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Spongiform encephalopathy with neuropsychiatric features

MedGen UID:
339812
Concept ID:
C1847650
Disease or Syndrome
Synonym: Spongiform Encephalopathy with Neuropsychiatric Features
 
Gene (location): PRNP (20p13)
 
Monarch Initiative: MONDO:0011703
OMIM®: 606688

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Gliosis
MedGen UID:
4899
Concept ID:
C0017639
Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Neurofibrillary tangles
MedGen UID:
39273
Concept ID:
C0085400
Finding
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Encephalopathy
MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Memory impairment
MedGen UID:
68579
Concept ID:
C0233794
Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Personality changes
MedGen UID:
66817
Concept ID:
C0240735
Mental or Behavioral Dysfunction
An abnormal shift in patterns of thinking, acting, or feeling.
Parkinsonian disorder
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Hyperorality
MedGen UID:
325386
Concept ID:
C1838320
Finding
Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.
Cerebral cortex with spongiform changes
MedGen UID:
341885
Concept ID:
C1857934
Finding

Professional guidelines

PubMed

Kapas I, Majtenyi K, Törö K, Keller E, Voigtländer T, Kovacs GG
Metab Brain Dis 2012 Jun;27(2):231-5. Epub 2012 Apr 27 doi: 10.1007/s11011-012-9308-8. PMID: 22535301

Recent clinical studies

Etiology

Chen Z, Chu M, Zhang J, Kong Y, Xie K, Cui Y, Ye H, Liu L, Li J, Wang L, Wu L
Eur J Neurol 2023 Apr;30(4):813-822. Epub 2023 Jan 23 doi: 10.1111/ene.15676. PMID: 36617541
Thompson A, MacKay A, Rudge P, Lukic A, Porter MC, Lowe J, Collinge J, Mead S
Am J Psychiatry 2014 Mar;171(3):265-74. doi: 10.1176/appi.ajp.2013.12111460. PMID: 24585329
Kapas I, Majtenyi K, Törö K, Keller E, Voigtländer T, Kovacs GG
Metab Brain Dis 2012 Jun;27(2):231-5. Epub 2012 Apr 27 doi: 10.1007/s11011-012-9308-8. PMID: 22535301
Appleby BS, Appleby KK, Crain BJ, Onyike CU, Wallin MT, Rabins PV
Arch Neurol 2009 Feb;66(2):208-15. doi: 10.1001/archneurol.2008.533. PMID: 19204157
Irani DN
Semin Clin Neuropsychiatry 2003 Jan;8(1):71-9. doi: 10.1053/scnp.2003.50001. PMID: 12567334

Diagnosis

Chen Z, Chu M, Zhang J, Kong Y, Xie K, Cui Y, Ye H, Liu L, Li J, Wang L, Wu L
Eur J Neurol 2023 Apr;30(4):813-822. Epub 2023 Jan 23 doi: 10.1111/ene.15676. PMID: 36617541
Xie K, Chen Y, Chu M, Cui Y, Chen Z, Zhang J, Liu L, Jing D, Cui C, Liang Z, Ren L, Rosa-Neto P, Ghorayeb I, Zhang Z, Wu L
Neuroimage Clin 2022;34:103026. Epub 2022 Apr 26 doi: 10.1016/j.nicl.2022.103026. PMID: 35504222Free PMC Article
Takada LT, Kim MO, Cleveland RW, Wong K, Forner SA, Gala II, Fong JC, Geschwind MD
Am J Med Genet B Neuropsychiatr Genet 2017 Jan;174(1):36-69. doi: 10.1002/ajmg.b.32505. PMID: 27943639Free PMC Article
Thompson A, MacKay A, Rudge P, Lukic A, Porter MC, Lowe J, Collinge J, Mead S
Am J Psychiatry 2014 Mar;171(3):265-74. doi: 10.1176/appi.ajp.2013.12111460. PMID: 24585329
Kovács GG, Majtényi K
Folia Neuropathol 2005;43(4):279-85. PMID: 16416392

Therapy

Thompson A, MacKay A, Rudge P, Lukic A, Porter MC, Lowe J, Collinge J, Mead S
Am J Psychiatry 2014 Mar;171(3):265-74. doi: 10.1176/appi.ajp.2013.12111460. PMID: 24585329

Prognosis

Chen Z, Chu M, Zhang J, Kong Y, Xie K, Cui Y, Ye H, Liu L, Li J, Wang L, Wu L
Eur J Neurol 2023 Apr;30(4):813-822. Epub 2023 Jan 23 doi: 10.1111/ene.15676. PMID: 36617541
Klotz DM, Penfold RS
J Med Case Rep 2018 May 8;12(1):128. doi: 10.1186/s13256-018-1649-4. PMID: 29734943Free PMC Article
Thompson A, MacKay A, Rudge P, Lukic A, Porter MC, Lowe J, Collinge J, Mead S
Am J Psychiatry 2014 Mar;171(3):265-74. doi: 10.1176/appi.ajp.2013.12111460. PMID: 24585329
Appleby BS, Appleby KK, Crain BJ, Onyike CU, Wallin MT, Rabins PV
Arch Neurol 2009 Feb;66(2):208-15. doi: 10.1001/archneurol.2008.533. PMID: 19204157
Kovács GG, Majtényi K
Folia Neuropathol 2005;43(4):279-85. PMID: 16416392

Clinical prediction guides

Xie K, Chen Y, Chu M, Cui Y, Chen Z, Zhang J, Liu L, Jing D, Cui C, Liang Z, Ren L, Rosa-Neto P, Ghorayeb I, Zhang Z, Wu L
Neuroimage Clin 2022;34:103026. Epub 2022 Apr 26 doi: 10.1016/j.nicl.2022.103026. PMID: 35504222Free PMC Article
Nagata T, Shinagawa S, Kobayashi N, Kondo K, Shigeta M
Prion 2022 Dec;16(1):7-13. doi: 10.1080/19336896.2021.2017701. PMID: 34965177Free PMC Article
Thompson A, MacKay A, Rudge P, Lukic A, Porter MC, Lowe J, Collinge J, Mead S
Am J Psychiatry 2014 Mar;171(3):265-74. doi: 10.1176/appi.ajp.2013.12111460. PMID: 24585329
Appleby BS, Appleby KK, Crain BJ, Onyike CU, Wallin MT, Rabins PV
Arch Neurol 2009 Feb;66(2):208-15. doi: 10.1001/archneurol.2008.533. PMID: 19204157

Supplemental Content

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