Parkinsonism is a condition observed in several neurogenic diseases and is a variable symptom of fragile X-associated tremor/ataxia syndrome (FXTAS; OMIM # 300623), a late-onset disorder caused by premutation (PM) alleles in the FMR1 gene (5),(6). FXTAS affects approximately 8–16% and nearly 40% of older female and male carriers of PM alleles, respectively (7, 8). It has been suggested that some patients with multiple-system atrophy or PD could also be carriers of the genetic expansion …show more content…
Neurological signs fall into 2 groups, major and minor. Major symptoms include white matter lesions in MRI scans in the middle cerebellar peduncles and/or brain stem with the contributing clinical signs of intention tremor and gait ataxia. Minor neurological signs include the same lesions in the cerebral white matter and moderate to general atrophy. The contributing clinical signs are moderate to severe deficits in working memory, Parkinsonism and failure of executive cognitive function (11).
In female patients, a varying degree of protection is observed, which is provided by the expression of the FMR1 gene from the normal X chromosome in a fraction of cells. This phenomenon usually results in less progressive, milder neurological symptoms in females than in males