scholarly journals 36 Too Scared to Blink: Pseudoparkinsonism due to Nyctophobia

CNS Spectrums ◽  
2019 ◽  
Vol 24 (1) ◽  
pp. 194-195
Author(s):  
Khurram Janjua ◽  
Alan R. Hirsch
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Visual Space ◽  
Eyes Closed ◽  
Real People ◽  
Palmar Erythema ◽  
Normal Tone ◽  
Abductor Digiti Minimi ◽  
History Of ◽  
Blink Frequency

AbstractIntroductionA hallmark of Parkinson’s disease is facial akinesia with decrease in blink frequency (Karson, 1984). A markedly decreased blink frequency from nyctophobia, a fear of the dark, has not heretofore been reported.MethodCase Study: A 26-year-old right handed male presented with a 20-year history of phantasmagoria. Visual hallucinations of strangers appeared several to a hundred times a day, seconds to minutes in duration. These morbid images were horrific, of dead people or ghosts, suddenly appearing in his visual space, actively attacking real people. Examples included a little girl, decapitated, cradling her head in her arm or Freddy Krueger like apparitions, shooting, stabbing, strangling or maiming actual people who were within the patient’s visual field. He was able to differentiate between the hallucinations and real people, either from the context (a non hallucination would not be murdering someone else), or he would wait for the hallucinations to vanish, allowing him to then interact with the person who is actually there. The images were so disturbing to him that he fled his home state to run away from the hallucinations, but to his chagrin, they persisted. There were diurnal variations to his hallucinations, which were more frequent at night, or when he closed his eyes, and the fear of these has induced nyctophobia. In order to avoid these, he attempted to curtail closing his eyes or blinking. He had been treated with 9 different psychotropic medications, which had no effect on his hallucinations. Phenytoin was begun, and once therapeutic levels were achieved, all of his hallucinations resolved, as did his nyctophobia, with return to normal blink frequency.ResultsPhysical examination: Bilateral palmar erythema. Facial expression with decreased blink frequency, approximately 1/per minute, but not otherwise hypomimetic. Neurological examination: Cranial Nerve (CN) Examination: CN III, IV and VI: bilateral ptosis. Motor Examination: Normal tone without cogwheel rigidity. No bradykinesia. Drift Testing: Right upward-outward drift, right cerebellar spooning, and Abductor Digiti Minimi sign. Gait: Normal without instability or retropulsion. Reflexes: 1+ throughout. Hoffman Reflex: positive bilaterally. Other: Magnetic Resonance Imaging of brain with/without infusion: Normal. Five-day Electroencephalogram: Temporal Lobe Status Epilepticus with bilateral foci.DiscussionIn this individual, the sheer terror of phantasmagoria with his eyes closed, forced him to maintain them in the open position as long as possible, reducing his blink frequency to once a minute or less. The return to a normal rate of blink frequency with treatment using phenytoin, with resolution of his horrific hallucinations, further validates this as the origin for his infrequent blinking. In those with low nictation, without other manifestations of Parkinson’s disease, query as to volitional inhibition of blink frequency and nyctophobia is warranted.

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 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.

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.

Psychotic and Depressive Symptoms in Parkinson's Disease a Study of the Growth Hormone Response to Apomorphine

1995 ◽  
Vol 167 (4) ◽  
pp. 522-526 ◽  
Author(s):  
John D. C. Mellers ◽  
Niall P. Quinn ◽  
Maria A. Ron
Keyword(s):  
Parkinson’S Disease ◽  
Growth Hormone ◽  
Parkinson's Disease ◽  
Depressive Symptomatology ◽  
Past History ◽  
Visual Hallucinations ◽  
Hormone Response ◽  
Receptor Sensitivity ◽  
Dopaminergic Mechanisms ◽  
History Of

BackgroundThe growth hormone (GH) response to apomorphine, thought to reflect central dopaminergic receptor sensitivity, has been reported as enhanced in acute schizophrenia. We investigated this response in relation to the psychotic episodes associated with Parkinson's disease (PD).MethodThe GH response to apomorphine was measured in three groups of patients with Parkinson's disease: those currently psychotic (n = 9), those with a past history of psychosis (n = 7) and those who had never been psychotic (n = 8).ResultsApomorphine-induced GH response was not related to psychosis but was unexpectedly associated with measures of depression.ConclusionsVisual hallucinations were a prominent feature in the psychotic patients and the atypical nature of these psychoses might explain why we found no evidence of dopaminergic sensitivity. Serotonergic dysfunction would be in keeping with this. Dopaminergic mechanisms may contribute to the minor depressive symptomatology seen in PD.

scholarly journals Longitudinal prediction of falls and near falls frequencies in Parkinson’s disease: a prospective cohort study

2020 ◽  
Author(s):  
Beata Lindholm ◽  
Christina Brogårdh ◽  
Per Odin ◽  
Peter Hagell
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Prospective Cohort ◽  
Prediction Models ◽  
Evidence Base ◽  
History Of ◽  
Short And Long Term ◽  
Near Falls ◽  
Short Time

Abstract Introduction and objective Several prediction models for falls/near falls in Parkinson’s disease (PD) have been proposed. However, longitudinal predictors of frequency of falls/near falls are poorly investigated. Therefore, we aimed to identify short- and long-term predictors of the number of falls/near falls in PD. Methods A prospective cohort of 58 persons with PD was assessed at baseline (mean age and PD duration, 65 and 3.2 years, respectively) and 3.5 years later. Potential predictors were history of falls and near falls, comfortable gait speed, freezing of gate, dyskinesia, retropulsion, tandem gait (TG), pain, and cognition (Mini-Mental State Exam, MMSE). After each assessment, the participants registered a number of falls/near falls during the following 6 months. Multivariate Poisson regression was used to identify short- and long-term predictors of a number of falls/near falls. Results Baseline median (q1–q3) motor (UPDRS) and MMSE scores were 10 (6.75–14) and 28.5 (27–29), respectively. History of falls was the only significant short-time predictor [incidence rate ratio (IRR), 15.17] for the number of falls/near falls during 6 months following baseline. Abnormal TG (IRR, 3.77) and lower MMSE scores (IRR, 1.17) were short-term predictors 3.5 years later. Abnormal TG (IRR, 7.79) and lower MMSE scores (IRR, 1.49) at baseline were long-term predictors of the number of falls/near falls 3.5 years later. Conclusion Abnormal TG and MMSE scores predict the number of falls/near falls in short and long term, and may be indicative of disease progression. Our observations provide important additions to the evidence base for clinical fall prediction in PD.

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