Abbreviations

AD Alzheimer disease ADCA Autosomal dominant cerebellar ataxia ADEM Acute disseminated encephalomyelitis ADNFLE Autosomal dominant nocturnal frontal lobe epilepsy
AFD Anderson-Fabry disease AHT Arterial hypertension ALD Adrenoleucodystrophy ALS Amyotrophic lateral sclerosis ANA Antinuclear antibodies ANCA Antineutrophil cytoplasmic antibodies
APBD Adult polyglucosan body disease APLS Antiphospholipid syndrome BAEP Brainstem auditory evoked potential BICHT Benign intracranial hypertension CAA Cerebral amyloid angiopathy CADASIL cerebral autosomal dominant arteropathy with subcortical infarcts and leucoencephalopathy CBC Cell blood count CBGD Corticobasal ganglionic degeneration CCM Central core myopathy
CJD Creutzfeldt-Jakob disease
CMAP Compound muscle action potential CMV Cytomegalovirus CNS Central nervous system
CPT Carnitine palmitoyltransferase deficiency CRV Cerebroretinal vasculopathy CSF Cerebrospinal fluid
CT Computerized tomography CTTH Chronic tension-type headache
DBP Diastolic blood pressure DED3 Debrancher enzyme deficiency type III
DMD Distal muscular dystrophy
DMRV Distal myopathy with rimmed vacuoles
DRD Dopa-responsive dystonia DRPLA Dentatorubropallidoluysian atrophy EBV Epstein Barr virus ECG Electrocardiogram
EEE Eastern equine encephalitis EEG Electroencephalogram EM Electron microscopy EMG Electromyography EOARR Early onset ataxia with retained reflexes ERG retinogram ET Essential tremor ETTH Episodic tension-type headache FA Friedreich ataxia FARR Friedreich ataxia with retained reflexes FAVED Familial ataxia with vitamin E deficiency FLAIR Fluid-attenuated inversion recovery FSHMD Facioscapulohumeral muscular dystrophy FTDP Frontotemporal dementia with parkinsonism FTLD Frontotemporal lobe dementia ESR Erythrocyte sedimentation rate GACRH Gyrate atrophy of the choroid and retina with hyperornithinemia GBS Guillain-Barré syndrome GM₁ ggld GM₁ gangliosidosis GSS Gerstmann-Sträussler-Scheinker disease HD Huntington disease HIV Human immunodeficiency virus HPHA Hemiparkinsonism-hemiatrophy HSD Hallervorden-Spatz disease HSMN Hereditary sensorimotor neuropathy HSP Hereditary spastic paraplegia
HVA Homovanillic acid IBM Inclusion body myositis ILOCA Idiopathic late onset cerebellar ataxia IPD Idiopathic Parkinson disease KSS Kearns Sayre syndrome KLD Krabbe leucodystrophy LBD Lewy body disease LFT Liver function tests LGMD Limb girdle muscular dystrophy LHON Leber hereditary optic neuropathy LP Lumbar puncture MDS Myoclonus dystonia syndrome MELAS Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes MERRF Myoclonic epilepsy with ragged red fibers MIS Multi-infarct syndrome MLD Metachromatic leucodystrophy MND Motor neuron disease MNGIE Mitochondrial myopathy with neuropathy, gastrointestinal symptoms and encephalopathy MPD5 Myophosphorylase deficiency type V
MPTP N-methyl-4-phenyl-tetrahydropyridine MRI Magnetic resonance imaging MRS Magnetic resonance spectroscopy MS Multiple sclerosis MSA Multiple system atrophy NARP Neurogenic muscle weakness, ataxia and retinitis pigmentosa NCL Neuroceroid lipofuscinosis NCV Nerve conduction velocity NPC Niemann Pick type C disease NPH Normal pressure hydrocephalus nvCJD New variant Creutzfeld Jacob disease OA Optic atrophy OCB Oligoclonal bands
ON Optic neuropathy OPMD Oculopharyngeal muscular dystrophy
OTCD Ornithine transcarbamase deficiency PACNS Primary angiitis of the central nervous system PAF Progressive autonomic failure PBKD Phosphorylase b kinase deficiency
PAN Periarteritis nodosa
PCR Polymerase chain reaction PD Parkinson Disease PET Positron emission tomography PFKD Phosphofructokinase deficiency
PME Progressive myoclonic epilepsy PMFLE Progressive multifocal leucoencephalopathy PNP Polyneuropathy PrP^SC Prion protein PSP Progressive supranuclear palsy PTD Primary torsion dystonia
RBC Red blood cell RCDS Respiratory chain defects
RDP Rapid-onset dystonia-parkinsonism RF Rheumatoid factor RPR Rapid plasma reagin SAH Subarachnoidal hemorrhage
SBP Systolic blood pressure SCA Spinocerebellar atrophy
ScPMD Scapuloperoneal muscular dystrophy
SMA-III spinal muscular atrophy type III
SMA-IV spinal muscular atrophy type IV
SNAP Sensory nerve action potential SNE Subacute necrotizing encephalopathy SLE Systemic lupus erythematosus
SSEP Somatosensory evoked potential SSPE Subacute sclerosing panencephalitis SUNCT Short-lasting unilateral neuralgiform pain with conjunctival injection and tearing TAM Tubular aggregates myopathy
UMN Upper motor neuron
VDRL Venereal disease research laboratory VEP Visual evoked potential VLCFA Very long chain fatty acids
VZV Varicella zoster virus WD Wilson disease
WMHI White matter hyperintensity X-ALD X-linked adrenoleucodystrophy

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