Parkinson's disease in a patient with multiple sclerosis and heterozygous glucocerebrosidase gene mutation Author links open overlay panelSentilijaDelalićabTomažRusbAlenkaHorvat LedinekbMajaKojovićbDejanGeorgievbcdePersonEnvelope Show
ShareShare Cited ByCite https://doi.org/10.1016/j.prdoa.2020.100055Get rights and content Under a Creative Commons license Open access Highlights• We report a case of MS patient who developed PD and was found to be heterozygous carrier of GBA1 gene mutation. •MS might increase the chances of PD development in GBA1 gene mutation carriers. •The mechanisms by which GBA1 mutations increase the risk of development PD in the setting of MS are not known. AbstractMore than 30 patients with multiple sclerosis (MS) and Parkinson's disease (PD) have been reported so far. Theories on the co-occurrence of MS and PD range from coincidental to causal. There has been only one report of MS in young onset PD in a patient heterozygous for Parkin mutation. We report a patient with MS who developed signs typical for PD and was found to be heterozygous mutation carrier in the gene for glucocerebrosidase (GBA1), a well-known risk factor for PD. MS and Parkinson’s disease are two diseases affecting the central nervous system. Multiple Sclerosis (MS) is a chronic autoimmune, T-cell mediated inflammatory disease affecting the central nervous system. On the other hand, Parkinson’s disease is a movement disorder characterized by a decline in the dopamine level of the brain. Although MS is an autoimmune disorder, there is no immune component in the pathogenesis of Parkinson’s disease. This is the key difference between MS and Parkinson’s. CONTENTS1. Overview and Key Difference What is MS?Multiple Sclerosis is a chronic autoimmune, T-cell mediated inflammatory disease affecting the central nervous system. Multiple areas of demyelination are found in the brain and the spinal cord. The incidence of MS is higher among women. MS mostly occurs between 20 and 40 years of age. The prevalence of the disease varies according to the geographical region and ethnic background. Three commonest presentations of MS are;
Patients with MS are susceptible to other autoimmune disorders. Both genetic and environmental factors influence the pathogenesis of the disease. PathogenesisT cell-mediated inflammatory process occurs mainly in the white matter of the brain and spinal cord, producing plaques of demyelination. 2-10mm sized plaques are usually found in the optic nerves, periventricular region, corpus callosum, brain stem and its cerebellar connections and cervical cord. In MS, peripheral myelinated nerves are not directly affected. In the severe form of the disease, permanent axonal destruction occurs, resulting in progressive disability. Types of Multiple Sclerosis
Common Signs and Symptoms
In late MS, severe debilitating symptoms, with optic atrophy, nystagmus, spastic tetraparesis, ataxia, brainstem signs, pseudobulbar palsy, urinary incontinence and cognitive impairment can be seen. Figure 01: MS DiagnosisDiagnosis of MS can be made if the patient has had 2 or more attacks affecting different parts of the CNS. MRI is the standard investigation used in the confirmation of clinical diagnosis. CT and CSF examination can be done to provide further supportive evidence for the diagnosis if necessary. ManagementThere is no definitive cure for MS. But several immunomodulatory drugs have been introduced to modify the course of the inflammatory relapsing-remitting phase of MS. These are known as Disease Modifying Drugs (DMDs). Beta-interferon and glatiramer acetate are examples of such drugs. Apart from drug therapy, general measures such as physiotherapy, supporting the patient with the help of a multidisciplinary team and occupational therapy can vastly improve the living standards of the patient. PrognosisThe prognosis of multiple sclerosis varies in an unpredictable manner. A high MR lesion load at the initial presentation, high relapse rate, male gender and late presentation are usually associated with a poor prognosis. Some patients continue to live a normal life with no apparent disabilities while some can get severely disabled. What is Parkinson’s?Parkinson’s disease is a movement disorder characterized by a decline in the dopamine level of the brain. The cause of this condition still remains controversial. The risk of Parkinson’s disease significantly increases with advanced age. A familial inheritance of the disease has not yet been identified. PathologyThe appearance of Lewy bodies and loss of dopaminergic neurons in pars compacta of the substantia nigra region of midbrain are the hallmark morphological changes seen in the Parkinson’s disease. Clinical Features
Figure 02: Parkinson’s Disease DiagnosisThere is no laboratory test for the exact identification of Parkinson’s disease. Therefore, diagnosis is solely based on the signs and symptoms recognized during the clinical examination. MRI images appear to be normal most of the time. TreatmentThe patient and the family should be educated about the condition. Motor symptoms can be alleviated by the use of drugs such as dopamine receptor agonists and levodopa which restore the dopamine activity of the brain. Sleep disturbances and psychotic episodes should be managed appropriately. Dopamine antagonists such as neuroleptics can induce Parkinson’s disease-like symptoms in which case they are collectively known as Parkinsonism. What is the Similarity Between MS and Parkinson’s?
