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Absent mesencephalon

MedGen UID:
425884
Concept ID:
CN006354
Finding
 

Definition

Agenesis of the midbrain. [from HPO]

Recent clinical studies

Etiology

Botha H, Whitwell JL, Madhaven A, Senjem ML, Lowe V, Josephs KA
Parkinsonism Relat Disord 2014 Feb;20(2):180-5. Epub 2013 Nov 4 doi: 10.1016/j.parkreldis.2013.10.023. [Epub ahead of print] PMID: 24252300
Lachmann R, Sodre D, Barmpas M, Akolekar R, Nicolaides KH
Fetal Diagn Ther 2013;33(1):41-6. Epub 2012 Jul 31 doi: 10.1159/000339943. [Epub ahead of print] PMID: 22854275
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D
Brain 2012 May;135(Pt 5):1370-86. Epub 2012 Mar 26 doi: 10.1093/brain/aws065. [Epub ahead of print] PMID: 22451504Free PMC Article
Kulkarni AV, Chumas PD, Drake JM, Armstrong DC
Can J Neurol Sci 1999 Feb;26(1):40-3. PMID: 10068806
Henderson BT, Clough CG, Hughes RC, Hitchcock ER, Kenny BG
Arch Neurol 1991 Aug;48(8):822-7. PMID: 1898256

Diagnosis

Botha H, Whitwell JL, Madhaven A, Senjem ML, Lowe V, Josephs KA
Parkinsonism Relat Disord 2014 Feb;20(2):180-5. Epub 2013 Nov 4 doi: 10.1016/j.parkreldis.2013.10.023. [Epub ahead of print] PMID: 24252300
Lachmann R, Sodre D, Barmpas M, Akolekar R, Nicolaides KH
Fetal Diagn Ther 2013;33(1):41-6. Epub 2012 Jul 31 doi: 10.1159/000339943. [Epub ahead of print] PMID: 22854275
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D
Brain 2012 May;135(Pt 5):1370-86. Epub 2012 Mar 26 doi: 10.1093/brain/aws065. [Epub ahead of print] PMID: 22451504Free PMC Article
Lee CC, Lin SZ, Wang Y, Lin JJ, Liu JY, Chen GJ, Chiang YH, Liu JC, Zhou FC
Acta Neurochir Suppl 2003;87:159-62. PMID: 14518545
Kulkarni AV, Chumas PD, Drake JM, Armstrong DC
Can J Neurol Sci 1999 Feb;26(1):40-3. PMID: 10068806

Therapy

Cummings JL, Fine MJ, Grachev ID, Jarecke CR, Johnson MK, Kuo PH, Schaecher KL, Oberdorf JA, Rezak M, Riley DE, Truong D
Am J Manag Care 2014 Mar;20(5 Suppl):S97-109. PMID: 24773455
Thevathasan W, Pogosyan A, Hyam JA, Jenkinson N, Bogdanovic M, Coyne TJ, Silburn PA, Aziz TZ, Brown P
Brain 2011 Jul;134(Pt 7):2085-95. doi: 10.1093/brain/awr131. PMID: 21705424Free PMC Article
Tan KR, Rudolph U, Lüscher C
Trends Neurosci 2011 Apr;34(4):188-97. Epub 2011 Feb 25 doi: 10.1016/j.tins.2011.01.004. [Epub ahead of print] PMID: 21353710Free PMC Article
Kulkarni AV, Chumas PD, Drake JM, Armstrong DC
Can J Neurol Sci 1999 Feb;26(1):40-3. PMID: 10068806
Henderson BT, Clough CG, Hughes RC, Hitchcock ER, Kenny BG
Arch Neurol 1991 Aug;48(8):822-7. PMID: 1898256

Prognosis

Griessenauer CJ, Loukas M, Tubbs RS, Cohen-Gadol AA
Br J Neurosurg 2014 Jan;28(1):81-5. Epub 2013 Jul 8 doi: 10.3109/02688697.2013.812181. [Epub ahead of print] PMID: 23834662
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D
Brain 2012 May;135(Pt 5):1370-86. Epub 2012 Mar 26 doi: 10.1093/brain/aws065. [Epub ahead of print] PMID: 22451504Free PMC Article
Sarnat HB, Benjamin DR, Siebert JR, Kletter GB, Cheyette SR
Pediatr Dev Pathol 2002 Jan-Feb;5(1):54-68. PMID: 11815869
Kulkarni AV, Chumas PD, Drake JM, Armstrong DC
Can J Neurol Sci 1999 Feb;26(1):40-3. PMID: 10068806
Toutant SM, Klauber MR, Marshall LF, Toole BM, Bowers SA, Seelig JM, Varnell JB
J Neurosurg 1984 Oct;61(4):691-4. doi: 10.3171/jns.1984.61.4.0691. PMID: 6470778

Clinical prediction guides

Griessenauer CJ, Loukas M, Tubbs RS, Cohen-Gadol AA
Br J Neurosurg 2014 Jan;28(1):81-5. Epub 2013 Jul 8 doi: 10.3109/02688697.2013.812181. [Epub ahead of print] PMID: 23834662
Lachmann R, Sodre D, Barmpas M, Akolekar R, Nicolaides KH
Fetal Diagn Ther 2013;33(1):41-6. Epub 2012 Jul 31 doi: 10.1159/000339943. [Epub ahead of print] PMID: 22854275
Lee CC, Lin SZ, Wang Y, Lin JJ, Liu JY, Chen GJ, Chiang YH, Liu JC, Zhou FC
Acta Neurochir Suppl 2003;87:159-62. PMID: 14518545
McGuire SO, Ling ZD, Lipton JW, Sortwell CE, Collier TJ, Carvey PM
Exp Neurol 2001 Jun;169(2):219-30. doi: 10.1006/exnr.2001.7688. PMID: 11358437
Toutant SM, Klauber MR, Marshall LF, Toole BM, Bowers SA, Seelig JM, Varnell JB
J Neurosurg 1984 Oct;61(4):691-4. doi: 10.3171/jns.1984.61.4.0691. PMID: 6470778

Recent systematic reviews

Wong JC, Armstrong MJ, Lang AE, Hazrati LN
Mov Disord 2013 Mar;28(3):274-81. Epub 2012 Oct 31 doi: 10.1002/mds.25232. [Epub ahead of print] PMID: 23114877

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