Since the main focus of this study has been on the relationships of cellular respiration and signalling measures (such as AMPK and TORC1) in blood lymphoblasts with motor and neuropsychiatric changes in the affected PM carriers, we first evaluated cellular functioning in the FXTAS subgroup, compared with non-FXTAS carriers and healthy controls. Here, PRKAA1 is linked to fragile X-associated tremor/ataxia syndrome.