Abbreviations

(genes are written in italics)

α-Gal

Alpha-Galactosidase

α -NAGA

α -N-Acetylgalactosaminidase

AARS

Alanyl-tRNA-synthetase

AAV

ANCA-Associated Vasculitides

ABCA1

ATP-Binding Cassette Transporter A1

ACA

Acrodermatitis chronica atrophicans

ACE

Angiotensin-Converting Enzyme

ACR

American College of Rheumatology

AD

Autosomal Dominant

ADCA

Autosomal dominant spinocerebellar atrophies

AFB

Acid Fast Bacilli

AFLP

Amplified Fragment Length Polymorphism

AIDP

Acute Inflammatory Demyelinating Polyneuropathy

ALN

Alcohol Related Neuropathy

ALS

Amyotrophic Lateral Sclerosis

ALS11

Amyotrophic Lateral Sclerosis of Type 11

AMAN

Acute Motor Axonal Neuropathy

AMP

Adenosine Monophosphate

AMSAN

Acute Motor and Sensory Axonal Neuropathy

ANA

Antinuclear Antibody

ANCA

Anti-Neutrophil Cytoplasmic Antibody

ANS

Ataxia Neuropathy Spectrum

APBD

Adult Polyglucosan Body Disease

APC

antigen-Presenting Cell

Apo

Apolipoproteins

ApoA-I

Apolipoprotein A-I

ApoB

Apolipoprotein B

AR

Autosomal Recessive

AR CMT

Autosomal Recessive Charcot–Marie–Tooth Neuropathy

AR CMT1

Autosomal Recessive Charcot–Marie–Tooth Neuropathy, of Demyelinating Type

AR CMT2

Autosomal Recessive Charcot–Marie–Tooth Neuropathy, of Axonal Type

ARHGEF10

Rho Guanine-Nucleotide Exchange [GEF] Factor 10

ARSA

Arylsulfatase A

ATL1

Atlastin 1

B.b

Borrelia burgdorferi

BBW rats

Biobreeding Wor rats

BDNF

Brain Derived Neurotrophic Factor

BEAR

Brain Stem Evoked Auditory Responses

CAN

Congenital Amyelinating Neuropathy

CANOMAD

Chronic Ataxic Neuropathy, Ophthalmoplegia, IgM paraprotein, cold Agglutinins and Disialosyl antibodies

CCT

Cytosolic Chaparonin-Containing T-complex peptide

CD4

Cluster of Differentiation 4

CES

Cholesterol Emboli Syndrome

CETP

Cholesteryl Ester Transfer Protein

CG

Cryoglobulinemia

CHCC

Chapel Hill Consensus Conference

CHIKV

Chikungunya Virus

CHN

Congenital Hypomyelination Neuropathy

CHS

Chediak–Higashi Syndrome

CIDP

Chronic Inflammatory Demyelinating Polyneuropathy/Polyradiculoneuropathy

CIM

Critical Illness Myopathy

CIP

Critical Illness Polyneuropathy

CIPA

Congenital Insensitivity to Pain with Anhydrosis

CIPN

Chemotherapy-Induced Toxic Peripheral Neuropathies

CMAP

Compound Muscle Action Potential(s)

CMT

Charcot–Marie–Tooth

CMT DI

Charcot–Marie–Tooth Neuropathy, Autosomal Dominant, of Intermediate type

CMT RIA

Charcot–Marie–Tooth Neuropathy, Autosomal Recessive, of Intermediate type A

CMT X

X-linked Charcot–Marie–Tooth Neuropathy

CMT

Charcot–Marie–Tooth disease/neuropathy

CMT1

Charcot–Marie–Tooth neuropathy, autosomal dominant, of demyelinating type

CMT2

Charcot–Marie–Tooth neuropathy, autosomal dominant, of axonal type/type 2

CMT4

Charcot–Marie–Tooth neuropathy, autosomal recessive, of demyelinating type

CMTID

Intermediate Charcot–Marie–Tooth

CMTX

X-linked Charcot–Marie–Tooth

CMV

Cytomegalovirus

CNM

Centronuclear Myopathy

CNS

Central Nervous System

CNTF

Ciliary Neuron Trophic Factor

COPD

Chronic Obstructive Pulmonary Disease

COX

Cytochrome c OXidase

CRMP5

Collapsin Response Mediator Protein 5

CSAP

Compound Sensory Action Potential

CSF

Cerebrospinal Fluid

CSNAP

Compound Sensory Nerve Action Potential

CTD

Connective Tissue Disease

CTL

Cytotoxic T Lymphocyte

CTX

Cerebrotendinous Xanthomatosis

Cx31

Connexin 31 (= GJB3)

Cx32

Connexin 32

DANP

Diabetic Autonomic Neuropathy

DCBU

Dorsal Cutaneous Branch of the Ulnar nerve

DCCT

Diabetes Control and Complications Trial

DCRPN

Diabetic Cervical Radiculoplexus Neuropathy

DDT

Dichloro-Diphenyl-Trichloroethane

DHH

Desert Hedgehog Homolog (Drosophila)

dHMN

Distal Hereditary Motor Neuropathy

DIC

Disseminated Intravascular Coagulation

DILS

Diffuse Infiltrative Lymphocytic Syndrome

DLRPN

Diabetic Lumbosacral Radiculoplexus Neuropathy

DNA

DeoxyRiboNucleic Acid

DNM

Dynamin

DNM2

Dynamin 2

DNMT

DNA Methyl Transferase

DNP

Diabetic Neuropathy

DRG

Dorsal Root Ganglia

DSD

Déjérine–Sottas Disease

DSS

Déjérine–Sottas Syndrome

dSMA

Distal SMA

DSP

Distal Sensory Polyneuropathy

DβH

Dopamine β-hydroxylase

EAN

Experimental Allergic Neuritis

EBV

Epstein–Barr virus

EEG

Electroencephalogram

EGPA

Eosinophilic Granulomatosis with PolyAngiitis

EGR

Early Growth Response Gene

EGR2

Early Growth Response 2 encoding gene

ELISA

Enzyme-Linked Immunosorbent Assay

EM

Electron Microscopy

EMA

Epithelial Membrane Antigen

EMG

Electromyography

ENF

Epidermal Nerve Fibres

ENMG

ElectroNeuroMyoGraphy

ER

Endoplasmic Reticulum

ERK/MAPK

Extracellular Signal-Regulated Kinases/Mitogen-Activated Protein Kinases

ERT

Enzyme Replacement Therapy

ESR

Erythrocyte Sedimentation Rate

FAM134B

FAMily with sequence similarity 134, member B

FAP

Familial Amyloid Neuropathy

FBLN5

Fibulin 5

FFM

Focally Folded Myelin

FGD4

FYVE, RhoGEF and PH Domain-containing protein 4 encoding gene

FIG4

Polyphosphoinositide phosphatase encoding gene

FLAIR

Fluid-Attenuated Inversion-Recovery

FLC

Fibrous Long-spacing Collagen

Frabin

FGD1-related F-actin binding protein

FSGS

Focal Segmental GlomeruloSclerosis

GAN

Giant Axonal Neuropathy (GAN1)

GAP-43

Growth Associated Protein-43

GARS

Glycyl-tRNA...