Parkinson's disease differential diagnosis
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Overview
Differential Diagnosis
Parkinson disease must be differentiated from other diseases that can mimic this disease clinically or radiologically such as:
Essential tremor
Essential tremor is demonstrated by bilateral resting tremor of arms, head, chin and trunk. Tremor of PD is action tremor and it seems to be easy to differentiate it from resting tremor of ET but sometimes we can see resting tremor in PD patient and conversely action tremor in ET patients.[1][2]
Scans without evidence of dopaminergic deficit (SWEDD)
Patients with scans without evidence of dopaminergic deficit have upper extremity resting tremor but their disease does not progress to the complete PD and there are no evidence of dopamine depletion in their NS.[3]
Dementia with Lewy bodies
Dementia will finally occurs in the most cases of Parkinson disease but the timing of dementia in PD is after full developing of PD and mostly after at least one year of disease start date. When dementia occurs with or before the signs and symptoms of Parkinson disease we will categorize it as dementia with lewy body.[4][5]
Multiple system atrophy
MSA is an idiopathic disease (61) characterized by autonomic problems such as urogenital dysfunction, ataxia and parkinsonism symptoms.(27) MSA patients have resting tremor in arms, rigidity and bradykinesia.(16) The underlying pathophysiology of MSA is myelin dysfunction and inclusions in glial cell throughout CNS.(61_63)
Corticobasal degeneration
Progressive supranuclear palsy
Idiopathic and familial basal ganglia calcification
Accumulation of calcium in some brain regions and the basal ganglia is known as idiopathic basal ganglia calcification or bilateral striatopallidodentate calcinosis. Some of these patients can have parkinsonism symptoms such as dystonia, ataxia and chorea mostly between ages 20_60.[6][7] The autosomal dominant form of the disease which is known as familial form[8] can be the result of several mutations such as: The SLC20A2 gene on chromosome 8p11.2[9], the PDGFRB gene on chromosome 5q32[10], the PDGFB gene on chromosome 22q13.1[11][12] and the XPR1 gene on chromosome 1q25.3.[13]
Other neurodegenerative disorders
Secondary parkinsonism
- Vascular parkinsonism
- Drug-induced parkinsonism
References
- ↑ Jankovic J, Schwartz KS, Ondo W (November 1999). "Re-emergent tremor of Parkinson's disease". J. Neurol. Neurosurg. Psychiatry. 67 (5): 646–50. PMC 1736624. PMID 10519872.
- ↑ Louis ED, Levy G, Côte LJ, Mejia H, Fahn S, Marder K (October 2001). "Clinical correlates of action tremor in Parkinson disease". Arch. Neurol. 58 (10): 1630–4. PMID 11594921.
- ↑ Schneider SA, Edwards MJ, Mir P, Cordivari C, Hooker J, Dickson J, Quinn N, Bhatia KP (November 2007). "Patients with adult-onset dystonic tremor resembling parkinsonian tremor have scans without evidence of dopaminergic deficit (SWEDDs)". Mov. Disord. 22 (15): 2210–5. doi:10.1002/mds.21685. PMID 17712858.
- ↑ McKeith IG, Boeve BF, Dickson DW, Halliday G, Taylor JP, Weintraub D, Aarsland D, Galvin J, Attems J, Ballard CG, Bayston A, Beach TG, Blanc F, Bohnen N, Bonanni L, Bras J, Brundin P, Burn D, Chen-Plotkin A, Duda JE, El-Agnaf O, Feldman H, Ferman TJ, Ffytche D, Fujishiro H, Galasko D, Goldman JG, Gomperts SN, Graff-Radford NR, Honig LS, Iranzo A, Kantarci K, Kaufer D, Kukull W, Lee V, Leverenz JB, Lewis S, Lippa C, Lunde A, Masellis M, Masliah E, McLean P, Mollenhauer B, Montine TJ, Moreno E, Mori E, Murray M, O'Brien JT, Orimo S, Postuma RB, Ramaswamy S, Ross OA, Salmon DP, Singleton A, Taylor A, Thomas A, Tiraboschi P, Toledo JB, Trojanowski JQ, Tsuang D, Walker Z, Yamada M, Kosaka K (July 2017). "Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium". Neurology. 89 (1): 88–100. doi:10.1212/WNL.0000000000004058. PMC 5496518. PMID 28592453. Vancouver style error: initials (help)
- ↑ Boeve BF, Dickson DW, Duda JE, Ferman TJ, Galasko DR, Galvin JE, Goldman JG, Growdon JH, Hurtig HI, Kaufer DI, Kantarci K, Leverenz JB, Lippa CF, Lopez OL, McKeith IG, Singleton AB, Taylor A, Tsuang D, Weintraub D, Zabetian CP (November 2016). "Arguing against the proposed definition changes of PD". Mov. Disord. 31 (11): 1619–1622. doi:10.1002/mds.26721. PMC 5168716. PMID 27492190.
- ↑ Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D (November 2013). "Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification". Brain. 136 (Pt 11): 3395–407. doi:10.1093/brain/awt255. PMID 24065723.
- ↑ Ellie E, Julien J, Ferrer X (March 1989). "Familial idiopathic striopallidodentate calcifications". Neurology. 39 (3): 381–5. PMID 2927646.
- ↑ Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M (April 2015). "Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization". JAMA Neurol. 72 (4): 460–7. doi:10.1001/jamaneurol.2014.3889. PMID 25686319.
- ↑ Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY (February 2012). "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis". Nat. Genet. 44 (3): 254–6. doi:10.1038/ng.1077. PMID 22327515.
- ↑ Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D (January 2013). "Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification". Neurology. 80 (2): 181–7. doi:10.1212/WNL.0b013e31827ccf34. PMID 23255827.
- ↑ Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR (September 2013). "Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice". Nat. Genet. 45 (9): 1077–82. doi:10.1038/ng.2723. PMID 23913003.
- ↑ Keogh MJ, Pyle A, Daud D, Griffin H, Douroudis K, Eglon G, Miller J, Horvath R, Chinnery PF (April 2015). "Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB". Neurology. 84 (17): 1818–20. doi:10.1212/WNL.0000000000001517. PMC 4424129. PMID 25832657.
- ↑ Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G (June 2015). "Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export". Nat. Genet. 47 (6): 579–81. doi:10.1038/ng.3289. PMC 4516721. PMID 25938945.