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The American Journal of Medicine Jul 2019Parkinson's disease is a progressive neurodegenerative disease characterized by tremor and bradykinesia and is a common neurologic ailment. Male sex and advancing age... (Review)
Review
Parkinson's disease is a progressive neurodegenerative disease characterized by tremor and bradykinesia and is a common neurologic ailment. Male sex and advancing age are independent risk factors and, as the population ages, is taking an increasing toll on productivity and medical resources. There are a number of other extrapyramidal conditions that can make the diagnosis challenging. Unlike other neurodegenerative diseases, idiopathic Parkinson's disease has effective treatments that mitigate symptoms. Medications can improve day-to-day function and, in cases where medication does not give a sustained benefit or has significant side effects, treatments like deep brain stimulation result in improved quality of life.
Topics: Antiparkinson Agents; Diagnosis, Differential; Humans; Parkinson Disease; Parkinsonian Disorders
PubMed: 30890425
DOI: 10.1016/j.amjmed.2019.03.001 -
Journal of Parkinson's Disease 2022Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before the age of 40 or 50 years, can be the main clinical presentation of a variety... (Review)
Review
Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that are important to differentiate. Although rarer than classical late-onset Parkinson's disease (PD) and not infrequently overlapping with forms of juvenile onset PD, a correct diagnosis of the specific cause of EO parkinsonism is critical for offering appropriate counseling to patients, for family and work planning, and to select the most appropriate symptomatic or etiopathogenic treatments. Clinical features, radiological and laboratory findings are crucial for guiding the differential diagnosis. Here we summarize the most important conditions associated with primary and secondary EO parkinsonism. We also proposed a practical approach based on the current literature and expert opinion to help movement disorders specialists and neurologists navigate this complex and challenging landscape.
Topics: Diagnosis, Differential; Humans; Middle Aged; Neurologists; Parkinson Disease; Parkinsonian Disorders
PubMed: 34569973
DOI: 10.3233/JPD-212815 -
RoFo : Fortschritte Auf Dem Gebiete Der... Dec 2021Diagnosis of Parkinson's disease and atypical parkinsonism is based on clinical evaluation of the patient's symptoms and on magnetic resonance imaging (MRI) of the... (Review)
Review
BACKGROUND
Diagnosis of Parkinson's disease and atypical parkinsonism is based on clinical evaluation of the patient's symptoms and on magnetic resonance imaging (MRI) of the brain, which can be supplemented by nuclear medicine techniques. MRI plays a leading role in the differentiation between Parkinson's disease and atypical parkinsonism. While atypical parkinsonism is characterized by relatively specific MRI signs, imaging of Parkinson's disease previously lacked such signs. However, high-field MRI and new optimized MRI sequences now make it possible to define specific MRI signs of Parkinson's disease and have significant potential regarding differentiated imaging, early diagnosis, and imaging of disease progression.
METHODS
PubMed was selectively searched for literature regarding the definition and discussion of specific MRI signs of Parkinson's disease, as well as the most common types of atypical parkinsonism with a leading motor component. No time frame was set, but the search was particularly focused on current literature.
RESULTS
This review article discusses the different MRI signs of Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. The pathogenesis of the MRI signs is described, and imaging examples are given. The technical aspects of image acquisition are briefly defined, and the different signs are discussed and compared with regard to their diagnostic significance according to current literature.
CONCLUSION
The MRI signs of Parkinson's disease, which can be defined with high-field MRI and new optimized MRI sequences, enable differentiated structural image interpretation and consecutive diagnostic workup. Despite the fact that the signs are in need of further validation by bigger studies, they have the potential to achieve significant diagnostic relevance regarding the imaging of Parkinson's disease and atypical parkinsonism.
KEY POINTS
· High-field MRI and specialized sequences make it possible to define specific MRI signs for neurodegenerative disorders. · Cerebral alterations can be detected in prodromal stages of Parkinson's disease. · The combination of specific MRI signs makes it possible to differentiate between Parkinson's disease and atypical parkinsonism.
CITATION FORMAT
· Aludin S, Schmill LA. MRI Signs of Parkinson's Disease and Atypical Parkinsonism. Fortschr Röntgenstr 2021; 193: 1403 - 1410.
Topics: Humans; Magnetic Resonance Imaging; Multiple System Atrophy; Parkinson Disease; Parkinsonian Disorders; Supranuclear Palsy, Progressive
PubMed: 34034347
DOI: 10.1055/a-1460-8795 -
Deutsches Arzteblatt International Feb 2016Aside from idiopathic Parkinson syndrome (Parkinson's disease), there are a number of other, so-called atypical parkinsonian syndromes: dementia with Lewy bodies (DLB),... (Review)
Review
BACKGROUND
Aside from idiopathic Parkinson syndrome (Parkinson's disease), there are a number of other, so-called atypical parkinsonian syndromes: dementia with Lewy bodies (DLB), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). DLB is a common disease, with a prevalence of 0.4% (400 cases per 100 000 persons) in the elderly; MSA and PSP both have a prevalence of 5 to 10 per 100 000 persons, while the prevalence of CBD is about 1 per 100 000.
