AD	Alzheimer’s disease
ADHD	attention deficit hyperactivity disorder
AR	activation ratio
ASD	autism spectrum disorder
ASFMR1	antisense FMR1
ASOs	antisense oligonucleotides
BAP	broad autism phenotype
BDNF	brain-derived nerve growth factor
BRIEF	The Behavior Rating Inventory of Executive Function Questionnaire
CANTAB	Cambridge Automated Neuropsychological Test Battery
CBT	cognitive-behavioral therapy
CRHR1	corticotropin releasing hormone type 1 receptor
CSF	cerebrospinal fluid
DBS	deep brain stimulation
DGCR8	DiGeorge syndrome critical region 8
DM1	myotonic dystrophy type 1
EBV	Epstein–Barr virus
EEG	electroencephalography
EGFP	green florescent protein
ERP	event-related potentials
FDA	Food and Drug Administration Agency
FECD	Fuchs endothelial corneal dystrophy
FMR1	fragile X messenger ribonucleoprotein 1 gene
fMRI	functional magnetic resonance imaging
FMRP	FMR1 protein
FRAXI	Fragile X International
FXAA	Fragile X Association of Australia
FXAND	fragile X-associated neuropsychiatric disorders
FXPAC	fragile X-premutation-associated conditions
FXPOI	fragile X-associated primary ovarian insufficiency
FXR	farnesoid X receptor
FXTAS	fragile X-associated tremor/ataxia syndrome
HNRNP A2/B1	heterogeneous nuclear ribonucleoprotein A1
hESC	human embryonic stem cell
hPSCs	human pluripotent stem cells
ID	intellectual disabilities
iPSCs	induced pluripotent stem cells
LFB-PAS	luxol fast blue/periodic acid-Schiff stain
LXR/RXR	liver X receptor/retinoid X receptor
mTOR	the mechanistic target of rapamycin
MBNL1	muscleblind-like protein 1
MCP sign	MRI findings of white-matter disease usually in the middle cerebellar peduncles
MDD	major depressive disorder
MOCA	Montreal cognitive assessment
MRI	magnetic resonance imaging
NFXF	National Fragile X Foundation
NIID	neuronal intranuclear inclusion disease
NZ	New Zealand
OPDM	oculopharyngodistal myopathy
OPML	oculopharyngeal myopathy with leukoencephalopathy
OT	occupational therapy
p62/SQSTM1	p62/sequestosome-1
PBMCs	peripheral blood mononuclear cells
PCOS	polycystic ovary syndrome
PD	Parkinson’s disease
PGD	preimplantation genetic diagnosis
PKR	protein kinase R
PM	premutation
PMDD	premenstrual dysphoric disorder
POI	primary ovarian insufficiency
PSAT1	phosphoserine aminotransferase 1
PSCs	pluripotent stem cells
PSMB5	proteasome subunit beta type-5
RAN	repeat-associated non-AUG
RBP	RNA-binding proteins
RCT	randomized placebo-controlled trial
Rm 62	ATP-dependent RNA helicase p62
RNAi	RNA interference
ROS	reactive oxygen species
SAM68	Src-associated substrate during mitosis of 68-kDa
SCAD	sudden coronary artery dissection
Sk2	sphingosine kinase
SNRIs	serotonin and norepinephrine reuptake inhibitors
SSRIs	selective serotonin reuptake inhibitors
SOD	superoxide dismutase 1
SUMO	small ubiquitin-like modifier
TDP-43	TAR DNA-binding protein 43
TNC	tenascin-C
WES	whole-exome sequencing
WGS	whole-genome sequencing
WMH	white-matter hyperintensities