Fragile X Tremor Ataxia syndrome

Diagnosis:

Genetic testing: expansion of CGG repeat on FMR1 gene on chr. X.
55-200 repeats = premutation range, associated with tremor/ataxia syndrome and premature ovarian failure
>200 repeats = Fragile X syndrome

Findings on investigations:

MRI: T2 white matter hyperintensities in the middle cerebellar peduncles or brain stem. Cereberal white matter hyperintensities and atrophy may occur.

Pathology:

In white matter enlarged astrocytes with inclusions. Inclusion bodies in neurons and astrocytes occur in the CNS and in autonomic neurons.

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