Emerging topics in FXTAS

Table 2 Revised fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype

System affected	Symptoms and signs	Reference
Motor
	Action tremor	[1, 3]
	Cerebellar gait ataxia	[1, 3]
	Parkinsonism	[1, 3]
	Reflex myoclonus	[11]
Cognitive
	Executive dysfunction	[12]
	Dementia	[13]
Autonomic
	Urinary dysfunction	[3]
	Erectile dysfunction	[3]
	Constipation/fecal incontinence	[12]
	Orthostatic hypotension	[14]
Psychiatric
	Depression	[15–17]
	Anxiety	[15, 17]
	Irritability, agitation, apathy	[16]
Other CNS, medical
	Impaired olfaction	[8]
	Hearing loss	[8]
	Hypertension	[18, 19]
	Sleep apnea	[20]
Peripheral nervous system
	Length dependent neuropathy	[3]
	Non-length dependent sensory neuropathy	[4, 8, 21–28]
Females^a
	Muscle pain/fibromyalgia	[19, 29]
	Hypothyroidism	[19]
Radiography
	MRI T2 hyperintensities in the middle cerebellar peduncles (MCP sign) or brainstem	[4, 30]
	MRI T2 hyperintensities in the splenium of the corpus callosum	[31]
	MRI white matter lesions in the cerebrum	[4, 30]
	Moderate to severe generalized atrophy	[4, 30]
	Corpus callosum atrophy	[4]
	Cerebellar atrophy	[4]

^aAdditional signs that are typical findings in females, much more so than males. CNS, central nervous system; MRI, magnetic resonance imaging.

ISSN: 1866-1955