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Frontal cortical atrophy

MedGen UID:
870517
Concept ID:
C4024965
Anatomical Abnormality
Synonym: Frontal cortex degeneration
 
HPO: HP:0006913

Definition

Atrophy of the frontal cortex. [from HPO]

Term Hierarchy

Conditions with this feature

Huntington disease-like 3
MedGen UID:
347622
Concept ID:
C1858114
Disease or Syndrome
A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.
Syndromic X-linked intellectual disability 94
MedGen UID:
437111
Concept ID:
C2678051
Disease or Syndrome
A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.
Intellectual disability, autosomal dominant 43
MedGen UID:
934738
Concept ID:
C4310771
Mental or Behavioral Dysfunction
HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features). Early symptoms of the condition include weak muscle tone (hypotonia) and delayed development of motor skills, such as sitting, standing, and walking. After learning to walk, many affected individuals continue to have difficulty with this activity; their walking style (gait) is often unbalanced and wide-based. Speech is also delayed, and some people with this condition never learn to talk. Most people with HIVEP2-related intellectual disability also have unusual physical features, such as widely spaced eyes (hypertelorism), a broad nasal bridge, or fingers with tapered ends, although there is no characteristic pattern of such features among affected individuals. Many people with the condition exhibit neurodevelopmental disorders, such as hyperactivity, attention deficit disorder, aggression, anxiety, and autism spectrum disorder, which is a group of developmental disorders characterized by impaired communication and social interaction.\n\nOther features of HIVEP2-related intellectual disability include mild abnormalities in the structure of the brain and an abnormally small brain and head size (microcephaly). Less common health problems include seizures; recurrent ear infections; and eye disorders, such as eyes that do not look in the same direction (strabismus), "lazy eye" (amblyopia), and farsightedness (hyperopia). Some people with HIVEP2-related intellectual disability have gastrointestinal problems, which can include backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation.
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.
Developmental and epileptic encephalopathy, 75
MedGen UID:
1684253
Concept ID:
C5193099
Disease or Syndrome
Developmental and epileptic encephalopathy-75 (DEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients often have global developmental delay before the onset of seizures, and thereafter achieve few milestones. EEG usually shows multifocal spikes and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by Yin et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
MedGen UID:
1684706
Concept ID:
C5231494
Disease or Syndrome
Neurogenic arthrogryposis multiplex congenita-4 with agenesis of the corpus callosum (AMC4) is a severe neurologic disorder with onset in utero. Affected individuals show little or no fetal movements and are born with significant contractures affecting the upper and lower limbs, as well as dysmorphic facial features. Other abnormalities include globally impaired development, optic atrophy, agenesis of the corpus callosum, seizures, and peripheral neuropathy. Many patients die in early childhood (summary by Seidahmed et al., 2020).

Professional guidelines

PubMed

Gazdzinski SP, Mojkowska A, Gaździńska A, Gorycka M, Zieliński P, Pacho R
Obes Res Clin Pract 2021 Sep-Oct;15(5):455-460. Epub 2021 Aug 20 doi: 10.1016/j.orcp.2021.08.002. PMID: 34426101
Liu Y, Yu JT, Wang HF, Han PR, Tan CC, Wang C, Meng XF, Risacher SL, Saykin AJ, Tan L
J Neurol Neurosurg Psychiatry 2015 Feb;86(2):127-34. Epub 2014 May 16 doi: 10.1136/jnnp-2014-307719. PMID: 24838911Free PMC Article
Cardarelli R, Kertesz A, Knebl JA
Am Fam Physician 2010 Dec 1;82(11):1372-7. PMID: 21121521

Recent clinical studies

Etiology

Sellami L, Bocchetta M, Masellis M, Cash DM, Dick KM, van Swieten J, Borroni B, Galimberti D, Tartaglia MC, Rowe JB, Graff C, Tagliavini F, Frisoni G, Finger E, de Mendonça A, Sorbi S, Warren JD, Rohrer JD, Laforce R; Genetic FTD Initiative, GENFI
J Alzheimers Dis 2018;65(1):147-163. doi: 10.3233/JAD-180053. PMID: 30010122Free PMC Article
Nishio Y, Yokoi K, Uchiyama M, Mamiya Y, Watanabe H, Gang M, Baba T, Takeda A, Hirayama K, Mori E
J Neurol Neurosurg Psychiatry 2017 Sep;88(9):722-729. Epub 2017 Jun 9 doi: 10.1136/jnnp-2017-315741. PMID: 28600444
Lansdall CJ, Coyle-Gilchrist ITS, Jones PS, Vázquez Rodríguez P, Wilcox A, Wehmann E, Dick KM, Robbins TW, Rowe JB
Brain 2017 Jun 1;140(6):1792-1807. doi: 10.1093/brain/awx101. PMID: 28486594Free PMC Article
Möller C, Dieleman N, van der Flier WM, Versteeg A, Pijnenburg Y, Scheltens P, Barkhof F, Vrenken H
J Alzheimers Dis 2015;44(2):635-47. doi: 10.3233/JAD-141230. PMID: 25322925
Adam P, Fabre N, Guell A, Bessoles G, Roulleau J, Bès A
AJNR Am J Neuroradiol 1983 May-Jun;4(3):442-5. PMID: 6410767Free PMC Article

