scholarly journals Charcot Spine and Parkinson’s Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Philippe Loriaut ◽  
Sylvie Rozenberg ◽  
Patrick Boyer ◽  
Benjamin Dallaudière ◽  
Frederic Khiami ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Rare Condition ◽  
Response To Treatment ◽  
Leg Pain ◽  
First Case ◽  
Circumferential Fusion ◽  
History Of ◽  
Charcot Spine ◽  
Stable Fusion

Charcot spine is rare condition whose association with Parkinson’s disease (PD) has not been reported yet. The authors reported the cases of two patients with PD who developed Charcot spine. Both patients presented with a history of back pain and bilateral radicular leg pain. They had complete clinical and radiological assessment. Lumbar spine was involved in both patients. Clinical features and response to treatment were described. In the first case, circumferential fusion and stabilization were performed on the dislocated vertebral levels. A solid and stable fusion of the spine was obtained with satisfactory clinical outcome. Surgical treatment has been recommended to the other patient. In both cases, no other neurological etiology was found to account for Charcot spine. In conclusion, Charcot spine is associated with several neurological affections but has not previously been reported in association with Parkinson’s disease.

scholarly journals Hunting for Familial Parkinson’s Disease Mutations in the Post Genome Era

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 430
Author(s):  
Steven R. Bentley ◽  
Ilaria Guella ◽  
Holly E. Sherman ◽  
Hannah M. Neuendorf ◽  
Alex M. Sykes ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Rare Variants ◽  
Strong Family History ◽  
Disease Mutations ◽  
Whole Exome ◽  
History Of ◽  
Functional Consequences ◽  
Multiplex Families

Parkinson’s disease (PD) is typically sporadic; however, multi-incident families provide a powerful platform to discover novel genetic forms of disease. Their identification supports deciphering molecular processes leading to disease and may inform of new therapeutic targets. The LRRK2 p.G2019S mutation causes PD in 42.5–68% of carriers by the age of 80 years. We hypothesise similarly intermediately penetrant mutations may present in multi-incident families with a generally strong family history of disease. We have analysed six multiplex families for missense variants using whole exome sequencing to find 32 rare heterozygous mutations shared amongst affected members. Included in these mutations was the KCNJ15 p.R28C variant, identified in five affected members of the same family, two elderly unaffected members of the same family, and two unrelated PD cases. Additionally, the SIPA1L1 p.R236Q variant was identified in three related affected members and an unrelated familial case. While the evidence presented here is not sufficient to assign causality to these rare variants, it does provide novel candidates for hypothesis testing in other modestly sized families with a strong family history. Future analysis will include characterisation of functional consequences and assessment of carriers in other familial cases.

scholarly journals Natural history of lung function over one year in patients with Parkinson's disease

2021 ◽  
Vol 182 ◽  
pp. 106396
Author(s):  
David A. Kaminsky ◽  
Donald G. Grosset ◽  
Deena M. Kegler-Ebo ◽  
Salvador Cangiamilla ◽  
Michael Klingler ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Lung Function ◽  
Natural History ◽  
History Of ◽  
One Year

Respiratory disorders of Parkinson's Disease

2021 ◽  
Author(s):  
Yasmin C Aquino ◽  
Lais M Cabral ◽  
Nicole C Miranda ◽  
Monique C Naccarato ◽  
Barbara Falquetto ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Sleep Disturbances ◽  
Respiratory Control ◽  
Muscle Rigidity ◽  
Upper Airways ◽  
Respiratory Disorders ◽  
Functional Deficits ◽  
History Of ◽  
Subject Making