METHODS
This review is based on pertinent publications retrieved by a selective literature search.
RESULTS
The atypical parkinsonian syndromes are synucleinopathies and tauopathies, i.e., disorders characterized by the abnormal deposition of the proteins α-synuclein and tau. The site of deposition is correlated with the clinical features. In DLB, synuclein is mainly deposited in neocortical neurons, with some brain stem involvement as well. The main clinical features are dementia and, later on, parkinsonism. In MSA, synuclein is deposited in oligodendrocytes, mainly in the cerebellum but also in the brain stem; the main clinical feature is autonomic dysfunction combined with parkinsonism or cerebellar ataxia. Synucleinopathies often impair REM (rapid eye movement) sleep. PSP and CBD, on the other hand, are primary tauopathies. PSP usually causes predominantly supranuclear vertical gaze palsy and early postural instability with falls, less commonly parkinsonism (PSP-P) or frontotemporal dementia (PSP-FTD) as its most prominent feature. CBD typically manifests itself as markedly asymmetrical parkinsonism with apraxia or cortical sensory disturbance. At present, there is no accepted causal treatment for any of these disorders; the available symptomatic treatments are of limited efficacy and are supported only by low-level evidence.
CONCLUSION
Causal treatments for neurodegenerative diseases are now being developed and tested, and thus a molecular diagnosis is desirable. This will require the cooperation of primary care physicians with specialized centers.
Topics: Diagnosis, Differential; Evidence-Based Medicine; Humans; Parkinson Disease; Parkinsonian Disorders; Treatment Outcome
PubMed: 26900156
DOI: 10.3238/arztebl.2016.0061 -
Journal of the Neurological Sciences Feb 2022Ataxia is not a common feature in Parkinson's disease. Nevertheless, some rare forms of parkinsonism have ataxia as one of the main features in their clinical picture,... (Review)
Review
Ataxia is not a common feature in Parkinson's disease. Nevertheless, some rare forms of parkinsonism have ataxia as one of the main features in their clinical picture, especially those with juvenile or early-onset. On the other side, in cerebellar degenerative diseases, parkinsonism might accompany the typical symptoms and even become predominant in some cases. Many disorders involving different neurological systems present with a movement phenomenology reflecting the underlying pattern of pathological involvement, such as neurodegeneration with brain iron accumulation, neurodegeneration associated with calcium deposition, and metabolic and mitochondrial disorders. The prototype of sporadic disorders that present with a constellation of symptoms due to the involvement of multiple Central Nervous System regions is multiple system atrophy, whose motor symptoms at onset can be cerebellar ataxia or parkinsonism. Clinical syndromes encompassing both parkinsonian and cerebellar features might represent a diagnostic challenge for neurologists. Recognizing acquired and potentially treatable causes responsible for complex movement disorders is of paramount importance, since an early diagnosis is essential to prevent permanent consequences. The present review aims to provide a pragmatic overview of the most common diseases characterized by the coexistence of cerebellar and parkinsonism features and suggests a possible diagnostic approach for both inherited and sporadic disorders. This article is part of the Special Issue "Parkinsonism across the spectrum of movement disorders and beyond" edited by Joseph Jankovic, Daniel D. Truong and Matteo Bologna.
Topics: Ataxia; Cerebellar Ataxia; Humans; Multiple System Atrophy; Parkinson Disease; Parkinsonian Disorders
PubMed: 34711421
DOI: 10.1016/j.jns.2021.120020 -
Journal of the Neurological Sciences Feb 2022The aim of the present review is to summarize literature data on dementia in parkinsonian disorders. Cognitive decline and the gradual development of dementia are... (Review)
Review
The aim of the present review is to summarize literature data on dementia in parkinsonian disorders. Cognitive decline and the gradual development of dementia are considered to be key features in the majority of parkinsonian conditions. The burden of dementia in everyday life of parkinsonian patients and their caregivers is vast and can be even more challenging to handle than the motor component of the disease. Common pathogenetic mechanisms involve the aggregation and spreading of abnormal proteins like alpha-synuclein, tau or amyloid in cortical and subcortical regions with subsequent dysregulation of multiple neurotransmitter systems. The degree of cognitive deterioration in these disorders is variable and ranges from mild cognitive impairment to severe cognitive dysfunction. There is also variation in the number and type of affected cognitive domains which can involve either a single domain like executive or visuospatial function or multiple ones. Novel genetic, biological fluid or imaging biomarkers appear promising in facilitating the diagnosis and staging of dementia in parkinsonian conditions. A significant part of current research in Parkinson's disease and other parkinsonian syndromes is targeted towards the cognitive aspects of these disorders. Stabilization or amelioration of cognitive outcomes represents a primary endpoint in many ongoing clinical trials for novel disease modifying treatments in this field. This article is part of the Special Issue "Parkinsonism across the spectrum of movement disorders and beyond" edited by Joseph Jankovic, Daniel D. Truong and Matteo Bologna.
