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Cerebral cortex with spongiform changes

MedGen UID:
341885
Concept ID:
C1857934
Finding
HPO: HP:0006790

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral cortex with spongiform changes

Conditions with this feature

Fatal familial insomnia
MedGen UID:
104768
Concept ID:
C0206042
Disease or Syndrome
Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.
Spongiform encephalopathy with neuropsychiatric features
MedGen UID:
339812
Concept ID:
C1847650
Disease or Syndrome
Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology
MedGen UID:
341884
Concept ID:
C1857933
Disease or Syndrome

Professional guidelines

PubMed

Lowe J, Dickson D
J Neural Transm Suppl 1997;51:111-20. doi: 10.1007/978-3-7091-6846-2_9. PMID: 9470132
MacDonald ST, Sutherland K, Ironside JW
Neuropathol Appl Neurobiol 1996 Aug;22(4):285-92. doi: 10.1111/j.1365-2990.1996.tb01106.x. PMID: 8875462
Budka H, Aguzzi A, Brown P, Brucher JM, Bugiani O, Gullotta F, Haltia M, Hauw JJ, Ironside JW, Jellinger K
Brain Pathol 1995 Oct;5(4):459-66. doi: 10.1111/j.1750-3639.1995.tb00625.x. PMID: 8974629

Recent clinical studies

Etiology

Homma T, Mochizuki Y, Takahashi K, Komori T
Neuropathology 2015 Oct;35(5):441-51. Epub 2015 Jun 16 doi: 10.1111/neup.12208. PMID: 26079638
Matsusue E, Sugihara S, Fujii S, Kinoshita T, Nakano T, Ohama E, Ogawa T
AJNR Am J Neuroradiol 2007 Sep;28(8):1505-10. doi: 10.3174/ajnr.A0605. PMID: 17846201Free PMC Article
Higuchi M, Tashiro M, Arai H, Okamura N, Hara S, Higuchi S, Itoh M, Shin RW, Trojanowski JQ, Sasaki H
Exp Neurol 2000 Apr;162(2):247-56. doi: 10.1006/exnr.2000.7342. PMID: 10739631
Kaneko M, Arai K, Hattori T, Imai T
Clin Neuropathol 1999 Jan-Feb;18(1):9-16. PMID: 9988133
Lowe J, Dickson D
J Neural Transm Suppl 1997;51:111-20. doi: 10.1007/978-3-7091-6846-2_9. PMID: 9470132

Diagnosis

Iwasaki Y, Hiraga K, Ito S, Ando T, Akagi A, Riku Y, Mimuro M, Miyahara H, Kobayashi A, Kitamoto T, Yoshida M
Neuropathology 2019 Dec;39(6):452-460. Epub 2019 Sep 12 doi: 10.1111/neup.12595. PMID: 31515858
Iwasaki Y
Neuropathology 2017 Apr;37(2):174-188. Epub 2016 Dec 28 doi: 10.1111/neup.12355. PMID: 28028861
Lowe J, Dickson D
J Neural Transm Suppl 1997;51:111-20. doi: 10.1007/978-3-7091-6846-2_9. PMID: 9470132
Smith TW, Anwer U, DeGirolami U, Drachman DA
Arch Neurol 1987 Dec;44(12):1225-8. doi: 10.1001/archneur.1987.00520240007003. PMID: 3314815
Yamanouchi H, Budka H, Vass K Sr
Neurology 1986 Nov;36(11):1517-20. doi: 10.1212/wnl.36.11.1517. PMID: 3531919

Therapy

Shijo M, Honda H, Koyama S, Ishitsuka K, Maeda K, Kuroda J, Tanii M, Kitazono T, Iwaki T
Neuropathology 2017 Jun;37(3):275-281. Epub 2016 Dec 7 doi: 10.1111/neup.12359. PMID: 27925304
Torres JM, Castilla J, Pintado B, Gutiérrez-Adan A, Andréoletti O, Aguilar-Calvo P, Arroba AI, Parra-Arrondo B, Ferrer I, Manzanares J, Espinosa JC
Emerg Infect Dis 2013 Dec;19(12):1938-47. doi: 10.3201/eid1912.130106. PMID: 24274622Free PMC Article
Higuchi M, Tashiro M, Arai H, Okamura N, Hara S, Higuchi S, Itoh M, Shin RW, Trojanowski JQ, Sasaki H
Exp Neurol 2000 Apr;162(2):247-56. doi: 10.1006/exnr.2000.7342. PMID: 10739631
Kaneko M, Arai K, Hattori T, Imai T
Clin Neuropathol 1999 Jan-Feb;18(1):9-16. PMID: 9988133
Iseki E, Li F, Kosaka K
J Neurol Sci 1997 Feb 27;146(1):53-7. doi: 10.1016/s0022-510x(96)00282-1. PMID: 9077496

Prognosis

Uchino A, Saito Y, Oonuma S, Murayama S, Yagishita S, Kitamoto T, Hasegawa K
Neuropathology 2023 Dec;43(6):486-495. Epub 2023 May 30 doi: 10.1111/neup.12911. PMID: 37253452
Iwasaki Y, Hiraga K, Ito S, Ando T, Akagi A, Riku Y, Mimuro M, Miyahara H, Kobayashi A, Kitamoto T, Yoshida M
Neuropathology 2019 Dec;39(6):452-460. Epub 2019 Sep 12 doi: 10.1111/neup.12595. PMID: 31515858
Iwasaki Y, Kato H, Ando T, Akagi A, Mimuro M, Miyahara H, Kobayashi A, Kitamoto T, Yoshida M
Neuropathology 2019 Jun;39(3):240-247. Epub 2019 May 7 doi: 10.1111/neup.12557. PMID: 31062411
Jeffrey M, Piccardo P, Ritchie DL, Ironside JW, Green AJ, McGovern G
PLoS One 2015;10(6):e0129499. Epub 2015 Jun 19 doi: 10.1371/journal.pone.0129499. PMID: 26091261Free PMC Article
Manners DN, Parchi P, Tonon C, Capellari S, Strammiello R, Testa C, Tani G, Malucelli E, Spagnolo C, Cortelli P, Montagna P, Lodi R, Barbiroli B
Neurology 2009 Apr 21;72(16):1425-31. doi: 10.1212/WNL.0b013e3181a18846. PMID: 19380702

Clinical prediction guides

Matsuo K, Goto D, Hasegawa M, Ogita K, Koyama T, Akagi A, Kitamoto T, Yoshida M, Iwasaki Y
Neuropathology 2022 Jun;42(3):245-253. Epub 2022 Apr 19 doi: 10.1111/neup.12804. PMID: 35441383
Iwasaki Y
Neuropathology 2017 Apr;37(2):174-188. Epub 2016 Dec 28 doi: 10.1111/neup.12355. PMID: 28028861
Herrera VL, Decano JL, Steffen M, Ruiz-Opazo N
Autophagy 2009 Feb;5(2):259-62. Epub 2009 Feb 12 doi: 10.4161/auto.5.2.7617. PMID: 19139631Free PMC Article
Lowe J, Dickson D
J Neural Transm Suppl 1997;51:111-20. doi: 10.1007/978-3-7091-6846-2_9. PMID: 9470132
Smith TW, Anwer U, DeGirolami U, Drachman DA
Arch Neurol 1987 Dec;44(12):1225-8. doi: 10.1001/archneur.1987.00520240007003. PMID: 3314815

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