Skip to main content
. 2024 Feb 28;15(3):311. doi: 10.3390/genes15030311
AD autosomal dominant
ALS Amyotrophic Lateral Sclerosis
AR autosomal recessive
CMT Charcot-Marie-Tooth disease
dHMN distal hereditary motor neuronopathy
fALS familial Amyotrophic Lateral Sclerosis
FTD Frontotemporal Dementia
GBE glycogen branching enzyme
HSAN Hereditary Sensory and Autonomic Neuropathy
HSP Hereditary Spastic Paraplegia
IAHSP Infantile-onset Ascending Hereditary Spastic Paralysis
JALS Juvenile Amyotrophic Lateral Sclerosis
L-BMAA L-β-N-methylamino-L-alanine
LMN Lower Motor Neuron
MND Motor Neuron Disease
MUNE Motor Unit Number Estimation
MUNIX Motor Unit Number Index
NGS Next-generation sequencing
NMDA N-methyl-D-aspartate
PCR Polymerase Chain Reaction
PLS Primary Lateral Sclerosis
RWE Real-world Evidence
sALS sporadic Amyotrophic Lateral Sclerosis
SCA spinocerebellar ataxia
SMA Spinal Muscular Atrophy
SMALED Spinal Muscular Atrophy with lower extremity dominance
SPG Spastic Paraplegia
STAHP Progressive Spastic Tetraplegia and Axial Hypotonia
TUDCA Tauro-ursodeoxycholic acid
UMN Upper Motor Neuron
WES Whole-exome sequencing
XLD X-linked inheritance (dominant)