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Diffuse leukoencephalopathy

MedGen UID:
358229
Concept ID:
C1868514
Finding
Synonyms: Leukoencephalopathy, diffuse
 
HPO: HP:0006994

Term Hierarchy

Conditions with this feature

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.

Recent clinical studies

Etiology

Granberg T, Hashim F, Andersen O, Sundal C, Karrenbauer VD
Eur J Neurol 2016 Apr;23(4):817-22. Epub 2016 Jan 12 doi: 10.1111/ene.12948. PMID: 26756564
Hayashi R, Kitazawa K, Sanada D, Kato N, Ohkoshi T, Katsumata Y, Yamaguchi S
Intern Med 2015;54(21):2753-8. Epub 2015 Nov 1 doi: 10.2169/internalmedicine.54.4938. PMID: 26521906
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
Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L
Neurology 2013 Dec 3;81(23):2039-44. Epub 2013 Nov 6 doi: 10.1212/01.wnl.0000436945.01023.ac. PMID: 24198292
Sundal C, Lash J, Aasly J, Øygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK
J Neurol Sci 2012 Mar 15;314(1-2):130-7. Epub 2011 Nov 1 doi: 10.1016/j.jns.2011.10.006. PMID: 22050953Free PMC Article

Diagnosis

Shu Y, Long L, Liao S, Yang J, Li J, Qiu W, Yang Y, Bao J, Wu A, Hu X, Lu Z
BMC Neurol 2016 Sep 13;16:171. doi: 10.1186/s12883-016-0694-0. PMID: 27619214Free PMC Article
Stabile C, Taglia I, Battisti C, Bianchi S, Federico A
Neurol Sci 2016 Sep;37(9):1565-9. Epub 2016 Jun 23 doi: 10.1007/s10072-016-2634-6. PMID: 27338940
Robinson JL, Suh E, Wood EM, Lee EB, Coslett HB, Raible K, Lee VM, Trojanowski JQ, Van Deerlin VM
Acta Neuropathol Commun 2015 Jul 4;3:42. doi: 10.1186/s40478-015-0219-x. PMID: 26141825Free PMC Article
Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O
Eur J Neurol 2015 Feb;22(2):328-333. Epub 2014 Oct 13 doi: 10.1111/ene.12572. PMID: 25311247Free PMC Article
Bender B, Klose U, Lindig T, Biskup S, Nägele T, Schöls L, Karle KN
J Neurol 2014 Dec;261(12):2351-9. Epub 2014 Sep 20 doi: 10.1007/s00415-014-7509-2. PMID: 25239393

Therapy

Mehanna R, Jimenez-Shahed J, Itin I
Am J Case Rep 2016 Dec 2;17:916-920. PMID: 27909286Free PMC Article
Hasegawa C, Inagaki A, Yamada G, Morita K, Kitamura I, Ariyoshi K
Intern Med 2016;55(22):3393-3398. Epub 2016 Nov 15 doi: 10.2169/internalmedicine.55.7069. PMID: 27853090Free PMC Article
Hayashi R, Kitazawa K, Sanada D, Kato N, Ohkoshi T, Katsumata Y, Yamaguchi S
Intern Med 2015;54(21):2753-8. Epub 2015 Nov 1 doi: 10.2169/internalmedicine.54.4938. PMID: 26521906
Ge W, Kuang H, Wei B, Bo L, Xu Z, Xu X, Geng D, Sun M
PLoS One 2014;9(8):e104533. Epub 2014 Aug 6 doi: 10.1371/journal.pone.0104533. PMID: 25098330Free PMC Article
Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK
Parkinsonism Relat Disord 2013 Oct;19(10):869-77. Epub 2013 Jun 17 doi: 10.1016/j.parkreldis.2013.05.013. PMID: 23787135Free PMC Article

Prognosis

Shu Y, Long L, Liao S, Yang J, Li J, Qiu W, Yang Y, Bao J, Wu A, Hu X, Lu Z
BMC Neurol 2016 Sep 13;16:171. doi: 10.1186/s12883-016-0694-0. PMID: 27619214Free PMC Article
Kawakami I, Iseki E, Kasanuki K, Minegishi M, Sato K, Hino H, Shibuya K, Fujisawa K, Higashi S, Akiyama H, Furuta A, Takanashi M, Li Y, Hattori N, Mitsuyama Y, Arai H
J Neurol Sci 2016 Aug 15;367:349-55. Epub 2016 Jun 7 doi: 10.1016/j.jns.2016.06.013. PMID: 27423618
Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O
Eur J Neurol 2015 Feb;22(2):328-333. Epub 2014 Oct 13 doi: 10.1111/ene.12572. PMID: 25311247Free PMC Article
Bender B, Klose U, Lindig T, Biskup S, Nägele T, Schöls L, Karle KN
J Neurol 2014 Dec;261(12):2351-9. Epub 2014 Sep 20 doi: 10.1007/s00415-014-7509-2. PMID: 25239393
Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L
Neurology 2013 Dec 3;81(23):2039-44. Epub 2013 Nov 6 doi: 10.1212/01.wnl.0000436945.01023.ac. PMID: 24198292

Clinical prediction guides

Kawakami I, Iseki E, Kasanuki K, Minegishi M, Sato K, Hino H, Shibuya K, Fujisawa K, Higashi S, Akiyama H, Furuta A, Takanashi M, Li Y, Hattori N, Mitsuyama Y, Arai H
J Neurol Sci 2016 Aug 15;367:349-55. Epub 2016 Jun 7 doi: 10.1016/j.jns.2016.06.013. PMID: 27423618
Granberg T, Hashim F, Andersen O, Sundal C, Karrenbauer VD
Eur J Neurol 2016 Apr;23(4):817-22. Epub 2016 Jan 12 doi: 10.1111/ene.12948. PMID: 26756564
Riku Y, Ando T, Goto Y, Mano K, Iwasaki Y, Sobue G, Yoshida M
J Neuropathol Exp Neurol 2014 Dec;73(12):1183-90. doi: 10.1097/NEN.0000000000000139. PMID: 25383640
Bender B, Klose U, Lindig T, Biskup S, Nägele T, Schöls L, Karle KN
J Neurol 2014 Dec;261(12):2351-9. Epub 2014 Sep 20 doi: 10.1007/s00415-014-7509-2. PMID: 25239393
Terasawa Y, Osaki Y, Kawarai T, Sugimoto T, Orlacchio A, Abe T, Izumi Y, Kaji R
J Neurol Sci 2013 Dec 15;335(1-2):213-5. Epub 2013 Aug 30 doi: 10.1016/j.jns.2013.08.027. PMID: 24094860

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