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  • "Atrophy/Degeneration of the corpus callosum" has been replaced by C0431370, showing C0431370

Corpus callosum atrophy

MedGen UID:
96560
Concept ID:
C0431370
Disease or Syndrome; Finding
Synonyms: Atrophic corpus callosum; Atrophy of the corpus callosum; Atrophy/Degeneration of the corpus callosum
SNOMED CT: Atrophy of corpus callosum (253142006)
 
HPO: HP:0007371

Definition

The presence of atrophy (wasting) of the corpus callosum. [from HPO]

Conditions with this feature

Bifunctional peroxisomal enzyme deficiency
MedGen UID:
137982
Concept ID:
C0342870
Pathologic Function
D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (264470), caused by mutation in the ACOX1 gene (609751) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD; 300100), Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (NALD; see 601539) (Watkins et al., 1995). DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1; 233400). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
MedGen UID:
324768
Concept ID:
C1837329
Disease or Syndrome
Leukodystrophy, hypomyelinating 3
MedGen UID:
342403
Concept ID:
C1850053
Disease or Syndrome
Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010). The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD; 312080), which is caused by mutation in the PLP1 gene (300401). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
L-2-hydroxyglutaric aciduria
MedGen UID:
341029
Concept ID:
C1855995
Disease or Syndrome
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).The main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.L-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.
Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
MedGen UID:
341669
Concept ID:
C1856990
Disease or Syndrome
Leukodystrophy, adult-onset, autosomal dominant
MedGen UID:
356995
Concept ID:
C1868512
Disease or Syndrome
Autosomal dominant leukodystrophy with autonomic disease (ADLD) is a slowly progressive disorder of central nervous system white matter characterized by onset of autonomic dysfunction in the fourth to fifth decade, followed in months to years by pyramidal and cerebellar involvement. Autonomic dysfunction can include bladder dysfunction, constipation, postural hypotension, feeding difficulties, erectile dysfunction, and (less often) impaired sweating. Pyramidal signs are often more prominent in the lower extremities (i.e., spastic weakness, hypertonia, clonus, brisk deep tendon reflexes, and bilateral Babinski signs). Cerebellar signs typically appear at the same time as the pyramidal signs and can include gait ataxia, dysdiadochokinesia, intention tremor, dysmetria, and nystagmus. Although cognitive function is usually preserved or only mildly impaired early in the disease course, dementia and psychiatric manifestations can occur as late manifestations. Affected individuals may survive for decades after onset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
MedGen UID:
815307
Concept ID:
C3808977
Disease or Syndrome
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).

Recent clinical studies

Etiology

Elahi S, Bachman AH, Lee SH, Sidtis JJ, Ardekani BA; Alzheimer's Disease Neuroimaging Initiative.
J Alzheimers Dis 2015;45(3):921-31. doi: 10.3233/JAD-142631. PMID: 25633676Free PMC Article
Granberg T, Martola J, Bergendal G, Shams S, Damangir S, Aspelin P, Fredrikson S, Kristoffersen-Wiberg M
Mult Scler 2015 Aug;21(9):1151-8. Epub 2014 Dec 5 doi: 10.1177/1352458514560928. PMID: 25480866
Kinoshita M, Kondo Y, Yoshida K, Fukushima K, Hoshi K, Ishizawa K, Araki N, Yazawa I, Washimi Y, Saitoh B, Kira J, Ikeda S
Intern Med 2014;53(1):21-7. PMID: 24390523
Vaneckova M, Kalincik T, Krasensky J, Horakova D, Havrdova E, Hrebikova T, Seidl Z
Eur Neurol 2012;68(1):23-7. Epub 2012 Jun 6 doi: 10.1159/000337683. PMID: 22677920
Jokinen H, Ryberg C, Kalska H, Ylikoski R, Rostrup E, Stegmann MB, Waldemar G, Madureira S, Ferro JM, van Straaten EC, Scheltens P, Barkhof F, Fazekas F, Schmidt R, Carlucci G, Pantoni L, Inzitari D, Erkinjuntti T; LADIS group.
J Neurol Neurosurg Psychiatry 2007 May;78(5):491-6. Epub 2006 Oct 6 doi: 10.1136/jnnp.2006.096792. PMID: 17028118Free PMC Article

Diagnosis

Klawiter EC, Ceccarelli A, Arora A, Jackson J, Bakshi S, Kim G, Miller J, Tauhid S, von Gizycki C, Bakshi R, Neema M
J Neuroimaging 2015 Jan-Feb;25(1):62-7. Epub 2014 May 9 doi: 10.1111/jon.12124. PMID: 24816394Free PMC Article
Kinoshita M, Kondo Y, Yoshida K, Fukushima K, Hoshi K, Ishizawa K, Araki N, Yazawa I, Washimi Y, Saitoh B, Kira J, Ikeda S
Intern Med 2014;53(1):21-7. PMID: 24390523
Vaneckova M, Kalincik T, Krasensky J, Horakova D, Havrdova E, Hrebikova T, Seidl Z
Eur Neurol 2012;68(1):23-7. Epub 2012 Jun 6 doi: 10.1159/000337683. PMID: 22677920
Zhu M, Gao W, Wang X, Shi C, Lin Z
Acad Radiol 2012 May;19(5):512-7. Epub 2012 Feb 18 doi: 10.1016/j.acra.2012.01.006. PMID: 22342652Free PMC Article
Lee ST, Jung YM, Na DL, Park SH, Kim M
J Neuroimaging 2005 Oct;15(4):367-72. doi: 10.1177/1051228405278352. PMID: 16254403

