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Substantia nigra gliosis

MedGen UID:
337668
Concept ID:
C1846865
Finding
Synonym: Gliosis in the substantia nigra
 
HPO: HP:0011960

Definition

Focal proliferation of glial cells in the substantia nigra. [from HPO]

Term Hierarchy

Conditions with this feature

Autosomal dominant Parkinson disease 8
MedGen UID:
339628
Concept ID:
C1846862
Disease or Syndrome
LRRK2 Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cogwheel muscle rigidity, postural instability, and gait abnormalities that may include festination and freezing. Certain nonmotor symptoms in LRRK2-PD, especially REM sleep behavior disorder and cognitive decline, may occur at similar or slightly reduced frequency compared to typical idiopathic* PD. Onset is generally after age 50, although early-onset (in the 20s) and late-onset (in the 90s) disease has been described. * Idiopathic PD refers to the presence of signs and symptoms of PD for which the etiology is currently unknown and in which there is no known family history of PD.
Dementia/parkinsonism with non-Alzheimer amyloid plaques
MedGen UID:
338883
Concept ID:
C1852223
Disease or Syndrome
Autosomal recessive juvenile Parkinson disease 2
MedGen UID:
401500
Concept ID:
C1868675
Disease or Syndrome
Parkin type of early-onset Parkinson disease (PARK-Parkin) is characterized by the cardinal signs of Parkinson disease (PD): bradykinesia, resting tremor, and rigidity. The median age at onset is 31 years (range: 3-81 years). The disease is slowly progressive: disease duration of more than 50 years has been reported. Clinical findings vary; hyperreflexia is common. Lower-limb dystonia may be a presenting sign and cognitive decline appears to be no more frequent than in the general population. Dyskinesia as a result of treatment with levodopa frequently occurs.
Parkinson disease, late-onset
MedGen UID:
463618
Concept ID:
C3160718
Disease or Syndrome
Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's 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). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.

Professional guidelines

PubMed

Davis AA, Inman CE, Wargel ZM, Dube U, Freeberg BM, Galluppi A, Haines JN, Dhavale DD, Miller R, Choudhury FA, Sullivan PM, Cruchaga C, Perlmutter JS, Ulrich JD, Benitez BA, Kotzbauer PT, Holtzman DM
Sci Transl Med 2020 Feb 5;12(529) doi: 10.1126/scitranslmed.aay3069. PMID: 32024799Free PMC Article
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Zijlmans JC, Daniel SE, Hughes AJ, Révész T, Lees AJ
Mov Disord 2004 Jun;19(6):630-40. doi: 10.1002/mds.20083. PMID: 15197700

Recent clinical studies

Etiology

Russo T, Kolisnyk B, B S A, Plessis-Belair J, Kim TW, Martin J, Ni J, Pearson JA, Park EJ, Sher RB, Studer L, Riessland M
Aging Cell 2024 Apr;23(4):e14077. Epub 2024 Feb 1 doi: 10.1111/acel.14077. PMID: 38303548Free PMC Article
Wang EW, Brown GL, Lewis MM, Jellen LC, Pu C, Johnson ML, Chen H, Kong L, Du G, Huang X
Mov Disord 2023 Mar;38(3):464-473. Epub 2023 Jan 4 doi: 10.1002/mds.29311. PMID: 36598274Free PMC Article
Kouli A, Camacho M, Allinson K, Williams-Gray CH
Acta Neuropathol Commun 2020 Dec 3;8(1):211. doi: 10.1186/s40478-020-01083-5. PMID: 33272323Free PMC Article
Dickson DW, Rademakers R, Hutton ML
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Diagnosis

Cheslow L, Snook AE, Waldman SA
Biomark Med 2021 Jun;15(8):597-608. Epub 2021 May 14 doi: 10.2217/bmm-2020-0654. PMID: 33988462Free PMC Article
Dickson DW
Cold Spring Harb Perspect Med 2012 Aug 1;2(8) doi: 10.1101/cshperspect.a009258. PMID: 22908195Free PMC Article
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Therapy

Fahn S
Parkinsonism Relat Disord 2018 Jan;46 Suppl 1:S1-S5. Epub 2017 Aug 1 doi: 10.1016/j.parkreldis.2017.07.020. PMID: 28784297
Kish SJ, Boileau I, Callaghan RC, Tong J
Eur J Neurosci 2017 Jan;45(1):58-66. Epub 2016 Sep 5 doi: 10.1111/ejn.13363. PMID: 27519465Free PMC Article
Gálvez-Gastélum FJ, Garcia-Bañuelos JJ, Beas-Zárate C, Segura-Flores A, González H, Chaparro-Huerta V, Salazar-Montes A, Sandoval-Rodriguez AS, Bueno-Topete M, Lucano-Landeros S, Medina-Preciado D, Gonzalez-Garcia I, Armendáriz-Borunda J
Gene Ther 2011 Jan;18(1):88-94. Epub 2010 Aug 12 doi: 10.1038/gt.2010.107. PMID: 20703313
Kazee AM, Cox C, Richfield EK
Alzheimer Dis Assoc Disord 1995 Summer;9(2):61-7. doi: 10.1097/00002093-199509020-00001. PMID: 7662324
Alves RS, Barbosa ER, Scaff M
Mov Disord 1992;7(2):178-80. doi: 10.1002/mds.870070213. PMID: 1350062

Prognosis

Kish SJ, Boileau I, Callaghan RC, Tong J
Eur J Neurosci 2017 Jan;45(1):58-66. Epub 2016 Sep 5 doi: 10.1111/ejn.13363. PMID: 27519465Free PMC Article
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Neurology 1994 Sep;44(9):1633-43. doi: 10.1212/wnl.44.9.1633. PMID: 7936288

Clinical prediction guides

Russo T, Kolisnyk B, B S A, Plessis-Belair J, Kim TW, Martin J, Ni J, Pearson JA, Park EJ, Sher RB, Studer L, Riessland M
Aging Cell 2024 Apr;23(4):e14077. Epub 2024 Feb 1 doi: 10.1111/acel.14077. PMID: 38303548Free PMC Article
Boonstra JT, McGurran H, Temel Y, Jahanshahi A
Brain Struct Funct 2022 Sep;227(7):2231-2242. Epub 2022 Jul 19 doi: 10.1007/s00429-022-02531-9. PMID: 35854141Free PMC Article
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A
Brain 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205
Fischer NM, Hinkle JT, Perepezko K, Bakker CC, Morris M, Broen MPG, Butala A, Dawson TM, Leentjens AFG, Mari Z, Marvel CL, Mills KA, Rosenthal LS, Shepard MD, Pantelyat A, Bakker A, Pletnikova O, Troncoso JC, Wang J, Pontone GM
Am J Geriatr Psychiatry 2021 Sep;29(9):958-968. Epub 2021 Jan 15 doi: 10.1016/j.jagp.2020.12.009. PMID: 33455856Free PMC Article
O'Callaghan JP, Sriram K, Miller DB
Ann N Y Acad Sci 2008 Oct;1139:318-30. doi: 10.1196/annals.1432.032. PMID: 18991877

Recent systematic reviews

Wong JC, Armstrong MJ, Lang AE, Hazrati LN
Mov Disord 2013 Mar;28(3):274-81. Epub 2012 Oct 31 doi: 10.1002/mds.25232. PMID: 23114877

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