Late Onset Tremor and Ataxia Syndrome: FXTAS and its Ignored Peripheral Nervous System Findings in Diagnostic Criteria.

Abstract

We report a typical fragile X-associated tremor/ataxia syndrome (FXTAS) case with the consent of the patient. A 68-year-old man presented to our clinic with a 12-year history of progressive gait ataxia and bilateral hand tremor. The patient also experienced problems with impotence, occasional episodes of diarrhea/constipation, and lightheadedness. His family history revealed that his sister and her daughter had a history of premature ovarian failure, and his neurological examination revealed bradymimia, bilateral mild postural and action tremor with terminal dysmetria, and ataxic widebased gait. Both loss of distal reflexes and reduction in vibratory sense were observed. A detailed neurocognitive evaluation revealed mild frontal-type dysfunction. His cranial MRI showed generalized cerebral atrophy and increased T2 signal intensity in bilateral middle cerebellar peduncles and lateral periventricular areas (Figure 1). Nerve conduction studies showed motor and sensory demyelinating polyneuropathy in his lower extremities (Figure 2). His heart rate variability test revealed autonomic system involvement toward parasympathetic activity, and his genetic test revealed expanded CGG repeat above 60 within the premutation range (55–200) in the fragile X mental retardation 1 (FMR1) gene.