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Spinal cord posterior columns myelin loss

MedGen UID:
870266
Concept ID:
C4024706
Finding
HPO: HP:0008311

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinal cord posterior columns myelin loss

Conditions with this feature

Arts syndrome
MedGen UID:
163205
Concept ID:
C0796028
Disease or Syndrome
Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection, all of which – with the exception of optic atrophy – present before age two years. Signs of peripheral neuropathy develop during early childhood. Twelve of 15 boys from the two Dutch families reported with Arts syndrome died before age six years of complications of infection. Carrier females can show late-onset (age >20 years) hearing impairment and other findings.

Recent clinical studies

Etiology

Koike H, Atsuta N, Adachi H, Iijima M, Katsuno M, Yasuda T, Fukada Y, Yasui K, Nakashima K, Horiuchi M, Shiomi K, Fukui K, Takashima S, Morita Y, Kuniyoshi K, Hasegawa Y, Toribe Y, Kajiura M, Takeshita S, Mukai E, Sobue G
Brain 2010 Oct;133(10):2881-96. Epub 2010 Aug 23 doi: 10.1093/brain/awq214. PMID: 20736188
Vorgerd M, Tegenthoff M, Kühne D, Malin JP
Neuroradiology 1996 May;38 Suppl 1:S111-3. doi: 10.1007/BF02278134. PMID: 8811695

Diagnosis

Ando T, Kamoshita S, Riku Y, Ito A, Ozawa Y, Miyamura K, Fujino M, Ito M, Goto Y, Mano K, Akagi A, Miyahara H, Katsuno M, Yoshida M, Iwasaki Y
Neuropathology 2022 Aug;42(4):295-301. Epub 2022 May 23 doi: 10.1111/neup.12807. PMID: 35607714
Azzarito M, Seif M, Kyathanahally S, Curt A, Freund P
Neuroimage Clin 2020;26:102221. Epub 2020 Feb 25 doi: 10.1016/j.nicl.2020.102221. PMID: 32145681Free PMC Article
Dornbos D 3rd, Elder JB, Otero JJ, Baiocchi RA, Slone HW, Puduvalli VK, Giglio P
World Neurosurg 2019 Aug;128:381-384. Epub 2019 May 23 doi: 10.1016/j.wneu.2019.05.123. PMID: 31128312
Pinnix CC, Chi L, Jabbour EJ, Milgrom SA, Smith GL, Daver N, Garg N, Cykowski MD, Fuller G, Cachia D, Kamiya-Matsuoka C, Woodman K, Dinardo C, Jain N, Kadia TM, Pemmaraju N, Ohanian M, Konopleva M, Kantarjian HM, Dabaja BS
Am J Hematol 2017 Feb;92(2):155-160. doi: 10.1002/ajh.24611. PMID: 27874212Free PMC Article
Koike H, Atsuta N, Adachi H, Iijima M, Katsuno M, Yasuda T, Fukada Y, Yasui K, Nakashima K, Horiuchi M, Shiomi K, Fukui K, Takashima S, Morita Y, Kuniyoshi K, Hasegawa Y, Toribe Y, Kajiura M, Takeshita S, Mukai E, Sobue G
Brain 2010 Oct;133(10):2881-96. Epub 2010 Aug 23 doi: 10.1093/brain/awq214. PMID: 20736188

Therapy

Dornbos D 3rd, Elder JB, Otero JJ, Baiocchi RA, Slone HW, Puduvalli VK, Giglio P
World Neurosurg 2019 Aug;128:381-384. Epub 2019 May 23 doi: 10.1016/j.wneu.2019.05.123. PMID: 31128312
Pinnix CC, Chi L, Jabbour EJ, Milgrom SA, Smith GL, Daver N, Garg N, Cykowski MD, Fuller G, Cachia D, Kamiya-Matsuoka C, Woodman K, Dinardo C, Jain N, Kadia TM, Pemmaraju N, Ohanian M, Konopleva M, Kantarjian HM, Dabaja BS
Am J Hematol 2017 Feb;92(2):155-160. doi: 10.1002/ajh.24611. PMID: 27874212Free PMC Article
Bergers E, Bot JC, De Groot CJ, Polman CH, Lycklama à Nijeholt GJ, Castelijns JA, van der Valk P, Barkhof F
Neurology 2002 Dec 10;59(11):1766-71. doi: 10.1212/01.wnl.0000036566.00866.26. PMID: 12473766
Himuro K, Murayama S, Nishiyama K, Shinoe T, Iwase H, Nagao M, Takatori T, Kanazawa I
Neurology 1998 Oct;51(4):1195-7. doi: 10.1212/wnl.51.4.1195. PMID: 9781559