Parkinson's disease (PD) is characterized by the progressive loss of dopaminergic neurons in the substantia nigra, mainly affecting people over 60 years of age. Patients develop both classic symptoms (tremors, muscle rigidity, bradykinesia and postural instability) and nonclassical symptoms (orthostatic hypotension, neuropsychiatric deficiency, sleep disturbances and respiratory disorders). Thus, patients with PD can have a significantly impaired quality of life, especially when they do not have multi-modality therapeutic follow-up. The respiratory alterations associated with this syndrome are the main cause of mortality in PD. They can be classified as peripheral when caused by disorders of the upper airways or muscles involved in breathing and as central when triggered by functional deficits of important neurons located in the brainstem and involved in respiratory control. Currently, there is little research describing these disorders, and therefore, there is no well-established knowledge about the subject, making the treatment of patients with respiratory symptoms difficult. In this review, the history of the pathology and data about the respiratory changes in PD obtained thus far will be addressed.

Family history of hand tremor in patients with early Parkinson’s disease

2021 ◽  
Vol 90 ◽  
pp. 161-164
Author(s):  
Seong-Min Choi ◽  
Soo Hyun Cho ◽  
Kyung Wook Kang ◽  
Jae-Myung Kim ◽  
Byeong C. Kim
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Hand Tremor ◽  
History Of ◽  
Early Parkinson’S Disease

scholarly journals Rural or urban living and Parkinson's disease

1996 ◽  
Vol 54 (1) ◽  
pp. 37-41 ◽  
Author(s):  
Henrique B. Ferraz ◽  
Luiz A. F. Andrade ◽  
Vítor Tumas ◽  
Leandro C. Calia ◽  
Vanderci Borges
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Rural Area ◽  
Living Environment ◽  
Response To Treatment ◽  
Urban Group ◽  
Determining Factor ◽  
Rural Group

Although the precise etiology of Parkinson's disease (PD) is as yet unknown, it appears that certain environmental factors are involved. Prior living in a rural area has been implicated as a possible risk factor for PD, particularly in the early onset type. We evaluated the role of previous living conditions in the clinical correlates and outcome characteristics of 118 PD patients. All of them were seen from January 1987 to October 1992. The Rural Group (RG) comprised 71 patients (60.2%) who had lived in the rural area for at least 10 years (mainly in early phase of life) and the Urban Group (UG) consisted of 47 patients (39.8%) who had lived their entire life in an urban environment. The average age at the beginning of the symptoms was 58.8 in the RG and 54.1 in the UG. The mixed form of the disease (tremor, rigidity and akinesia) was the most frequent in both groups. A minimum 6-month follow-up period was undertaken with 63 patients (average 20 months) and no difference in response to treatment or in progression of the illness was detected between the two groups. Our data show that the previous living environment does not appear to be a determining factor in either the clinical or outcome characteristics of PD.

scholarly journals The natural history of treated Parkinson's disease in an incident, community based cohort

2011 ◽  
Vol 82 (10) ◽  
pp. 1112-1118 ◽  
Author(s):  
J. R. Evans ◽  
S. L. Mason ◽  
C. H. Williams-Gray ◽  
T. Foltynie ◽  
C. Brayne ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Natural History ◽  
Community Based ◽  
History Of

Rapid-onset clozapine-induced hyperglycaemia: pathways of glycaemic dysregulation

2021 ◽  
Vol 14 (9) ◽  
pp. e243938
Author(s):  
Mariana Barbosa ◽  
Vera Fernandes
Keyword(s):  
Parkinson’S Disease ◽  
Metabolic Syndrome ◽  
Parkinson's Disease ◽  
Blood Glucose ◽  
Glycaemic Control ◽  
Glycated Haemoglobin ◽  
Rapid Onset ◽  
Proper Treatment ◽  
Increased Risk ◽  
History Of

