Table 2.

Clinical characteristics and genetic analysis of six probands carrying mutations.

Proband no	Sex	Age at onset (years)	Age at present (years)	Predominant symptoms	MRI features	Gene	Variants
1	M	28	33	Cognitive impairment; changes in personality and behavior; unsteady gait; bladder and bowel dysfunction	Cerebellum vermis and callosal atrophy, WM abnormality in the periventricular and CC, restricted diffusion on DWI in the CC	AARS2	c.452T>C (p.M151T) c.2146‐2A>G
2	M	46	47	Rapid cognitive decline; behavioral symptoms; dysarthric; severe apraxia; rigidity; seizures; bladder and bowel dysfunction	WM abnormality involving the periventricular WM, CC, internal and external capsules	ABCD1	c.445_449del (p.S149Hfs*44)
3	M	47	53	Progressive bilateral lower extremity weakness; spasticity; bladder and bowel dysfunction	WM abnormalities in bilateral cerebellar hemispheres	ABCD1	c.1661G>A (p.R554H)
4	M	37	49	Seizures; vision impairment	MRI at age 37 years old: multiple confluent T2/FLAIR hyperintense in the subcortical, juxtacortical and periventricular MRI at age 48 years old: WM abnormality in the periventricular and subcortical, bilateral optic nerve changes, CC atrophy	CSF1R	c.2909_2910insATCA (p.F971Sfs*7)
5	F	27	29	Personality and behavioral changes; cognitive impairments; slurred speech; bradykinesia; rigidity; urinary incontinence	Bilaterally periventricular WM hyperintensity, ventricular enlargement and CC atrophy	CSF1R	c.2625G>A (p.M875I)
6	F	6	19	Unsteady gait; spasticity; urinary incontinence; constipation	Symmetric T2 hyperintensity of the corticospinal tracts and the periventricular WM	GALC	c.658C>T (p.R220*) c.767G>C (p.G256A)

AAO, age at onset; CC, corpus callosum; F, female; M, male; NA, not applicable; WM, white matter.