Abstract
Extrapyramidal movement disorders comprise hypokinetic-rigid and hyperkinetic or mixed forms, most of them originating from dysfunction of the basal ganglia (BG) and their information circuits that have been briefly reviewed in part 1 of the papers on neuropathology and pathogenesis of extrapyramidal movement disorders. The classification of hyperkinetic forms distinguishes the following: (1) chorea and related syndromes; (2) dystonias (dyskinesias); (3) tics and tourette disorders; (4) ballism; (5) myoclonic and startle disorders; and (6) tremor syndromes. Recent genetic and molecular classification distinguishes the following: (1) polyglutamine disorders (Huntington’s disease and related disorders); (2) pantothenate kinase associated neurodegeneration; (3) Wilson’s disease and related disorders; and (4) other hereditary neurodegenerations without hitherto detected genetic or specific markers. The diversity of phenotypes is related to the deposition of pathologic proteins in distinct cell populations, causing neurodegeneration due to genetic and environmental factors, but there is frequent overlap between various disorders. Their etiopathogenesis is still poorly understood but is suggested to result from an interaction between genetic and environmental factors, multiple etiologies, and noxious factors (protein mishandling, mitochondrial dysfunction, oxidative stress, excitotoxicity, energy failure, chronic neuroinflammation), being more likely than one single factor. Current clinical consensus criteria have increased the diagnostic accuracy of most neurodegenerative movement disorders, but for their definite diagnosis, histopathological confirmation is required. A timely overview of the neuropathology and pathogenesis of the major hyperkinetic movement disorders is presented.
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Abbreviations
- α-Syn:
-
α-Synuclein
- AD:
-
Alzheimer's disease
- AGs:
-
Argyrophilic grains
- ALS:
-
Amyptrophic lateral sclerosis
- ATN1:
-
Atrophin-1
- AutD:
-
Autosomal-dominant
- AutR:
-
Autosomal-recessive
- BDNF:
-
Brain-derived neurotrophic factor
- BG:
-
Basal ganglia
- BHC:
-
Benign hereditary chorea
- BIBD:
-
Basophilic inclusion body disease
- CAA:
-
Cerebral amyloid angiopathy
- CAG:
-
Polyglutamine
- CBD:
-
Corticobasal degeneration
- CBGTC:
-
Cortico-BG-thalamocortical
- CBS:
-
Corticobasal syndrome
- CD:
-
Cervical dystonia
- ChAc:
-
Chorea-acanthocytosis
- ChAT:
-
Choline-acetyl transferase
- CI:
-
Cognitive impairment
- CN:
-
Caudate nucleus
- CNS:
-
Central nervous system
- CoA:
-
Coenzyme A
- DA:
-
Dopamine
- DLB:
-
Dementia with Lewy bodies
- DRD:
-
Dopa-responsive dystonia
- DRPLA:
-
Dentatorubral–pallidoluysian atrophy
- DS:
-
Dystonia syndrome
- ENK:
-
Enkephalin
- ET:
-
Essential tremor
- FTL:
-
Ferritin light chain
- FUS:
-
Fused-in sarcoma
- GABA:
-
γ-aminobutyric acid
- GBA:
-
Glucocerebrosidase gene
- GCase:
-
Glucocerebrosidase
- GDNF:
-
Glia-derived neurotrophic factor
- GPe:
-
External segment of globus pallidus
- GPi:
-
Internal segment of globus pallidus
- HD:
-
Huntington’s disease
- HDL:
-
Huntington disease-like
- HTT:
-
Huntingtin
- LaBs:
-
Lafora bodies
- LB:
-
Lewy body
- LC:
-
Locus ceruleus
- MCI:
-
Mild cognitive impairment
- MD:
-
Menkes’ disease
- mHTT:
-
Mutant huntingtin
- MJD:
-
Machado-Joseph disease
- MRI:
-
Magnetic resonance imaging
- MSA:
-
Multiple system atrophy
- MSN:
-
Medium spiny projection neuron
- NA:
-
Neuroacanthocytosis
- NBIA:
-
Neurodegeneration with brain iron accumulation
- NBM:
-
Nucleus basalis of Meynert
- NFTs:
-
Neurofibrillary tangles
- NIID:
-
Neuronal intranuclear inclusion disease
- NT:
-
Neuropil threads
- OCD:
-
Obsessive-compulsive disorder
- OS:
-
Oxidative stress
- PC:
-
Purkinje cell
- PD:
-
Parkinson’s disease
- PDC:
-
Parkinson’s disease complex
- PKAN:
-
Pantothenate-kinase associated neurodegeneration
- PKD:
-
Paroxysmal kinesic dyskinesia
- PLAN:
-
Phospholipase A2-associated neurodegeneration
- PNKD:
-
Paroxysmal non-kinesic dyskinesias
- PPN:
-
pedunculopontine nucleus
- PPT:
-
Pedunculo-pontine tegmental
- PSP:
-
Progressive supranuclear palsy
- Put:
-
Putamen
- RDP:
-
Rapid-onset dystonia-parkinsonism
- SCA:
-
Spinocerebellar ataxia
- SN:
-
Substantia nigra
- SNc:
-
Substantia nigra pars compacta
- SNr:
-
Substantia nigra pars reticulata
- SP:
-
Substance P
- STN:
-
Subthalamic nucleus
- TDP-43:
-
Transactive DNA-binding protein
- TS:
-
Tourette's syndrome
- Ub:
-
Ubiquitin
- VM:
-
Ventromedial
- VTA:
-
Ventral tegmental area
- WD:
-
Wilson’s disease
- XDP:
-
X-linked dystonia-parkinsonism
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Acknowledgements
The author thank Mr. E. Mitter-Ferstl, Ph.D., for secretarial and graphical work. The study was partially funded by the Society for the Promotion of Research in Experimental Neurology, Vienna, Austria.
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Jellinger, K.A. Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders. J Neural Transm 126, 997–1027 (2019). https://doi.org/10.1007/s00702-019-02030-y
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DOI: https://doi.org/10.1007/s00702-019-02030-y