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Case report: Dystonia in a fragile X carrier
Author(s) -
Zhang Lin,
Sukharev Dina,
Schneider Andrea,
Olichney John M.,
Seritan Andreea,
Hagerman Randi J.
Publication year - 2014
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23600
Subject(s) - dystonia , fragile x , content (measure theory) , computer science , psychology , information retrieval , physical medicine and rehabilitation , medicine , neuroscience , biology , mathematics , genetics , gene , mathematical analysis
The Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that can affect both male and female carriers of a premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. It is presumed to be caused by elevated FMR1-mRNA leading to toxicity. Clinical features of FXTAS include progressive cerebellar ataxia and intention tremor [1]. Associated symptoms are peripheral neuropathy, cognitive impairment and dementia [2]. MRI findings of brain atrophy and white matter disease are present in almost all cases but involvement of the middle cerebellar peduncles occurs in 59% of males and 13% of females affected by FXTAS [3]. Oromandibular dystonia (OMD), on the other hand, is a variant of focal dystonia that affects women more often then men with the age of onset between 31-58 years [4]. In this report, we present a patient with the premutation, symptoms of early FXTAS and severe OMD.