Therapy

Kale N, Agaoglu J, Tanik O
Neurol Res 2010 Oct;32(8):886-90. Epub 2009 Oct 12 doi: 10.1179/016164109X12445616596526. PMID: 19825276
Appenzeller S, Rondina JM, Li LM, Costallat LT, Cendes F
Arthritis Rheum 2005 Sep;52(9):2783-9. doi: 10.1002/art.21271. PMID: 16142703
Meguro K, Constans JM, Shimada M, Yamaguchi S, Ishizaki J, Ishii H, Yamadori A, Sekita Y
Int Psychogeriatr 2003 Mar;15(1):9-25. PMID: 12834197
Oishi M, Mochizuki Y, Shikata E
J Neurol Sci 1999 Jan 1;162(1):51-5. PMID: 10064168
Yamauchi H, Fukuyama H, Nagahama Y, Katsumi Y, Dong Y, Konishi J, Kimura J
Ann Neurol 1997 May;41(5):606-14. doi: 10.1002/ana.410410509. PMID: 9153522

Prognosis

Vaneckova M, Kalincik T, Krasensky J, Horakova D, Havrdova E, Hrebikova T, Seidl Z
Eur Neurol 2012;68(1):23-7. Epub 2012 Jun 6 doi: 10.1159/000337683. PMID: 22677920
Zhu M, Gao W, Wang X, Shi C, Lin Z
Acad Radiol 2012 May;19(5):512-7. Epub 2012 Feb 18 doi: 10.1016/j.acra.2012.01.006. PMID: 22342652Free PMC Article
Ryberg C, Rostrup E, Paulson OB, Barkhof F, Scheltens P, van Straaten EC, van der Flier WM, Fazekas F, Schmidt R, Ferro JM, Baezner H, Erkinjuntti T, Jokinen H, Wahlund LO, Poggesi A, Pantoni L, Inzitari D, Waldemar G; LADIS study group.
J Neurol Sci 2011 Aug 15;307(1-2):100-5. Epub 2011 May 31 doi: 10.1016/j.jns.2011.05.002. PMID: 21621224
Teipel SJ, Bayer W, Alexander GE, Zebuhr Y, Teichberg D, Kulic L, Schapiro MB, Möller HJ, Rapoport SI, Hampel H
Arch Neurol 2002 Feb;59(2):243-8. PMID: 11843695
Yamauchi H, Fukuyama H, Shio H
Stroke 2000 Jul;31(7):1515-20. PMID: 10884446

Clinical prediction guides

Elahi S, Bachman AH, Lee SH, Sidtis JJ, Ardekani BA; Alzheimer's Disease Neuroimaging Initiative.
J Alzheimers Dis 2015;45(3):921-31. doi: 10.3233/JAD-142631. PMID: 25633676Free PMC Article
Kinoshita M, Kondo Y, Yoshida K, Fukushima K, Hoshi K, Ishizawa K, Araki N, Yazawa I, Washimi Y, Saitoh B, Kira J, Ikeda S
Intern Med 2014;53(1):21-7. PMID: 24390523
Yaldizli Ö, Penner IK, Frontzek K, Naegelin Y, Amann M, Papadopoulou A, Sprenger T, Kuhle J, Calabrese P, Radü EW, Kappos L, Gass A
Mult Scler 2014 Mar;20(3):356-64. Epub 2013 Aug 19 doi: 10.1177/1352458513496880. PMID: 23959709
Vaneckova M, Kalincik T, Krasensky J, Horakova D, Havrdova E, Hrebikova T, Seidl Z
Eur Neurol 2012;68(1):23-7. Epub 2012 Jun 6 doi: 10.1159/000337683. PMID: 22677920
Jokinen H, Ryberg C, Kalska H, Ylikoski R, Rostrup E, Stegmann MB, Waldemar G, Madureira S, Ferro JM, van Straaten EC, Scheltens P, Barkhof F, Fazekas F, Schmidt R, Carlucci G, Pantoni L, Inzitari D, Erkinjuntti T; LADIS group.
J Neurol Neurosurg Psychiatry 2007 May;78(5):491-6. Epub 2006 Oct 6 doi: 10.1136/jnnp.2006.096792. PMID: 17028118Free PMC Article

Recent systematic reviews

Wang XD, Ren M, Zhu MW, Gao WP, Zhang J, Shen H, Lin ZG, Feng HL, Zhao CJ, Gao K
J Psychiatr Res 2015 Apr;63:10-9. Epub 2015 Feb 24 doi: 10.1016/j.jpsychires.2015.02.005. PMID: 25748753

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