansion in the premutation range (55-200) in the fragile X mental retardation 1 gene. Onset is typically in the early seventh decade and men are principally affected. The major signs are cerebellar gait ataxia, intention tremor, frontal executive dysfunction, and global brain atrophy. Other frequent findings are parkinsonism (mild), peripheral neuropathy, psychiatric symptoms (depression, anxiety, agitation), and autonomic dysfunction. The clinical presentation is heterogeneous, with individuals presenting with varied dominating signs, such as tremor, dementia or neuropathy. MR imaging shows atrophy and patchy white matter lesions in the cerebral hemispheres and middle cerebellar peduncles. The latter has been designated the ‘MCP sign’, occurs in about 60% of affected men, and is relatively specific for FXTAS. Affected females generally have less severe disease, less cognitive decline, and some symptoms different from that of men, e.g., muscle pain. Management of FXTAS is complex and includes assessment of the patient's neurological and medical deficits, treatment of symptoms, and provision of relevant referrals, especially genetic counseling. Treatment is empiric, based on anecdotal experience and on knowledge of what works for symptoms of other disorders that also exist in FXTAS. Presently the disorder is under-recognized, since the first published report was in 2001, and since the presentation is variable and mainly consists of a combination of signs common in the elderly. However, accurate diagnosis is critical, for the patient and for the family, as they need education regarding their genetic and health risks.</p>
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<degrees>M.D.</degrees>
<aff id="A1">Professor of Neurology, University of Colorado Denver, Aurora, CO</aff>
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<author-notes><corresp id="FN1">Corresponding author: Maureen A. Leehey, M.D., 12631 East 17<sup>th</sup>
Avenue, AO1 Bldg, Box B185, Aurora, CO 80045, 303-724-2194 phone, 303-724-2212 fax, <email>Maureen.leehey@ucdenver.edu</email>
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<volume>57</volume>
<issue>8</issue>
<fpage>830</fpage>
<lpage>836</lpage>
<abstract><p id="P1">Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG repeat expansion in the premutation range (55-200) in the fragile X mental retardation 1 gene. Onset is typically in the early seventh decade and men are principally affected. The major signs are cerebellar gait ataxia, intention tremor, frontal executive dysfunction, and global brain atrophy. Other frequent findings are parkinsonism (mild), peripheral neuropathy, psychiatric symptoms (depression, anxiety, agitation), and autonomic dysfunction. The clinical presentation is heterogeneous, with individuals presenting with varied dominating signs, such as tremor, dementia or neuropathy. MR imaging shows atrophy and patchy white matter lesions in the cerebral hemispheres and middle cerebellar peduncles. The latter has been designated the ‘MCP sign’, occurs in about 60% of affected men, and is relatively specific for FXTAS. Affected females generally have less severe disease, less cognitive decline, and some symptoms different from that of men, e.g., muscle pain. Management of FXTAS is complex and includes assessment of the patient's neurological and medical deficits, treatment of symptoms, and provision of relevant referrals, especially genetic counseling. Treatment is empiric, based on anecdotal experience and on knowledge of what works for symptoms of other disorders that also exist in FXTAS. Presently the disorder is under-recognized, since the first published report was in 2001, and since the presentation is variable and mainly consists of a combination of signs common in the elderly. However, accurate diagnosis is critical, for the patient and for the family, as they need education regarding their genetic and health risks.</p>
</abstract>
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