Clozapine is an atypical antipsychotic used in refractory schizophrenia, also efficient in alleviating dyskinesia in Parkinson’s disease. Despite its potency, this drug is associated with severe metabolic side effects, including increased risk for diabetes. We report the case of a 45-year-old overweight woman with Parkinson’s disease who presented with rapid-onset hyperglycaemia within 2 months after starting clozapine for refractory dyskinaesia. She had a history of gestational diabetes. At presentation, her blood glucose level was 505 mg/dL and glycated haemoglobin 12.4%, with no catabolic symptoms. Clozapine was suspended and metformin was started, but adequate glycaemic control was achieved only with insulin therapy, along with exenatide and empagliflozin afterwards. We assume that clozapine acted as a trigger for rapid deterioration of glycaemic control through direct pathophysiological mechanisms, rather than an indirect slowly evolving weight gain-related metabolic syndrome pathway. Clinicians should be aware of this complication, enabling timely diagnosis and proper treatment.

Stroke Rehabilitation and Parkinson's Disease Tremor Reduction Using BCIs Combined With FES

2021 ◽  
pp. 473-491
Author(s):  
Sophie V. Adama ◽  
Martin Bogdan
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Healthy Subjects ◽  
Stroke Rehabilitation ◽  
Brain Computer Interface ◽  
Electrical Muscle Stimulation ◽  
Brain Signals ◽  
First Case ◽  
Bci System ◽  
Electrical Muscle

This article describes how Stroke and Parkinson's disease are two illnesses that particularly affect motor functions. With the advancements in technology, there is a lot of research focusing on finding solutions: to contribute to neuroplasticity in the first case, and to reduce symptoms in the second case. This manuscript describes the design of a brain-computer interface system (BCI) system paired with an electrical muscle stimulation suit for stroke rehabilitation and the reduction of tremors caused by Parkinson's disease. The idea is to strengthen the sensory-motor feedback loop, which will allow a more stabilized control of the affected extremities by taking into account the patient's motivation. To do so, his brain signals are measured to detect his intention to attempt to execute a movement, in contrast to the classical approach where the movement executions are imposed. A first feasibility study was completed. The author's next step is planning to test the system first with healthy subjects and finally with patients.

scholarly journals Parkinson’s disease determinants, prediction and gene–environment interactions in the UK Biobank

2020 ◽  
Vol 91 (10) ◽  
pp. 1046-1054 ◽  
Author(s):  
Benjamin Meir Jacobs ◽  
Daniel Belete ◽  
Jonathan Bestwick ◽  
Cornelis Blauwendraat ◽  
Sara Bandres-Ciga ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Genetic Risk ◽  
Positive Family History ◽  
Risk Scores ◽  
Uk Biobank ◽  
Gene Environment ◽  
History Of

ObjectiveTo systematically investigate the association of environmental risk factors and prodromal features with incident Parkinson’s disease (PD) diagnosis and the interaction of genetic risk with these factors. To evaluate whether existing risk prediction algorithms are improved by the inclusion of genetic risk scores.MethodsWe identified individuals with an incident diagnosis of PD (n=1276) and controls (n=500 406) in UK Biobank. We determined the association of risk factors with incident PD using adjusted logistic regression models. We constructed polygenic risk scores (PRSs) using external weights and selected the best PRS from a subset of the cohort (30%). The PRS was used in a separate testing set (70%) to examine gene–environment interactions and compare predictive models for PD.ResultsStrong evidence of association (false discovery rate <0.05) was found between PD and a positive family history of PD, a positive family history of dementia, non-smoking, low alcohol consumption, depression, daytime somnolence, epilepsy and earlier menarche. Individuals with the highest 10% of PRSs had increased risk of PD (OR 3.37, 95% CI 2.41 to 4.70) compared with the lowest risk decile. A higher PRS was associated with earlier age at PD diagnosis and inclusion of the PRS in the PREDICT-PD algorithm led to a modest improvement in model performance. We found evidence of an interaction between the PRS and diabetes.InterpretationHere, we used UK Biobank data to reproduce several well-known associations with PD, to demonstrate the validity of a PRS and to demonstrate a novel gene–environment interaction, whereby the effect of diabetes on PD risk appears to depend on background genetic risk for PD.

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