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Temporal cortical atrophy

MedGen UID:
870489
Concept ID:
C4024936
Disease or Syndrome
HPO: HP:0007112

Definition

Atrophy of the temporal cortex. [from HPO]

Term Hierarchy

Conditions with this feature

Joubert syndrome 22
MedGen UID:
816608
Concept ID:
C3810278
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
MedGen UID:
1641069
Concept ID:
C4551951
Disease or Syndrome
Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
MedGen UID:
1710110
Concept ID:
C5394312
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020).

Professional guidelines

PubMed

Czyzycki M, Glen A, Slowik A, Chrzan R, Dziedzic T
J Neural Transm (Vienna) 2021 Feb;128(2):207-213. Epub 2021 Jan 8 doi: 10.1007/s00702-020-02294-9. PMID: 33417010
Rabinovici GD, Miller BL
CNS Drugs 2010 May;24(5):375-98. doi: 10.2165/11533100-000000000-00000. PMID: 20369906Free PMC Article
van der Flier WM, Barkhof F, Scheltens P
Ann N Y Acad Sci 2007 Feb;1097:215-24. doi: 10.1196/annals.1379.013. PMID: 17413024

Recent clinical studies

Etiology

Ndlovu NA, Morgan N, Malapile S, Subramaney U, Daniels W, Naidoo J, van den Heuvel MP, Calvey T
Drug Alcohol Depend 2021 Apr 1;221:108630. Epub 2021 Feb 16 doi: 10.1016/j.drugalcdep.2021.108630. PMID: 33667779
Urriola N, Soosapilla K, Drummond J, Thieben M
BMJ Case Rep 2019 Feb 21;12(2) doi: 10.1136/bcr-2018-227893. PMID: 30796080Free PMC Article
Gallucci M, Piovesan C, Di Battista ME
J Alzheimers Dis 2018;62(4):1623-1634. doi: 10.3233/JAD-170938. PMID: 29504533
Landin-Romero R, Kumfor F, Leyton CE, Irish M, Hodges JR, Piguet O
Neuroimage 2017 May 1;151:72-80. Epub 2016 Mar 21 doi: 10.1016/j.neuroimage.2016.03.032. PMID: 27012504
Pohjasvaara T, Mäntylä R, Aronen HJ, Leskelä M, Salonen O, Kaste M, Erkinjuntti T
J Neurol Neurosurg Psychiatry 1999 Dec;67(6):742-8. doi: 10.1136/jnnp.67.6.742. PMID: 10567490Free PMC Article

Diagnosis

Milano C, Hoxhaj D, Del Chicca M, Pascazio A, Paoli D, Tommasini L, Vergallo A, Pizzanelli C, Tognoni G, Nuti A, Ceravolo R, Siciliano G, Hampel H, Baldacci F; Neurodegeneration Precision Medicine Initiative (NPMI)
J Alzheimers Dis 2023;94(2):611-625. doi: 10.3233/JAD-230170. PMID: 37334599
Gallucci M, Piovesan C, Di Battista ME
J Alzheimers Dis 2018;62(4):1623-1634. doi: 10.3233/JAD-170938. PMID: 29504533
Landin-Romero R, Kumfor F, Leyton CE, Irish M, Hodges JR, Piguet O
Neuroimage 2017 May 1;151:72-80. Epub 2016 Mar 21 doi: 10.1016/j.neuroimage.2016.03.032. PMID: 27012504
Pohjasvaara T, Mäntylä R, Aronen HJ, Leskelä M, Salonen O, Kaste M, Erkinjuntti T
J Neurol Neurosurg Psychiatry 1999 Dec;67(6):742-8. doi: 10.1136/jnnp.67.6.742. PMID: 10567490Free PMC Article
Mattman A, Feldman H, Forster B, Li D, Szasz I, Beattie BL, Schulzer M
Can J Neurol Sci 1997 Feb;24(1):22-8. doi: 10.1017/s0317167100021041. PMID: 9043743

Therapy

Milano C, Hoxhaj D, Del Chicca M, Pascazio A, Paoli D, Tommasini L, Vergallo A, Pizzanelli C, Tognoni G, Nuti A, Ceravolo R, Siciliano G, Hampel H, Baldacci F; Neurodegeneration Precision Medicine Initiative (NPMI)
J Alzheimers Dis 2023;94(2):611-625. doi: 10.3233/JAD-230170. PMID: 37334599
Urriola N, Soosapilla K, Drummond J, Thieben M
BMJ Case Rep 2019 Feb 21;12(2) doi: 10.1136/bcr-2018-227893. PMID: 30796080Free PMC Article
Mattman A, Feldman H, Forster B, Li D, Szasz I, Beattie BL, Schulzer M
Can J Neurol Sci 1997 Feb;24(1):22-8. doi: 10.1017/s0317167100021041. PMID: 9043743

Prognosis

Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O
Am J Hum Genet 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009. PMID: 22405087Free PMC Article
Jutila L, Immonen A, Mervaala E, Partanen J, Partanen K, Puranen M, Kälviäinen R, Alafuzoff I, Hurskainen H, Vapalahti M, Ylinen A
J Neurol Neurosurg Psychiatry 2002 Nov;73(5):486-94. doi: 10.1136/jnnp.73.5.486. PMID: 12397139Free PMC Article
Hüll M, Fiebich BL, Dykierek P, Schmidtke K, Nitzsche E, Orszagh M, Deuschl G, Moser E, Schumacher M, Lücking C, Berger M, Bauer J
Eur Arch Psychiatry Clin Neurosci 1998;248(3):123-9. doi: 10.1007/s004060050028. PMID: 9728730

Clinical prediction guides

Gallucci M, Piovesan C, Di Battista ME
J Alzheimers Dis 2018;62(4):1623-1634. doi: 10.3233/JAD-170938. PMID: 29504533
Nicita F, Garone G, Spalice A, Savasta S, Striano P, Pantaleoni C, Spartà MV, Kluger G, Capovilla G, Pruna D, Freri E, D'Arrigo S, Verrotti A
Am J Med Genet A 2016 Jan;170A(1):148-55. Epub 2015 Oct 5 doi: 10.1002/ajmg.a.37410. PMID: 26437767
Grossman M, Farmer J, Leight S, Work M, Moore P, Van Deerlin V, Pratico D, Clark CM, Coslett HB, Chatterjee A, Gee J, Trojanowski JQ, Lee VM
Ann Neurol 2005 May;57(5):721-9. doi: 10.1002/ana.20477. PMID: 15852395
Jutila L, Immonen A, Mervaala E, Partanen J, Partanen K, Puranen M, Kälviäinen R, Alafuzoff I, Hurskainen H, Vapalahti M, Ylinen A
J Neurol Neurosurg Psychiatry 2002 Nov;73(5):486-94. doi: 10.1136/jnnp.73.5.486. PMID: 12397139Free PMC Article
Mattman A, Feldman H, Forster B, Li D, Szasz I, Beattie BL, Schulzer M
Can J Neurol Sci 1997 Feb;24(1):22-8. doi: 10.1017/s0317167100021041. PMID: 9043743

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