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Journal of the Neurological Sciences Jan 2023
Topics: Humans; United States; Parkinsonian Disorders; Parkinson Disease
PubMed: 36535206
DOI: 10.1016/j.jns.2022.120502 -
Journal of Medical Genetics Feb 2018Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability,... (Review)
Review
Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic markers revealing a widespread and progressive pathology. Many other neurological conditions also include parkinsonism as primary or secondary symptom, confounding their diagnosis and treatment. Although overall disease course and end-stage pathological examination single out these conditions, the significant overlaps suggest that they are part of a continuous disease spectrum. Recent genetic discoveries support this idea because mutations in a few genes (α-synuclein, , tau) can cause partially overlapping pathologies. Additionally, mutations in causative genes and environmental toxins identify protein homeostasis and the mitochondria as key mediators of degeneration of dopaminergic circuits in the basal ganglia. The evolving mechanistic insight into the pathophysiology of PD and related conditions will contribute to the development of targeted and effective symptomatic treatments into disease-modifying therapies that will reduce the burden of these dreadful conditions.
Topics: Dopamine; Genes, Dominant; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; Mitochondria; Mutation; Neurons; Parkinson Disease; Parkinsonian Disorders; alpha-Synuclein; tau Proteins
PubMed: 29151060
DOI: 10.1136/jmedgenet-2017-105047 -
Journal of Parkinson's Disease 2021Early-onset Parkinson's disease (EOPD), occurring between ages 40 and 55, carries social, societal, and personal consequences and may progress, with fewer comorbidities...
BACKGROUND
Early-onset Parkinson's disease (EOPD), occurring between ages 40 and 55, carries social, societal, and personal consequences and may progress, with fewer comorbidities than typical, later-onset disease.
OBJECTIVE
To examine the incidence and survival of EOPD and other Parkinsonism occurring before age 55 in the population-based cohort of residents in seven Minnesota counties.
METHODS
A movement-disorder specialist reviewed all the medical records in a 2010-2015 Parkinsonism-incident cohort to confirm diagnosis and subtypes.
RESULTS
We identified 27 patients diagnosed at ≤ 50 years with incident Parkinsonism 2010-15:11 (41%) cases of EOPD, 13 (48%) drug-induced Parkinsonism, and 3 (11%) other Parkinsonism; we also identified 69 incident cases of Parkinsonism ≤ 55 years, of which 28 (41%) were EOPD, 28 (41%) DIP, and 13 (19%) other Parkinsonism. Overall incidence for Parkinsonism ≤ 50 years was 1.98/100,000 person-years, and for EOPD was 0.81/100,000 person-years. In patients ≤ 55 years, Parkinsonism incidence was 5.05/100,000 person-years: in EOPD, 2.05/100,000 person-years. Levodopa-induced dyskinesia was present in 45%of EOPD (both ≤ 50 years and ≤ 55 years). Onset of cardinal motor symptoms was proximate to the diagnosis of EOPD, except for impaired postural reflexes, which occurred later in the course of EOPD. Among the 69 Parkinsonism cases ≤ 55 years, 9 (13%; all male) were deceased (only 1 case of EOPD). Men had a higher mortality risk compared to women (p = 0.049).
CONCLUSION
The incidence of EOPD ≤ 50 years was 0.81/100,000 person-years (1.98 in Parkinsonism all type); prior to ≤ 55 years was 2.05/100,000 person-years (5.05 in Parkinsonism all type) with higher incidence in men than women. Men with Parkinsonism, all type, had higher mortality compared to women.
Topics: Adult; Age of Onset; Dyskinesias; Female; Humans; Levodopa; Male; Middle Aged; Parkinson Disease; Parkinsonian Disorders
PubMed: 33720851
DOI: 10.3233/JPD-202464 -
Expert Review of Neurotherapeutics Aug 2011
Topics: Drug Industry; Humans; Nervous System Diseases; Parkinson Disease; Parkinsonian Disorders; Psychotropic Drugs
PubMed: 21797648
DOI: 10.1586/ern.11.96 -
Neuromodulation : Journal of the... Oct 2023Falls in extrapyramidal disorders, particularly Parkinson's disease (PD), multisystem atrophy (MSA), and progressive supranuclear palsy (PSP), are key milestones... (Review)
Review
BACKGROUND
Falls in extrapyramidal disorders, particularly Parkinson's disease (PD), multisystem atrophy (MSA), and progressive supranuclear palsy (PSP), are key milestones affecting patients' quality of life, incurring increased morbidity/mortality and high healthcare costs. Unfortunately, gait and balance in parkinsonisms respond poorly to currently available treatments. A serendipitous observation of improved gait and balance in patients with PD receiving spinal cord stimulation (SCS) for back pain kindled an interest in using SCS to treat gait disorders in parkinsonisms.
OBJECTIVES
We reviewed preclinical and clinical studies of SCS to treat gait dysfunction in parkinsonisms, covering its putative mechanisms and efficacies.
MATERIALS AND METHODS
Preclinical studies in animal models of PD and clinical studies in patients with PD, PSP, and MSA who received SCS for gait disorders were included. The main outcome assessed was clinical improvement in gait, together with outcome measures used and possible mechanism of actions.
RESULTS
We identified 500 references, and 45 met the selection criteria and have been included in this study for analysis. Despite positive results in animal models, the outcomes in human studies are inconsistent.
CONCLUSIONS
The lack of blind and statistically powered studies, the heterogeneity in patient selection and study outcomes, and the poor understanding of the underlying mechanisms of action of SCS are some of the limiting factors in the field. Addressing these limitations will allow us to draw more reliable conclusions on the effects of SCS on gait and balance in extrapyramidal disorders.
