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Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders

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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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Fig. 1

From (Jellinger 2016b)

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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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    Kurt A. Jellinger

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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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