Neurological signs in the adult with fragile-X premutation
نویسندگان
چکیده
منابع مشابه
The fragile-X premutation: a maturing perspective.
Carriers of premutation alleles (55-200 CGG repeats) of the fragile-X mental retardation 1 (FMR1) gene are often regarded as being clinically uninvolved. However, it is now apparent that such individuals can present with one (or more) of three distinct clinical disorders: mild cognitive and/or behavioral deficits on the fragile-X spectrum; premature ovarian failure; and a newly described, neuro...
متن کاملAmygdala dysfunction in men with the fragile X premutation.
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS, and perhaps the other clinical presentations among carriers, are thought to be due to toxic gain-of-function of elevated lev...
متن کاملPsychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome.
Several studies have demonstrated increased rates of anxiety and depressive disorders among female carriers of the fragile X premutation. However, the majority of these studies focused on mothers of children with fragile X syndrome, who experience higher rates of parenting stress that may contribute to the emergence of these disorders. The present study compared psychiatric symptom presentation...
متن کاملEarly onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins.
We present four cases of fragile X premutation carriers with early neurological symptoms, including symptoms consistent with multiple sclerosis (MS) and fragile X-associated tremor/ataxia syndrome (FXTAS). Each patient had significant exposure to one or more environmental neurotoxicants that have documented neurotoxicity (i.e. hexachlorocyclopentadiene or C56, Agent Orange, and 2,4- or 2,6-tolu...
متن کاملFragile X premutation with atypical symptoms at onset.
OBJECTIVE To evaluate the presence of carriers of the fragile X premutation among male patients with sporadic ataxia without expansion into known spinocerebellar ataxia genes. DESIGN Clinical and genetic examinations were performed on patients with sporadic pure ataxia and patients with ataxia associated with extracerebellar features such as pyramidal and extrapyramidal signs, dementia, or pe...
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ژورنال
عنوان ژورنال: Neurología (English Edition)
سال: 2010
ISSN: 2173-5808
DOI: 10.1016/s2173-5808(10)70045-6