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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. [ 4 ] [ 5 ] The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor .
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
The first trinucleotide repeat disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. Patients carry from 230 to 4000 CGG repeats in the gene that causes fragile X syndrome, while unaffected individuals have up to 50 repeats and carriers of the disease have 60 to 230 repeats.
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...
Silencing of the FMR1 gene in Fragile X syndrome. FMR1 co-localizes with a rare fragile site, visible here as a gap on the long arms of the X chromosome.. A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break [1] when the cell is exposed to partial replication stress. [2]
The cause of the condition lies in conception or utero with the aggregation of two distinct zygotes or blastocysts (one of which expresses 46,XX and the other of which expresses 46,XY) into a single embryo, [4] which subsequently leads to the development of a single individual with two distinct cell lines, instead of a pair of fraternal twins.
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Fragile X-associated primary ovarian insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46,XX. [1] The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. [2]
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