Topics: Biomarkers; Cognition Disorders; Humans; Lewy Body Disease; Parkinson Disease; Parkinsonian Disorders
PubMed: 34642023
DOI: 10.1016/j.jns.2021.120015 -
Parkinsonism & Related Disorders Aug 2014Drug-induced parkinsonism is the second most common cause of parkinsonism after Parkinson's disease and their distinction has crucial implications in terms of management... (Review)
Review
Drug-induced parkinsonism is the second most common cause of parkinsonism after Parkinson's disease and their distinction has crucial implications in terms of management and prognosis. However, differentiating between these conditions can be challenging on a clinical ground, especially in the early stages. We therefore performed a review to ascertain whether assessment of non-motor symptoms, or use of ancillary investigations, namely dopamine transporter imaging, transcranial sonography of the substantia nigra, and scintigraphy for myocardial sympathetic innervation, can be recommended to distinguish between these conditions. Among non-motor symptoms, there is evidence that hyposmia can differentiate between patients with "pure" drug-induced parkinsonism and those with degenerative parkinsonism unmasked by an anti-dopaminergic drug. However, several issues, including smoking history and cognitive functions, can influence smell function assessment. Higher diagnostic accuracy has been demonstrated for dopamine transporter imaging. Finally, preliminary evidence exists for sympathetic cardiac scintigraphy to predict dopaminergic pathway abnormalities and to differentiate between drug-induced parkinsonism and Parkinson's disease. Imaging of the dopaminergic pathway seems to be the only, reasonably available, technique to aid the differential diagnosis between drug-induced parkinsonism and Parkinson's disease.
Topics: Diagnosis, Differential; Humans; Parkinson Disease; Parkinsonian Disorders
PubMed: 24935237
DOI: 10.1016/j.parkreldis.2014.05.011 -
Current Neurology and Neuroscience... Sep 2017This article reviews was to review genes where putative or confirmed pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified since 2012,... (Review)
Review
PURPOSE OF REVIEW
This article reviews was to review genes where putative or confirmed pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified since 2012, and summarizes the clinical and pathological picture of the associated disease subtypes.
RECENT FINDINGS
Newly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a disease-causing role is not conclusive, and further genetic and functional studies are warranted. RIC3 mutations have been reported from one family but not yet encountered in other patients. New genes for autosomal recessive disease include SYNJ1, DNAJC6, VPS13C, and PTRHD1. Deletions of a region on chromosome 22 (22q11.2del) are also associated with early-onset PD, but the mode of inheritance and the underlying causative gene remain unclear. PODXL mutations were reported in autosomal recessive PD, but their roles remain to be confirmed. Mutations in RAB39B cause an X-linked Parkinsonian disorder. Mutations in the new dominant PD genes have generally been found in medium- to late-onset Parkinson's disease. Many mutations in the new recessive and X-chromosomal genes cause severe atypical juvenile Parkinsonism, but less devastating mutations in these genes may cause PD.
Topics: DNA-Binding Proteins; Genetic Association Studies; Humans; Intracellular Signaling Peptides and Proteins; Mitochondrial Proteins; Mutation; Parkinson Disease; Parkinsonian Disorders; Transcription Factors; Ubiquitin-Protein Ligases
PubMed: 28733970
DOI: 10.1007/s11910-017-0780-8 -
Tidsskrift For Den Norske Laegeforening... Feb 2017
Topics: Humans; Parkinson Disease; Parkinsonian Disorders; Terminology as Topic
PubMed: 28225240
DOI: 10.4045/tidsskr.16.0915 -
Tidsskrift For Den Norske Laegeforening... May 2023Parkinsonism can have many causes, among them cerebrovascular disease. Vascular parkinsonism can be caused by infarction or haemorrhage in the nigrostriatal pathway,...
Parkinsonism can have many causes, among them cerebrovascular disease. Vascular parkinsonism can be caused by infarction or haemorrhage in the nigrostriatal pathway, resulting in hemiparkinsonism, or by widespread small vessel disease in the white matter, leading to the gradual development of bilateral symptoms in the lower extremities. Compared to patients with Parkinson's disease, individuals with vascular parkinsonism have earlier onset of gait disturbance, are more likely to have urinary incontinence and cognitive impairment, and have poorer treatment response and prognosis; however, they are less likely to have tremor. With its unclear pathophysiology, varying clinical picture and overlap with other diseases, vascular parkinsonism remains a little known and somewhat controversial diagnosis.
Topics: Humans; Parkinson Disease; Parkinsonian Disorders; Cerebrovascular Disorders; Vascular Diseases; Tremor
PubMed: 37158514
DOI: 10.4045/tidsskr.22.0539