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Hereditary Late-Onset Parkinson Disease

LOPD


Presentation

  • PURPOSE: To present a case of cytomegalovirus (CMV) retinitis associated with occlusive vasculopathy presenting as sudden unilateral loss of vision in a human immunodeficiency virus-negative elderly man.[ncbi.nlm.nih.gov]
  • It typically presents in early childhood, but may occasionally present in adulthood. Acute encephalopathy, seizures, psychomotor retardation, hypotonia, spasticity, myopathy, and dysarthria may also be seen.[movementdisorders.org]
  • At the present time, it appears that these are two distinct diseases that are caused by different genes that just happen to be located very closely to one another in our genome.[ataxiacenter.umn.edu]
  • It is thought that more than one factor (like environmental toxins) needs to also be present to develop the disease.[nwpf.org]
  • 기타언어초록 A 48-year-old man presented with a dermatofibrosarcoma protuberans (DFSP) of the scalp associated with local recurrence.[newnonmun.com]
Falling
  • Late-Onset Parkinson Disease: 60 33 (show all 35) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 diplopia 60 33 frequent (33%) Frequent (79-30%) HP:0000651 2 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015 3 frequent falls[malacards.org]
  • Avoiding fall s In advanced stage of illness, there is always a risk of getting injured as a result of sudden loss of balance. Few precautions can help a great deal from losing balance and preventing falls.[newhealthadvisor.com]
  • […] tremor) slow movement stiff and inflexible muscles A person with Parkinson's disease can also experience a wide range of other physical and psychological symptoms, including: depression and anxiety balance problems – this may increase the chance of a fall[nhs.uk]
  • The most severe manifestations of PD symptoms are characterized by stage V, where patients are confined to a bed or wheelchair unless otherwise aided and have the tendency to fall when standing or turning.[soc.ucsb.edu]
  • However, people with MSA can also develop symptoms that are unusual in early Parkinson’s, such as unsteadiness, falls, bladder problems and dizziness.[parkinsons.org.uk]
Fatigue
  • Extreme fatigue is always present, and even the smallest physical effort (or a mental stress) turn my morning leg tremors into full body uncontrollable twitching and bending...[caring.com]
  • The symptoms of dystonia typically increase during stress, emotional upset or fatigue, and decrease during rest and sleep. Many people living with dystonia can temporarily suppress their symptoms by using “sensory tricks”.[dystonia-parkinsons.org]
  • Symptoms of Hemochromatosis Symptoms of Hemochromatosis Symptoms of Hemochromatosis Chronic fatigue and joint pain are the most common complaints of people with hemochromatosis.[hemochromatosis.org]
  • […] lethargy, withdrawal, loss of interest in activities once enjoyed, insomnia or sleeping too much, weight gain or loss Anxiety : Excessive worry or fear that disrupts everyday activities or relationships; physical signs such as restlessness or extreme fatigue[emedicinehealth.com]
  • These include paroxysmal non-kinesigenic dyskinesia (paroxysmal dystonic choreoathetosis; DYT8), which is precipitated by alcohol, caffeine, stress, extremes of temperature, fatigue, or fasting; paroxysmal choreoathetosis with spasticity (DYT9), which[movementdisorders.org]
Hyposmia
  • Description HPO Frequency Orphanet Frequency HPO Source Accession 1 diplopia 60 33 frequent (33%) Frequent (79-30%) HP:0000651 2 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015 3 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359 4 hyposmia[malacards.org]
Dysphagia
  • Late-Onset Parkinson Disease Human phenotypes related to Hereditary Late-Onset Parkinson Disease: 60 33 (show all 35) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 diplopia 60 33 frequent (33%) Frequent (79-30%) HP:0000651 2 dysphagia[malacards.org]
  • The cause of death in MSA is usually related to dysphagia, respiratory problems, or cardiovascular complications of dysautonomia. There is a very limited arsenal of medications that can be used to treat this disease.[touchneurology.com]
Orthostatic Hypotension
  • hypotension due to autonomic dysfunction 60 33 occasional (7.5%) Occasional (29-5%) HP:0004926 22 apathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000741 23 hypomimic face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000338 24 postural instability[malacards.org]
  • Patients suffering from MSA often suffer from orthostatic hypotension that can be debilitating, urinary retention requiring catheterization, and various breathing problems.[touchneurology.com]
  • Orthostatic hypotension can be improved by prescribing drugs that raise blood pressure. As MSA progresses, the benefits of medication lessen.[aans.org]
  • hypotension (low blood pressure upon standing) are the most recognizable precursors to the onset of muscle-related complications. 4,15 The initial motor-related symptoms of PD may be subtle and occur gradually.[soc.ucsb.edu]
Muscle Spasm
  • Occasional (29-5%) HP:0031435 27 lewy bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0100315 28 gliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002171 29 low frustration tolerance 60 33 occasional (7.5%) Occasional (29-5%) HP:0000744 30 muscle[malacards.org]
  • Dystonia is a neurological muscle disorder characterized by involuntary muscle spasms. Dystonia results from abnormal functioning of the basal ganglia, a deep part of the brain which helps control coordination of movement.[aans.org]
Muscle Cramp
  • cramps 60 Occasional (29-5%) 34 mental deterioration 60 Occasional (29-5%) 35 parkinsonism 60 Obligate (100%) MGI Mouse Phenotypes related to Hereditary Late-Onset Parkinson Disease: 47 # Description MGI Source Accession Score Top Affiliating Genes 1[malacards.org]
Myalgia
