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Motor neuron disease with dementia and ophthalmoplegia

MedGen UID:
324986
Concept ID:
C1838253
Disease or Syndrome
Synonyms: Motor Neuron Disease with Dementia and Ophthalmoplegia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 600333

Clinical features

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.
Degeneration of anterior horn cells
MedGen UID:
375215
Concept ID:
C1843505
Finding
Bulbar signs
MedGen UID:
347246
Concept ID:
C1856507
Finding
Astrocytosis
MedGen UID:
854483
Concept ID:
C3887640
Pathologic Function
Proliferation of astrocytes in the area of a lesion of the central nervous system.
Cerebral atrophy
MedGen UID:
892664
Concept ID:
C4020860
Disease or Syndrome
Corticospinal tract pallor
MedGen UID:
870252
Concept ID:
C4024690
Finding
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)
Respiratory failure
MedGen UID:
257837
Concept ID:
C1145670
Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.

Recent clinical studies

Etiology

Agosta F, Galantucci S, Magnani G, Marcone A, Martinelli D, Antonietta Volontè M, Riva N, Iannaccone S, Ferraro PM, Caso F, Chiò A, Comi G, Falini A, Filippi M
Hum Brain Mapp 2015 Jul;36(7):2602-14. Epub 2015 Mar 28 doi: 10.1002/hbm.22794. PMID: 25821176
Goedert M, Ghetti B, Spillantini MG
Cold Spring Harb Perspect Med 2012 Feb;2(2):a006254. doi: 10.1101/cshperspect.a006254. PMID: 22355793Free PMC Article
Kurz AF
Int Psychogeriatr 2005;17 Suppl 1:S35-49. PMID: 16240482
Mott RT, Dickson DW, Trojanowski JQ, Zhukareva V, Lee VM, Forman M, Van Deerlin V, Ervin JF, Wang DS, Schmechel DE, Hulette CM
J Neuropathol Exp Neurol 2005 May;64(5):420-8. PMID: 15892300
Cairns NJ, Grossman M, Arnold SE, Burn DJ, Jaros E, Perry RH, Duyckaerts C, Stankoff B, Pillon B, Skullerud K, Cruz-Sanchez FF, Bigio EH, Mackenzie IR, Gearing M, Juncos JL, Glass JD, Yokoo H, Nakazato Y, Mosaheb S, Thorpe JR, Uryu K, Lee VM, Trojanowski JQ
Neurology 2004 Oct 26;63(8):1376-84. PMID: 15505152Free PMC Article

Diagnosis

Perry DC, Brown JA, Possin KL, Datta S, Trujillo A, Radke A, Karydas A, Kornak J, Sias AC, Rabinovici GD, Gorno-Tempini ML, Boxer AL, De May M, Rankin KP, Sturm VE, Lee SE, Matthews BR, Kao AW, Vossel KA, Tartaglia MC, Miller ZA, Seo SW, Sidhu M, Gaus SE, Nana AL, Vargas JNS, Hwang JL, Ossenkoppele R, Brown AB, Huang EJ, Coppola G, Rosen HJ, Geschwind D, Trojanowski JQ, Grinberg LT, Kramer JH, Miller BL, Seeley WW
Brain 2017 Dec 1;140(12):3329-3345. doi: 10.1093/brain/awx254. PMID: 29053860Free PMC Article
Galvin JE, Howard DH, Denny SS, Dickinson S, Tatton N
Neurology 2017 Nov 14;89(20):2049-2056. Epub 2017 Oct 4 doi: 10.1212/WNL.0000000000004614. PMID: 28978658Free PMC Article
Olney NT, Spina S, Miller BL
Neurol Clin 2017 May;35(2):339-374. doi: 10.1016/j.ncl.2017.01.008. PMID: 28410663Free PMC Article
Nagao S, Yokota O, Nanba R, Takata H, Haraguchi T, Ishizu H, Ikeda C, Takeda N, Oshima E, Sakane K, Terada S, Ihara Y, Uchitomi Y
J Neurol Sci 2012 Dec 15;323(1-2):147-53. Epub 2012 Sep 29 doi: 10.1016/j.jns.2012.09.005. PMID: 23026537
Josephs KA
Ann Neurol 2008 Jul;64(1):4-14. doi: 10.1002/ana.21426. PMID: 18668533

Therapy

Kertesz A
Cogn Behav Neurol 2008 Sep;21(3):127-33. doi: 10.1097/WNN.0b013e31818a8c66. PMID: 18797253
Sohn YK, Ganju N, Bloch KD, Wands JR, de la Monte SM
J Neurol Sci 1999 Jan 15;162(2):133-51. PMID: 10202979
Albert ML, Feldman RG, Willis AL
J Neurol Neurosurg Psychiatry 1974 Feb;37(2):121-30. PMID: 4819905Free PMC Article
Powell HC, London GW, Lampert PW
J Neuropathol Exp Neurol 1974 Jan;33(1):98-106. PMID: 4812327
Barbeau A
Can Med Assoc J 1970 Oct 17;103(8):824-32. PMID: 4248929Free PMC Article

