U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Generally, 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.\n\nParkinson'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.

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
Aydin S, Abuzayed B, Kiziltan G, Gunduz A, Yagci S, Mengi M, Kizilkilic O, Uzan M, Hanci M
J Neurol Surg A Cent Eur Neurosurg 2013 Jul;74(4):271-6. Epub 2013 Jan 14 doi: 10.1055/s-0032-1322549. PMID: 23319330
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
Brain Pathol 2007 Jan;17(1):74-82. doi: 10.1111/j.1750-3639.2007.00054.x. PMID: 17493041Free PMC Article
Pearce JM
Eur Neurol 2006;56(1):66-8. doi: 10.1159/000095149. PMID: 16921248

Diagnosis

Dickson DW
Cold Spring Harb Perspect Med 2012 Aug 1;2(8) doi: 10.1101/cshperspect.a009258. PMID: 22908195Free PMC Article
Dickson DW, Rademakers R, Hutton ML
Brain Pathol 2007 Jan;17(1):74-82. doi: 10.1111/j.1750-3639.2007.00054.x. PMID: 17493041Free PMC Article
Black SE
Brain Cogn 1996 Jul;31(2):188-229. doi: 10.1006/brcg.1996.0042. PMID: 8811996
Quinn N, Wenning G
Curr Opin Neurol 1995 Aug;8(4):323-6. doi: 10.1097/00019052-199508000-00013. PMID: 7582051
Alves RS, Barbosa ER, Scaff M
Mov Disord 1992;7(2):178-80. doi: 10.1002/mds.870070213. PMID: 1350062

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
Muenter MD, Forno LS, Hornykiewicz O, Kish SJ, Maraganore DM, Caselli RJ, Okazaki H, Howard FM Jr, Snow BJ, Calne DB
Ann Neurol 1998 Jun;43(6):768-81. doi: 10.1002/ana.410430612. PMID: 9629847
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
Lenfeldt N, Larsson A, Nyberg L, Birgander R, Forsgren L
Eur J Neurol 2015 Oct;22(10):1408-14. Epub 2015 Jun 29 doi: 10.1111/ene.12760. PMID: 26118635
Ling H, Asi YT, Petrovic IN, Ahmed Z, Prashanth LK, Hazrati LN, Nishizawa M, Ozawa T, Lang A, Lees AJ, Revesz T, Holton JL
Mov Disord 2015 Jun;30(7):960-7. Epub 2015 Apr 8 doi: 10.1002/mds.26220. PMID: 25854893
Ishida C, Komai K, Yonezawa K, Sakajiri K, Nitta E, Kawashima A, Yamada M
Neuropathology 2011 Oct;31(5):510-8. Epub 2010 Dec 6 doi: 10.1111/j.1440-1789.2010.01176.x. PMID: 21134000
Lanska DJ, Currier RD, Cohen M, Gambetti P, Smith EE, Bebin J, Jackson JF, Whitehouse PJ, Markesbery WR
Neurology 1994 Sep;44(9):1633-43. doi: 10.1212/wnl.44.9.1633. PMID: 7936288

Clinical prediction guides

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
Armstrong DD
Brain Dev 2001 Dec;23 Suppl 1:S72-6. doi: 10.1016/s0387-7604(01)00332-1. PMID: 11738845

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...