  • In the immunocompetent pediatric or adult host, infection is generally asymptomatic or limited to a mononucleosis-like syndrome with signs and symptoms including fever, myalgia, cervical lymphadenopathy, and mild hepatitis.[emedicine.medscape.com]
Diplopia
  • Late-Onset Parkinson Disease Symptoms & Phenotypes for Hereditary Late-Onset Parkinson Disease Human phenotypes related to Hereditary Late-Onset Parkinson Disease: 60 33 (show all 35) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 diplopia[malacards.org]
Impulsivity
  • (7.5%) Occasional (29-5%) HP:0002063 17 agitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0000713 18 bradykinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002067 19 shuffling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002362 20 impulsivity[malacards.org]
  • Impulsive and compulsive behaviour can be a side-effects and are more common with this group of medicines than with levodopa.[patient.info]
  • It sends electrical impulses into the brain to help control tremors and twitching movements. Some people may need surgery to manage Parkinson disease symptoms. Surgery may involve destroying small areas of brain tissue responsible for the symptoms.[hopkinsmedicine.org]
  • Electrical impulses are sent through an extension to stimulate the targeted cerebral regions that control abnormal nerve impulses. These impulses effectively reduce tremors and motor-related symptoms.[soc.ucsb.edu]
  • The neurostimulator sends electrical impulses along the wire to the thalamus, interrupting signals that cause tremor.[aans.org]
Visual Hallucination
  • hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002367 26 monotonic speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0031435 27 lewy bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0100315 28 gliosis 60 33 occasional (7.5%) Occasional[malacards.org]
  • Visual hallucinations are also quite common reported to occur in 6-75% of patients (most reports suggest an incidence of 25-50% ), more frequently in patients treated with dopaminergic medication 9,10.[radiopaedia.org]
  • Some affected individuals develop psychiatric conditions such as depression and visual hallucinations.[ghr.nlm.nih.gov]
Postural Instability
  • instability 60 33 occasional (7.5%) Occasional (29-5%) HP:0002172 25 visual hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002367 26 monotonic speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0031435 27 lewy bodies 60 33 occasional[malacards.org]
  • The four main symptoms are tremors of the hands, arms, legs, jaw, or head, specially at rest; rigidity, or stiffness; bradykinesia, or slow movement; and postural instability or inability to find balance.[rarediseases.info.nih.gov]
  • These symptoms are tremors, rigidity, bradykinesia, and postural instability.[soc.ucsb.edu]
  • Postural instability Impaired balance and the tendency to fall without explanation, usually when pivoting; a common symptom in the later stages of Parkinson’s. or impaired balance and coordination People with YOPD may experience the same non-motor symptoms[parkinson.org]
  • A triad of features classically characterizes Parkinson disease: resting tremor rigidity bradykinesia (postural instability: sometimes added as a fourth cardinal feature 3 ) Dementia can be a late feature.[radiopaedia.org]
Resting Tremor
  • tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002322 8 chronic constipation 60 33 frequent (33%) Frequent (79-30%) HP:0012450 9 spastic/hyperactive bladder 60 33 frequent (33%) Frequent (79-30%) HP:0005340 10 depressivity 60 33 occasional (7.5%)[malacards.org]
  • A triad of features classically characterizes Parkinson disease: resting tremor rigidity bradykinesia (postural instability: sometimes added as a fourth cardinal feature 3 ) Dementia can be a late feature.[radiopaedia.org]
  • Symptoms of the disease include resting tremor, bradykinesia and rigidity.[tocris.com]
  • PD is characterized by a wide spectrum of progressive motor features including bradykinesia (reduced motor activity), resting tremor, skeletal muscle rigidity, and, later in the course of the disorder, postural instability.[invitae.com]
  • It can be distinguished from Parkinson’s disease by 1) its low amplitude and higher frequency 2) Essential tremor manifests during posture and action as opposed to rest tremor of Parkinson’s disease 3) Lack of slowness of movement and rigidity in Essential[my.clevelandclinic.org]
Sleep Disturbance
  • disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360 12 dyskinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100660 13 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824 14 dystonia 60 33 occasional (7.5%) Occasional[malacards.org]
  • Sleep disturbances Changes in memory and thinking Constipation or urinary problems How Is Young-Onset PD Different? People diagnosed with YOPD have a more frequent family history of Parkinson’s disease and a longer survival.[parkinson.org]
  • Depression, anxiety, personality and behavior changes, sleep disturbances, and sexual problems are commonly associated with Parkinson's disease.[emedicinehealth.com]
Akinesia
  • 0002015 3 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359 4 hyposmia 60 33 frequent (33%) Frequent (79-30%) HP:0004409 5 parkinsonism with favorable response to dopaminergic medication 60 33 frequent (33%) Frequent (79-30%) HP:0002548 6 akinesia[malacards.org]
  • Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability).[ghr.nlm.nih.gov]
Agitation
  • ) Occasional (29-5%) HP:0001824 14 dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001332 15 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120 16 rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002063 17 agitation[malacards.org]
  • Hallucinations, delusions, agitation, and manic states can occur as adverse effects of drug treatment of Parkinson's disease, this might complicate the diagnosis of Parkinson's dementia.[emedicinehealth.com]