Prognosis

Matsubayashi J, Tsuchiya K, Shimizu S, Kitagawa N, Wakabayashi Y, Kuroda M, Sakurai M, Nagao T
J Spinal Cord Med 2013 Jan;36(1):31-5. doi: 10.1179/2045772312Y.0000000017. PMID: 23433332Free PMC Article
Koike H, Atsuta N, Adachi H, Iijima M, Katsuno M, Yasuda T, Fukada Y, Yasui K, Nakashima K, Horiuchi M, Shiomi K, Fukui K, Takashima S, Morita Y, Kuniyoshi K, Hasegawa Y, Toribe Y, Kajiura M, Takeshita S, Mukai E, Sobue G
Brain 2010 Oct;133(10):2881-96. Epub 2010 Aug 23 doi: 10.1093/brain/awq214. PMID: 20736188
Kuru S, Sakai M, Konagaya M, Yoshida M, Hashizume Y, Saito K
Neuropathology 2009 Feb;29(1):63-7. Epub 2008 Apr 11 doi: 10.1111/j.1440-1789.2008.00910.x. PMID: 18410269
Fukutani Y, Katsukawa K, Ishizaki K, Takeshima T, Kobayashi K, Yamaguchi N, Nakamura I, Watanabe K
Psychiatry Clin Neurosci 1995 Mar;49(1):73-7. doi: 10.1111/j.1440-1819.1995.tb01862.x. PMID: 8608440
Oppenheimer DR, Spalding JM
J Neurol Neurosurg Psychiatry 1973 Dec;36(6):978-88. doi: 10.1136/jnnp.36.6.978. PMID: 4772728Free PMC Article

Clinical prediction guides

Ando T, Kamoshita S, Riku Y, Ito A, Ozawa Y, Miyamura K, Fujino M, Ito M, Goto Y, Mano K, Akagi A, Miyahara H, Katsuno M, Yoshida M, Iwasaki Y
Neuropathology 2022 Aug;42(4):295-301. Epub 2022 May 23 doi: 10.1111/neup.12807. PMID: 35607714
Azzarito M, Seif M, Kyathanahally S, Curt A, Freund P
Neuroimage Clin 2020;26:102221. Epub 2020 Feb 25 doi: 10.1016/j.nicl.2020.102221. PMID: 32145681Free PMC Article
Koike H, Atsuta N, Adachi H, Iijima M, Katsuno M, Yasuda T, Fukada Y, Yasui K, Nakashima K, Horiuchi M, Shiomi K, Fukui K, Takashima S, Morita Y, Kuniyoshi K, Hasegawa Y, Toribe Y, Kajiura M, Takeshita S, Mukai E, Sobue G
Brain 2010 Oct;133(10):2881-96. Epub 2010 Aug 23 doi: 10.1093/brain/awq214. PMID: 20736188
Bergers E, Bot JC, De Groot CJ, Polman CH, Lycklama à Nijeholt GJ, Castelijns JA, van der Valk P, Barkhof F
Neurology 2002 Dec 10;59(11):1766-71. doi: 10.1212/01.wnl.0000036566.00866.26. PMID: 12473766
Wang Y, Hashizume Y, Yoshida M, Inagaki T, Kameyama T
Pathol Int 1999 Feb;49(2):118-24. doi: 10.1046/j.1440-1827.1999.00832.x. PMID: 10355964

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