U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Bentivenga GM, Baiardi S, Mastrangelo A, Ruggeri E, Mammana A, Ticca A, Rossi M, Capellari S, Parchi P
Alzheimers Res Ther 2024 Sep 10;16(1):201. doi: 10.1186/s13195-024-01565-x. PMID: 39256877Free PMC Article
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 AG, Uphill J, Lowe J, Porter MC, Lukic A, Carswell C, Rudge P, MacKay A, Collinge J, Mead S
Transl Psychiatry 2015 Apr 21;5(4):e552. doi: 10.1038/tp.2015.42. PMID: 25897833Free 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
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

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
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
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
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

Bentivenga GM, Baiardi S, Mastrangelo A, Ruggeri E, Mammana A, Ticca A, Rossi M, Capellari S, Parchi P
Alzheimers Res Ther 2024 Sep 10;16(1):201. doi: 10.1186/s13195-024-01565-x. PMID: 39256877Free PMC Article
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
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

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.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. 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...