3R-tau	three-repeat tau
4R-tau	four-repeat tau
ACTB	actin-beta
ACTG1	actin-gamma 1
AD	autosomal dominant
ALS18	amyotrophic lateral sclerosis 18
AMPA	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid
AR	autosomal recessive
Arp2/3	actin-related protein 2/3
ATP	adenosine triphosphate
BRWS1	Baraitser–Winter syndrome 1
BRWS2	Baraitser–Winter syndrome 2
CDCBM5	cortical dysplasia, complex, with other brain malformations 5
CFEOM1	congenital fibrosis of the extraocular muscles 1
CFEOM3A	fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
CMT	Charcot–Marie–Tooth disease
CMT1	Charcot–Marie–Tooth disease type 1
CMT1F	Charcot–Marie–Tooth disease, demyelinating, type 1F
CMT2	Charcot–Marie–Tooth disease type 2
CMT2E	Charcot–Marie–Tooth disease, axonal, type 2E
CMT2O	Charcot–Marie–Tooth disease, axonal, type 2O
CMTDIE	Charcot–Marie–Tooth disease, dominant intermediate E
CNS	central nervous system
DCTN1	dynactin subunit 1
DCX	doublecortin
DEE5	developmental and epileptic encephalopathy 5
DNA	deoxyribonucleic acid
DST	dystonin
DYNC1H1	dynein cytoplasmic 1 heavy chain 1
EBS5B	epidermolysis bullosa simplex 5B with muscular dystrophy
FEOM3	fibrosis of the extraocular muscles 3 locus
FLNA	filamin A
GAN	gigaxonin
GAN1	giant axonal neuropathy 1, autosomal recessive
GFAP	glial fibrillary acidic protein
GTP	guanosine triphosphate
HLD6	leukodystrophy, hypomyelinating, 6
HSAN VI	hereditary sensory and autonomic neuropathy type VI
INF2	inverted formin 2
kDa	kilodalton
KIF1A	kinesin family member 1A
KIF21A	kinesin family member 21A
LCAEOD	Leber congenital amaurosis with early-onset deafness
LIS1	lissencephaly 1
LIS3	lissencephaly 3
LISX1	lissencephaly, X-linked, 1
MAP	microtubule-associated protein
MAPT	microtubule-associated protein tau
MBP	myelin basic protein
MRI	magnetic resonance imaging
NCV	nerve conduction velocity
NEFL	neurofilament light chain
NESCAV	neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
OMIM	online Mendelian inheritance in man
PAFAH1B1	platelet-activating factor acetylhydrolase 1B regulatory subunit 1
PFN1	profilin 1
PLEC1	plectin 1
PLP1	proteolipid protein 1
PNS	peripheral nervous system
PSNP1	supranuclear palsy, progressive, 1
PVNH1	periventricular nodular heterotopia 1
RNA	ribonucleic acid
SBH	subcortical band heterotopia
SCA5	spinocerebellar ataxia 5
SPTAN1	spectrin alpha, non-erythrocytic 1
SPTBN2	spectrin beta, non-erythrocytic 2
TDP-43	transactive response DNA-binding protein 43 kDa
TUBA1A	tubulin alpha 1A
TUBB2A	tubulin beta 2A
TUBB3	tubulin beta 3
TUBB4A	tubulin beta 4A
TUBB4B	tubulin beta 4B
XL	X-linked
XLD	X-linked dominant