Prognosis

Perry DC, Brown JA, Possin KL, Datta S, Trujillo A, Radke A, Karydas A, Kornak J, Sias AC, Rabinovici GD, Gorno-Tempini ML, Boxer AL, De May M, Rankin KP, Sturm VE, Lee SE, Matthews BR, Kao AW, Vossel KA, Tartaglia MC, Miller ZA, Seo SW, Sidhu M, Gaus SE, Nana AL, Vargas JNS, Hwang JL, Ossenkoppele R, Brown AB, Huang EJ, Coppola G, Rosen HJ, Geschwind D, Trojanowski JQ, Grinberg LT, Kramer JH, Miller BL, Seeley WW
Brain 2017 Dec 1;140(12):3329-3345. doi: 10.1093/brain/awx254. PMID: 29053860Free PMC Article
Nagao S, Yokota O, Nanba R, Takata H, Haraguchi T, Ishizu H, Ikeda C, Takeda N, Oshima E, Sakane K, Terada S, Ihara Y, Uchitomi Y
J Neurol Sci 2012 Dec 15;323(1-2):147-53. Epub 2012 Sep 29 doi: 10.1016/j.jns.2012.09.005. PMID: 23026537
Josephs KA, Petersen RC, Knopman DS, Boeve BF, Whitwell JL, Duffy JR, Parisi JE, Dickson DW
Neurology 2006 Jan 10;66(1):41-8. doi: 10.1212/01.wnl.0000191307.69661.c3. PMID: 16401843
Cairns NJ, Grossman M, Arnold SE, Burn DJ, Jaros E, Perry RH, Duyckaerts C, Stankoff B, Pillon B, Skullerud K, Cruz-Sanchez FF, Bigio EH, Mackenzie IR, Gearing M, Juncos JL, Glass JD, Yokoo H, Nakazato Y, Mosaheb S, Thorpe JR, Uryu K, Lee VM, Trojanowski JQ
Neurology 2004 Oct 26;63(8):1376-84. PMID: 15505152Free PMC Article
Komachi H, Okeda R, Ishii N, Yanagisawa K, Yamada M, Miyatake T
J Neurol 1994 Oct;241(10):592-6. PMID: 7836962

Clinical prediction guides

Perry DC, Brown JA, Possin KL, Datta S, Trujillo A, Radke A, Karydas A, Kornak J, Sias AC, Rabinovici GD, Gorno-Tempini ML, Boxer AL, De May M, Rankin KP, Sturm VE, Lee SE, Matthews BR, Kao AW, Vossel KA, Tartaglia MC, Miller ZA, Seo SW, Sidhu M, Gaus SE, Nana AL, Vargas JNS, Hwang JL, Ossenkoppele R, Brown AB, Huang EJ, Coppola G, Rosen HJ, Geschwind D, Trojanowski JQ, Grinberg LT, Kramer JH, Miller BL, Seeley WW
Brain 2017 Dec 1;140(12):3329-3345. doi: 10.1093/brain/awx254. PMID: 29053860Free PMC Article
Nagao S, Yokota O, Nanba R, Takata H, Haraguchi T, Ishizu H, Ikeda C, Takeda N, Oshima E, Sakane K, Terada S, Ihara Y, Uchitomi Y
J Neurol Sci 2012 Dec 15;323(1-2):147-53. Epub 2012 Sep 29 doi: 10.1016/j.jns.2012.09.005. PMID: 23026537
Rusina R, Kovacs GG, Fiala J, Hort J, Ridzoň P, Holmerová I, Ströbel T, Matěj R
BMC Neurol 2011 May 10;11:50. doi: 10.1186/1471-2377-11-50. PMID: 21569259Free PMC Article
Josephs KA, Petersen RC, Knopman DS, Boeve BF, Whitwell JL, Duffy JR, Parisi JE, Dickson DW
Neurology 2006 Jan 10;66(1):41-8. doi: 10.1212/01.wnl.0000191307.69661.c3. PMID: 16401843
Komachi H, Okeda R, Ishii N, Yanagisawa K, Yamada M, Miyatake T
J Neurol 1994 Oct;241(10):592-6. PMID: 7836962

Recent systematic reviews

Hoppitt T, Pall H, Calvert M, Gill P, Yao G, Ramsay J, James G, Conduit J, Sackley C
Neuroepidemiology 2011;36(1):19-28. Epub 2010 Nov 17 doi: 10.1159/000321712. PMID: 21088431Free PMC Article

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