Topics: Humans; Parkinson Disease; Spinal Cord Stimulation; Quality of Life; Parkinsonian Disorders; Multiple System Atrophy; Gait
PubMed: 37452800
DOI: 10.1016/j.neurom.2023.06.003 -
Movement Disorders : Official Journal... Feb 2004Juvenile parkinsonism (JP) describes patients in whom the clinical features of parkinsonism manifest before 21 years of age. Many reported cases that had a good response... (Review)
Review
Juvenile parkinsonism (JP) describes patients in whom the clinical features of parkinsonism manifest before 21 years of age. Many reported cases that had a good response to levodopa have proved to have autosomal recessive juvenile parkinsonism (AR-JP) due to mutations in the parkin gene. With the exception of parkin mutations and dopa-responsive dystonia, most causes are associated with the presence of additional neurological signs, resulting from additional lesions outside of the basal ganglia. Lewy body pathology has only been reported in one case, suggesting that a juvenile form of idiopathic Parkinson's disease may be extremely rare.
Topics: Adolescent; Adult; Brain; Chromosome Aberrations; Genes, Recessive; Humans; Lewy Bodies; Mutation; Neurologic Examination; Parkinson Disease; Parkinsonian Disorders; Ubiquitin-Protein Ligases
PubMed: 14978667
DOI: 10.1002/mds.10644 -
Transactions of the Medical Society of... 1956
Topics: Humans; Parkinson Disease; Parkinsonian Disorders
PubMed: 13360892
DOI: No ID Found -
Turkish Journal of Medical Sciences Apr 2021The dopamine transporter (DAT) imaging provides an objective tool for the assessment of dopaminergic function of presynaptic terminals which is valuable for the... (Review)
Review
The dopamine transporter (DAT) imaging provides an objective tool for the assessment of dopaminergic function of presynaptic terminals which is valuable for the differential diagnosis of parkinsonian disorders related to a striatal dopaminergic deficiency from movement disorders not related a striatal dopaminergic deficiency. DAT imaging with single-photon emission computed tomography (SPECT) can be used to confirm or exclude a diagnosis of dopamine deficient parkinsonism in cases where the diagnosis is unclear. It can also detect the dopaminergic dysfunction in presymptomatic subjects at risk for Parkinson’s disease (PD) since the reduced radiotracer binding to DATs in striatum is already present in the prodromal stage of PD. This review covers the rationale of using DAT SPECT imaging in the diagnosis of PD and other parkinsonian disorders, specifically focusing on the practical aspects of imaging and routine clinical indications.
Topics: Corpus Striatum; Diagnosis, Differential; Dopamine; Dopamine Plasma Membrane Transport Proteins; Female; Humans; Male; Movement Disorders; Parkinson Disease; Parkinsonian Disorders; Prodromal Symptoms; Protein Binding; Radioisotopes; Tomography, Emission-Computed, Single-Photon
PubMed: 33237660
DOI: 10.3906/sag-2008-253 -
Reviews in Neurological Diseases 2005Parkinsonism is a common, age-related syndrome, characterized by resting tremor, bradykinesias, rigidity, and postural reflex impairment. Though Parkinsonism is not very... (Review)
Review
Parkinsonism is a common, age-related syndrome, characterized by resting tremor, bradykinesias, rigidity, and postural reflex impairment. Though Parkinsonism is not very difficult to recognize, all Parkinsonism is not created equal and it is important to distinguish among the most common identifiable syndromes. This review discusses the key clinical features of these various syndromes, including Parkinson's disease, progressive supranuclear palsy, multiple system atrophy, corticobasal ganglionic degeneration, Lewy body disease, vascular Parkinsonism, and Parkinsonism with no clear etiology. Symptomatology and diagnostic testing for each syndrome are discussed and 4 typical cases are analyzed to offer clinicians guidance in making a differential diagnosis for Parkinsonism.
Topics: Brain; Diagnosis, Differential; Humans; Lewy Body Disease; Magnetic Resonance Imaging; Multiple System Atrophy; Parkinson Disease; Parkinsonian Disorders; Predictive Value of Tests; Supranuclear Palsy, Progressive
PubMed: 16400311
DOI: No ID Found -
Neurological Sciences : Official... Dec 2021Progressive supranuclear palsy (PSP) is a progressive atypical parkinsonian syndrome characterised by postural instability, supranuclear ophthalmoplegia, dysarthria,... (Review)
Review
Progressive supranuclear palsy (PSP) is a progressive atypical parkinsonian syndrome characterised by postural instability, supranuclear ophthalmoplegia, dysarthria, dysphagia, executive dysfunction and other features. This clinical presentation represents the classic PSP-Richardson syndrome (PSP-RS). However, several other clinical subtypes have been recognised, including PSP-parkinsonism (PSP-P), probably the second most common PSP variant. Unlike PSP-RS, PSP-P often presents with an asymmetric onset, tremor and a moderate initial response to levodopa, especially during the first years of the disease, thus resembling Parkinson's disease (PD). It runs a more favourable course, but over time, PSP-P may evolve clinically into PSP-RS. Therefore, it may seem that PSP-P stands clinically between PD and PSP. There are several peculiarities that can distinguish PSP-P from these entities. As there is lack of systematic reviews on PSP-P in the literature, we decided to summarise all the necessary data about the epidemiology, clinical picture, neuroimaging, genetics and other aspects of this PSP variant in order to provide complete information for the reader.
Topics: Humans; Levodopa; Parkinson Disease; Parkinsonian Disorders; Supranuclear Palsy, Progressive; Systematic Reviews as Topic
PubMed: 34532773
DOI: 10.1007/s10072-021-05601-8