What is the Difference Between MS and Parkinson’s?MS vs Parkinson’sMultiple Sclerosis is a chronic autoimmune, T-cell mediated inflammatory disease affecting the central nervous system.Parkinson’s disease is a movement disorder characterized by a decline in the dopamine level of the brain.CausesDemyelination of nerves in the brain and spinal cord is the pathological basis of the disease.Parkinson’s disease is due to the decline in the dopamine level of the brain.Clinical FeaturesCommon signs and symptoms of MS are,
In late MS, severe debilitating symptoms of optic atrophy, nystagmus, spastic tetraparesis, ataxia, brainstem signs, pseudobulbar palsy, urinary incontinence and cognitive impairment can be seen. Clinical features of Parkinson’s disease are,
In the late stage of the disease, patient can also develop cognitive impairments DiagnosisMRI is the standard investigation used in the diagnosis of MS. In addition to that CT can also be used depending on the facilities available.There is no laboratory test for the exact identification of Parkinson’s disease. Therefore diagnosis is solely based on the signs and symptoms recognized during the clinical examination. MRI images appear to be normal most of the time.MedicineDisease-modifying drugs such as beta-interferon and glatiramer are used in the management of MS.Motor symptoms are treated with levodopa and dopamine agonists.Genetic PredispositionThere is a genetic predisposition.There is no evidence to suggest a genetic predisposition.Summary – MS vs Parkinson’sMultiple Sclerosis is a chronic autoimmune, T-cell mediated inflammatory disease affecting the Central Nervous System. Parkinson’s disease is a movement disorder characterized by a decline in the dopamine level of the brain. Multiple sclerosis, as stated in its definition, is an autoimmune disease but Parkinson’s disease is not an autoimmune disease. This is the major difference between MS and Parkinson’s. Download PDF Version of MS vs Parkinson’sYou can download PDF version of this article and use it for offline purposes as per citation notes. Please download PDF version here Difference Between MS and Parkinson References:1. Kumar, Parveen J., and Michael L. Clark. Kumar & Clark clinical medicine. Edinburgh: W.B. Saunders, 2009. How is multiple sclerosis different from Parkinson's?Parkinson's disease and multiple sclerosis are neurodegenerative diseases that affect your brain and spinal cord. Multiple sclerosis occurs when your immune system attacks cells that cover your nerves. Parkinson's is caused by the loss of dopamine-producing cells in a part of your brain called the substantia nigra.
What are the four cardinal signs of Parkinson's disease?Rest tremor, bradykinesia, rigidity and loss of postural reflexes are generally considered the cardinal signs of PD.
How common is it to have MS and Parkinson's?Co-occurrence of MS and PD is rare. Here we have reported a case of development of PD, 18 years after diagnosis of MS.
How can a neurologist tell if you have Parkinson's disease?There isn't a specific test to diagnose Parkinson's disease. A doctor trained in nervous system conditions (neurologist) will diagnose Parkinson's disease based on your medical history, a review of your signs and symptoms, and a neurological and physical examination.
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