We reviewed only articles published in English. We identified references through searching PubMed using the terms “movement disorders”, “Parkinson's disease”, “Huntington's disease”, “dystonia”, “executive dysfunctions”, “cognitive impairment-Parkinson's disease”, “psychiatric complications”, “genetics”, and “levodopa and dopamine agonists” as main keywords between January, 1970, and October, 2013. The reference list shows the main work published in the specialty according with our
SeriesThe expanding universe of disorders of the basal ganglia
Introduction
In modern clinical practice, the basal ganglia refers mainly to the striatum, the internal and external globus pallidus, the subthalamic nucleus, and the substantia nigra pars compacta and pars reticulata because of their close anatomical connectivity and pathophysiological implications (figure 1). The basal ganglia were implicated in the origin of movement disorders by Wilson's observations 100 years ago that lesions of the lenticular nucleus were associated with dystonia and parkinsonism1 and that focal lesions of the subthalamic nucleus and substantia nigra pars compacta caused hemichorea-ballism2 and parkinsonism,3 respectively. In his seminal Croonian lecture in 1925,4 Wilson stated: “I have found no reason to modify in any important respect…that the main features of disease of the corpus striatum consist of disorders of muscle tone regulation and the appearance of involuntary movements”. The recognition that Parkinson's disease arises as a consequence of degeneration of the substantia nigra pars compacta and loss of striatal dopamine5 reinforced this idea. Marsden6 subsequently concluded that “on the basis of the motor deficits observed in patients with Parkinson's disease, the basal ganglia normally are responsible for the automatic execution of learned motor plans”. In the mid-1980s, the emergence of a basal ganglia model7, 8, 9, 10(figure 2), which focused on the pathophysiology of parkinsonism and dyskinesias, further strengthened the association between the basal ganglia and abnormal movements. During the past two decades, robust evidence has accumulated that the basal ganglia are intimately connected with the cortex through several segregated but parallel loops (figure 1), which have been subdivided into motor, associative (cognitive), and limbic (emotional) domains.11 They deal, respectively, with the control of movement, behaviour and cognition, and reward and emotions. These features have also been documented for the striatum and subthalamic nucleus by MRI in people.12, 13 Accordingly, dysfunction in any one of these circuits can give rise to movement disorders, behavioural and cognitive abnormalities, and mood changes.
Section snippets
Movement disorders
Two fundamental disorders of muscle activation in the absence of paralysis or weakness are linked to disorders of the basal ganglia (videos 1–3). First, the parkinsonian syndrome is characterised by poverty and slowness of movement (akinesia or bradykinesia) and typically associated with increased muscle tone (rigidity), giving rise to the akinetic-rigid or parkinsonian syndrome, which can also be accompanied by tremor at rest. Second, dyskinesias and hyperkinesias are movements characterised
Anatamo-functional basis
Just as parkinsonism and dyskinesia represent opposite ends of the movement disorder spectrum and dysfunction of the motor circuit, impairments in the associative/limbic cortico-basal ganglia loop (figure 1) can give rise to reduced or excessive appetite and impulses (apathy and impulsivity). Whether a particular action is pertinent is controlled by the prefrontal cortex and the anterior striatum, which are typically engaged in executive functions such as sequential learning, decision making,
The role of dopamine
The basal ganglia and the dopaminergic projections (mesostriatal, mesolimbic, mesocortical) are involved in several cognitive functions, such as decision making, task switching, and dual tasking, which are typically associated with the frontal lobe but also with time estimation mechanisms and speech, and which engage large neuronal networks. The role of dopamine and the ventral striatum in the control of mood, pleasure, reward, and motivation in people is now well documented. A reasonable
Initial discoveries
The development and expansion of the study of movement disorders has been mainly driven by and based on the recognition of clinical patterns (phenomenology of movement disorders, associated neuropsychiatric conditions) and pathophysiological mechanisms. However, as in all disciplines of medicine, genetics is now having an extraordinary effect in revealing new perspectives on old clinical conditions and in providing a better understanding of aetiopathogenesis and pathophysiology. Genetic studies
Beyond movement disorders
Dysfunction and pathology of different regions and circuits are now known to give rise to many clinical manifestations that contradict the classic concept equating dysfunction of the basal ganglia with movement disorders. Additionally, typical diseases associated with the basal ganglia have diverse pathologies distributed not only in the brain but also in the peripheral and autonomic nervous systems. This knowledge has substantially expanded investigation and also posed new challenges. Although
Search strategy and selection criteria
References (83)
Primate models of dyskinesia: the experimental approach to the study of basal ganglia-related involuntary movement disorders
Neuroscience
(1987)- et al.