Workup

  • An extensive diagnostic workup was performed, including fluorescein angiography, serologic testing for infectious etiologies including syphilis and tuberculosis and a temporal artery biopsy.[ncbi.nlm.nih.gov]
Gliosis
  • Occasional (29-5%) HP:0002172 25 visual hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002367 26 monotonic speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0031435 27 lewy bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0100315 28 gliosis[malacards.org]
  • Reported postmortem examinations indicate that the substantia nigra shows neuronal loss and gliosis, however, it is frequently lacking Lewy bodies.[ncbi.nlm.nih.gov]

Treatment

  • The goal of treatment is to stabilize or restore vision and prevent blindness. Long-term treatment is often needed. Medicines may be given by mouth (orally), through a vein (intravenously), or injected directly into the eye (intravitreously).[medlineplus.gov]
  • We believe that systemic treatment with oral valganciclovir should be used routinely as the primary treatment strategy because (1) systemic treatment of CMV retinitis reduces extraocular CMV disease [ 39 ]; (2) systemic treatment reduces mortality [ 40[journals.plos.org]
  • Patients assigned to immediate treatment underwent surgery to implant the ganciclovir device within 48 hours of enrollment and baseline photographs.[clinicaltrials.gov]
  • Detoxification of medication-overuse headache by a multidisciplinary treatment programme is highly effective: a comparison of two consecutive treatment methods in an open-label design.[richtlijnendatabase.nl]
  • Relevance to Diagnosis/Treatment of Parkinson’s Disease: LRRK2 inhibitors may provide the first direct treatment or cure for PD.[michaeljfox.org]

Prognosis

  • Prognosis The prognosis was almost uniformly fatal prior to the advent of HAART. Now it carries a much better prognosis, but even with HAART and anti-CMV therapy, mortality is still increased after diagnosis of CMV retinitis.[eyewiki.aao.org]
  • Deep brain stimulation (DBS) a surgical procedure where electrodes are implanted into the brain may be useful for some people. [3] [2] Prognosis varies, and while some people become disabled, others will have only minor movement problems. [2] Studies[rarediseases.info.nih.gov]
  • Parkinson's disease dementia prognosis Persons with Parkinson's disease and dementia have a poorer prognosis than persons with Parkinson's disease without dementia.[emedicinehealth.com]
  • Treatment and prognosis The mainstay of treatment is medical. In patients with refractory symptoms, deep brain stimulation may be useful 15.[radiopaedia.org]
  • […] retinitis. 9 38 1323624 1992 3 A lymphoma patient with Cytomegalovirus retinitis and post-autologous hematopoietic cell transplantation immune reconstitution uveitis: A case report and review of the literature. 38 Fuller R...Jacobs SE 31033155 2019 4 Visual prognosis[malacards.org]