Diagnosis

Lansdall CJ, Coyle-Gilchrist ITS, Jones PS, Vázquez Rodríguez P, Wilcox A, Wehmann E, Dick KM, Robbins TW, Rowe JB
Brain 2017 Jun 1;140(6):1792-1807. doi: 10.1093/brain/awx101. PMID: 28486594Free PMC Article
Möller C, Dieleman N, van der Flier WM, Versteeg A, Pijnenburg Y, Scheltens P, Barkhof F, Vrenken H
J Alzheimers Dis 2015;44(2):635-47. doi: 10.3233/JAD-141230. PMID: 25322925
Mok V, Wong KK, Xiong Y, Wong A, Schmidt R, Chu W, Hu X, Leung EY, Chen S, Chen Y, Tang WK, Chen X, Ho CL, Wong KS, Wong ST
J Neurol Neurosurg Psychiatry 2011 Jan;82(1):52-7. Epub 2010 Sep 8 doi: 10.1136/jnnp.2009.201665. PMID: 20826875
Ghacibeh GA, Heilman KM
Neurology 2003 Apr 8;60(7):1192-4. doi: 10.1212/01.wnl.0000055870.48864.87. PMID: 12682334
Chopra JS, Radhakrishnan K, Sridharan R
Clin Neurol Neurosurg 1981;83(3):145-52. doi: 10.1016/0303-8467(81)90016-0. PMID: 6274556

Therapy

Lansdall CJ, Coyle-Gilchrist ITS, Jones PS, Vázquez Rodríguez P, Wilcox A, Wehmann E, Dick KM, Robbins TW, Rowe JB
Brain 2017 Jun 1;140(6):1792-1807. doi: 10.1093/brain/awx101. PMID: 28486594Free PMC Article
Mok V, Wong KK, Xiong Y, Wong A, Schmidt R, Chu W, Hu X, Leung EY, Chen S, Chen Y, Tang WK, Chen X, Ho CL, Wong KS, Wong ST
J Neurol Neurosurg Psychiatry 2011 Jan;82(1):52-7. Epub 2010 Sep 8 doi: 10.1136/jnnp.2009.201665. PMID: 20826875
Broussolle E, Bakchine S, Tommasi M, Laurent B, Bazin B, Cinotti L, Cohen L, Chazot G
J Neurol Sci 1996 Dec;144(1-2):44-58. doi: 10.1016/s0022-510x(96)00096-2. PMID: 8994103
Morihisa JM, McAnulty GB
Biol Psychiatry 1985 Jan;20(1):3-19. doi: 10.1016/0006-3223(85)90131-3. PMID: 3965037

Prognosis

Duran T, Woo E, Otero D, Risacher SL, Stage E, Sanjay AB, Nho K, West JD, Phillips ML, Goukasian N, Hwang KS, Apostolova LG
Brain Imaging Behav 2022 Aug;16(4):1495-1503. Epub 2022 Jan 22 doi: 10.1007/s11682-021-00627-0. PMID: 35064438Free PMC Article
Jafri SK, Kumar R, Lashari SK, Chand P
J Pak Med Assoc 2017 Oct;67(10):1609-1611. PMID: 28955085
Mihalov J, Mikula P, Budiš J, Valkovič P
J Geriatr Psychiatry Neurol 2016 Jul;29(4):171-6. Epub 2016 Apr 6 doi: 10.1177/0891988716641248. PMID: 27056065
Mok V, Wong KK, Xiong Y, Wong A, Schmidt R, Chu W, Hu X, Leung EY, Chen S, Chen Y, Tang WK, Chen X, Ho CL, Wong KS, Wong ST
J Neurol Neurosurg Psychiatry 2011 Jan;82(1):52-7. Epub 2010 Sep 8 doi: 10.1136/jnnp.2009.201665. PMID: 20826875
Grosskreutz J, Kaufmann J, Frädrich J, Dengler R, Heinze HJ, Peschel T
BMC Neurol 2006 Apr 25;6:17. doi: 10.1186/1471-2377-6-17. PMID: 16638121Free PMC Article

Clinical prediction guides

Duran T, Woo E, Otero D, Risacher SL, Stage E, Sanjay AB, Nho K, West JD, Phillips ML, Goukasian N, Hwang KS, Apostolova LG
Brain Imaging Behav 2022 Aug;16(4):1495-1503. Epub 2022 Jan 22 doi: 10.1007/s11682-021-00627-0. PMID: 35064438Free PMC Article
Mihalov J, Mikula P, Budiš J, Valkovič P
J Geriatr Psychiatry Neurol 2016 Jul;29(4):171-6. Epub 2016 Apr 6 doi: 10.1177/0891988716641248. PMID: 27056065
Möller C, Dieleman N, van der Flier WM, Versteeg A, Pijnenburg Y, Scheltens P, Barkhof F, Vrenken H
J Alzheimers Dis 2015;44(2):635-47. doi: 10.3233/JAD-141230. PMID: 25322925
Mok V, Wong KK, Xiong Y, Wong A, Schmidt R, Chu W, Hu X, Leung EY, Chen S, Chen Y, Tang WK, Chen X, Ho CL, Wong KS, Wong ST
J Neurol Neurosurg Psychiatry 2011 Jan;82(1):52-7. Epub 2010 Sep 8 doi: 10.1136/jnnp.2009.201665. PMID: 20826875
Kambouris M, Bohlega S, Al-Tahan A, Meyer BF
Am J Hum Genet 2000 Feb;66(2):445-52. doi: 10.1086/302744. PMID: 10677304Free PMC Article

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