Neural mechanisms underlying parkinsonian symptoms based upon regional uptake of 2-deoxyglucose in monkeys exposed to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine
Neuroscience
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The functional anatomy of basal ganglia disorders
Trends Neurosci
(1989) Primate models of movement disorders of basal ganglia origin
Trends Neurosci
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Confirmation of functional zones within the human subthalamic nucleus: patterns of connectivity and sub-parcellation using diffusion weighted imaging
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The striatum and probabilistic implicit sequence learning
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Switching from automatic to controlled behavior: cortico-basal ganglia mechanisms
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Contributions of the basal ganglia and functionally related brain structures to motor learning
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The subthalamic nucleus is involved in successful inhibition in the stop-signal task: a local field potential study in Parkinson's disease
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Chronic dopaminergic stimulation in Parkinson's disease: from dyskinesias to impulse control disorders
Lancet Neurol
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Reduced dopamine transporter density in the ventral striatum of patients with Parkinson's disease and pathological gambling
Neurobiol Dis
The functional anatomy of Gilles de la Tourette syndrome
Neurosci Biobehav Rev
Psychosis, apathy, depression and anxiety in Parkinson's disease
Neurobiol Dis
The neuropathological basis for depression in Parkinson's disease
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Biological markers of cognition in prodromal Huntington's disease: a review
Brain Cogn
Neuropsychiatric aspects of treated Wilson's disease
Parkinsonism Relat Disord
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
Lancet Neurol
Autonomic failures in Perry syndrome with DCTN1 mutation
Parkinsonism Relat Disord
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
Lancet Neurol
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
Cell Rep
The link between the GBA gene and parkinsonism
Lancet Neurol
Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver
Brain
Hemichorea resulting from a location lesion of the brain (the syndrome of the body of Luys)
Brain
Substantia nigra and Parkinson's disease: a brief history of their long and intimate relationship
Can J Neurol Sci
Disorders of motility and tone
Lancet
[Distribution of noradrenaline and dopamine (3-hydroxytyramine) in the human brain and their behavior in diseases of the extrapyramidal system]
Klin Wochenschr
The mysterious motor function of the basal ganglia: the Robert Wartenberg Lecture
Neurology
Parallel organization of functionally segregated circuits linking basal ganglia and cortex
Annu Rev Neurosci
Motor control in basal ganglia circuits using fMRI and brain atlas approaches
Cereb Cortex
Pathophysiology of levodopa-induced dyskinesias in Parkinson's disease: problems with the current model
Ann Neurol
The functions of the basal ganglia and the paradox of stereotaxic surgery in Parkinson's disease
Brain
Cortical and subcortical contributions to Stop signal response inhibition: role of the subthalamic nucleus
J Neurosci
Effects of transient inactivation of the subthalamic nucleus by local muscimol and APV infusions on performance on the five-choice serial reaction time task in rats
Psychopharmacology (Berl)
Impulse control disorders in Parkinson disease: a cross-sectional study of 3090 patients
Arch Neurol
Prospective cohort study of impulse control disorders in Parkinson's disease
Mov Disord
Screening for impulse control symptoms in patients with de novo Parkinson disease: a case-control study
Neurology
Increased striatal dopamine release in Parkinsonian patients with pathological gambling: a [11C] raclopride PET study
Brain
Drug-induced deactivation of inhibitory networks predicts pathological gambling in PD
Neurology
Stimulation of subterritories of the subthalamic nucleus reveals its role in the integration of the emotional and motor aspects of behavior
Proc Natl Acad Sci USA
Involvement of the subthalamic nucleus in impulse control disorders associated with Parkinson's disease
Brain
Cited by (142)
Structural alterations of the motor cortex and higher order cortical areas suggest early neurodevelopmental origin of catatonia in schizophrenia
2024, Schizophrenia ResearchCitation Excerpt :These areas clearly extend the core motor system, supporting catatonia as a truly psychomotor syndrome. Similar as affective and behavioral experiences may shape motor behavior in Parkinson's disease, motor behavior in catatonia is associated with affective and behavioral states (Hirjak et al., 2020; Obeso et al., 2014; Walther et al., 2019). Importantly, we found these associations in patients with catatonia irrespective of the applied rating scale, challenging the hypothesis of Hirjak et al. (2020), who suggested that the NCRS was more sensitive to psychomotor features than the BFCRS thought to focus on “pure” motor abnormalities.
Computational models of behavioral addictions: State of the art and future directions
2023, Addictive BehaviorsCitation Excerpt :These alterations in turn bias future choice selections, favoring the repetition of the stimulus-response combination that led to dopamine signals, resulting in instrumental conditioning, thus providing the neural mechanisms underlying the described increased reliance on model-free control (Barto, 1995; M. J. Frank, Seeberger, & O'Reilly R, 2004; Gurney, Prescott, & Redgrave, 2001a, 2001b). Furthermore, the presence of multiple parallel cortico-striatal circuits characterized by different functions, but similar architectures (Haber, 2016; Jahanshahi, Obeso, Rothwell, & Obeso, 2015; Obeso, Rodriguez-Oroz, Stamelou, Bhatia, & Burn, 2014) led to the hypothesis that dopamine signals could affect the neural dynamics of multiple circuits at the same time (Fiore et al., 2018). In particular, the neural dynamics of dorsal (sensorimotor selections) and ventral (value processing and goal selections) cortico-striatal circuits are usually associated with model-free and model-based control (Dolan & Dayan, 2013; O'Doherty, Cockburn, & Pauli, 2017).
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