Etiology

  • Both genetic and environmental etiologies share a common pathogenic pathway. Pharmacological Intervention The main motor features that are characteristic of PD are mainly due to the loss of the nigrostriatal dopaminergic pathway.[tocris.com]
  • An extensive diagnostic workup was performed, including fluorescein angiography, serologic testing for infectious etiologies including syphilis and tuberculosis and a temporal artery biopsy.[ncbi.nlm.nih.gov]
  • Therapeutics aimed at modifying and effecting Lrrk2 or alpha-synuclein are etiologically sensible and rational and there can be little doubt that more rational drug design against etiologic targets will be forthcoming; however, unfortunately, even effective[content.iospress.com]
  • Rarely, episodic chorea may be psychogenic in etiology. Medical history The medical history may reveal potential causes or associations of chorea.[movementdisorders.org]
  • All such cases are referred to as sporadic as the primary etiology remains unclear. However, some cases are familial as well (i.e. caused by mutation of genes such as, PARK2, PARK7, PINK1, LRRK2, OR SNCA genes).[newhealthadvisor.com]

Epidemiology

  • Because of its rarity, few studies on the epidemiology of DFSP in Asians have been reported.[s-space.snu.ac.kr]
  • Epidemiology of the ocular complications of HIV infection in Chiang Mai. J Med Assoc Thai. 2003;86(5):399-40612859094 PubMed Google Scholar 4.[jamanetwork.com]
  • Kestelyn P (1999) The epidemiology of CMV in Africa. Ocul Immunol Inflamm 7: 173–177. View Article Google Scholar 16.[journals.plos.org]
  • Epidemiology Frequency United States Several epidemiologic studies in the United States, conducted from 1945–1980, show consistent statistics stating that approximately 30,000 people have HD.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • In this short review, we will discuss advances in the knowledge of genetics in MSA and how this has furthered our understanding of the pathophysiology of the disease.[touchneurology.com]
  • Conclusion Chorea can be due to a multitude of disorders with a wide variety of pathophysiologies.[movementdisorders.org]
  • Clinical features, pathophysiology, and treatment of medication-overuse headache. Lancet Neurol. 2010;9(4):391-401. 11 - Neurologie NVv.[richtlijnendatabase.nl]
  • Pathophysiology CMV reaches the retina hematogenously and infects the vascular endothelium which then spreads to the retinal cells. Impaired CD4 cell function permits uncontrolled CMV replication.[eyewiki.aao.org]
  • Pathophysiology Huntington disease (HD) is associated with an excessive sequence of CAG repeats in the 5' end of HTT (alias IT15- interesting transcript number 15), a 350-kD gene located on the short arm of chromosome 4. [2] Healthy individuals may have[emedicine.medscape.com]

Prevention

  • The vitamin also prevented the flies from losing neurons.[sciencedaily.com]
  • If you had CMV retinitis in the past, ask your provider if you need treatment to prevent its return. Cytomegalovirus retinitis Crumpacker CS. Cytomegalovirus (CMV). In: Bennett JE, Dolin R, Blaser MJ, eds.[medlineplus.gov]
  • Can Parkinson disease be prevented? Experts don't yet understand how to prevent Parkinson disease. In some instances, there seems to be a genetic predisposition to develop Parkinson disease, but this isn’t always the case.[hopkinsmedicine.org]
  • Scalp DFSP is very uncommon but is an aggressive tumor, so MR imaging diagnosis of the extent of the lesion to underlying structures, and initial wide local resection is important to prevent recurrence.[newnonmun.com]
  • […] the metabolism of dopamine and hence increase the synaptic half-life of dopamine and the amount of dopamine taken back up into the presynaptic terminal Catechol O-methyltransferase (COMT) inhibitors prevent the metabolism of levodopa to 3-O-methydopa[tocris.com]

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