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Central nervous system degeneration

MedGen UID:
479317
Concept ID:
C3277687
Disease or Syndrome; Finding
Synonym: CNS degeneration
 
HPO: HP:0007009

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCentral nervous system degeneration

Conditions with this feature

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
MedGen UID:
348124
Concept ID:
C1860518
Disease or Syndrome
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a small-vessel disease that affects highly vascularized tissues including the retina, brain, liver, and kidneys. Age of onset is often between 35 and 50 years. The most common presenting finding is decreased visual acuity and/or visual field defects. Neurologic manifestations may include hemiparesis, facial weakness, aphasia, and hemianopsia. Migraines and seizures are less frequently described. Renal manifestations may include mild-to-moderate increase in serum creatinine and mild proteinuria; progression to end-stage renal disease (ESRD) is uncommon. Hepatic manifestations frequently include mildly elevated levels of alkaline phosphatase and gamma-glutamyltransferase (GGT). Less common findings include psychiatric disorders, hypertension, mild-to-moderate anemia, and Raynaud phenomenon.

Professional guidelines

PubMed

Arfi A, Richard M, Gandolphe C, Scherman D
J Inherit Metab Dis 2010 Feb;33(1):61-7. doi: 10.1007/s10545-009-9029-2. PMID: 20084460

Recent clinical studies

Etiology

Lee J, Hyeon JW, Kim SY, Hwang KJ, Ju YR, Ryou C
J Med Virol 2015 Jan;87(1):175-86. Epub 2014 Jun 30 doi: 10.1002/jmv.24004. PMID: 24978677
Albrecht P, Müller AK, Südmeyer M, Ferrea S, Ringelstein M, Cohn E, Aktas O, Dietlein T, Lappas A, Foerster A, Hartung HP, Schnitzler A, Methner A
PLoS One 2012;7(4):e34891. Epub 2012 Apr 13 doi: 10.1371/journal.pone.0034891. PMID: 22514688Free PMC Article
Uzun N, Uluduz D, Mikla S, Aydin A
Electromyogr Clin Neurophysiol 2006 May-Jun;46(3):131-7. PMID: 16918196
Yogalingam G, Hopwood JJ
Hum Mutat 2001 Oct;18(4):264-81. doi: 10.1002/humu.1189. PMID: 11668611
Vuopala K, Leisti J, Herva R
Neuropediatrics 1994 Dec;25(6):308-15. doi: 10.1055/s-2008-1073045. PMID: 7770128

Diagnosis

Dias-Santos A, Proença RP, Tavares Ferreira J, Pinheiro S, Cunha JP, Proença R, Moraes-Fontes MF
Autoimmun Rev 2018 Jun;17(6):617-624. Epub 2018 Apr 7 doi: 10.1016/j.autrev.2018.01.011. PMID: 29635076
Lee J, Hyeon JW, Kim SY, Hwang KJ, Ju YR, Ryou C
J Med Virol 2015 Jan;87(1):175-86. Epub 2014 Jun 30 doi: 10.1002/jmv.24004. PMID: 24978677
Albrecht P, Müller AK, Südmeyer M, Ferrea S, Ringelstein M, Cohn E, Aktas O, Dietlein T, Lappas A, Foerster A, Hartung HP, Schnitzler A, Methner A
PLoS One 2012;7(4):e34891. Epub 2012 Apr 13 doi: 10.1371/journal.pone.0034891. PMID: 22514688Free PMC Article
Yogalingam G, Hopwood JJ
Hum Mutat 2001 Oct;18(4):264-81. doi: 10.1002/humu.1189. PMID: 11668611
Hughes RC, Cartlidge NE, Millac P
J Neurol Neurosurg Psychiatry 1970 Jun;33(3):363-71. doi: 10.1136/jnnp.33.3.363. PMID: 5431725Free PMC Article

Therapy

Hammond BR, Renzi-Hammond L
Nutr Neurosci 2023 Aug;26(8):720-726. Epub 2022 Jun 11 doi: 10.1080/1028415X.2022.2084125. PMID: 35694839
Reis AFVF, Gonçalves ILP, Neto AFG, Santos AS, Kuca K, Nepovimova E, Neto AMJC
J Biomol Struct Dyn 2018 Sep;36(12):3047-3057. Epub 2017 Oct 23 doi: 10.1080/07391102.2017.1386592. PMID: 28978251
Uzun N, Uluduz D, Mikla S, Aydin A
Electromyogr Clin Neurophysiol 2006 May-Jun;46(3):131-7. PMID: 16918196
Shuper A, Stein J, Goshen J, Kornreich L, Yaniv I, Cohen IJ
J Child Neurol 2000 Jul;15(7):481-3. doi: 10.1177/088307380001500711. PMID: 10921521
Bourgeois M, Bouilh P, Tignol J, Yesavage J
J Nerv Ment Dis 1980 Mar;168(3):177-8. doi: 10.1097/00005053-198003000-00009. PMID: 6101611

Prognosis

Nishikawa Y, Watanabe K, Holobar A, Takahashi T, Maeda N, Maruyama H, Tanaka S, Hyngstrom AS
Sensors (Basel) 2021 Oct 4;21(19) doi: 10.3390/s21196615. PMID: 34640935Free PMC Article
Lee J, Hyeon JW, Kim SY, Hwang KJ, Ju YR, Ryou C
J Med Virol 2015 Jan;87(1):175-86. Epub 2014 Jun 30 doi: 10.1002/jmv.24004. PMID: 24978677
Uzun N, Uluduz D, Mikla S, Aydin A
Electromyogr Clin Neurophysiol 2006 May-Jun;46(3):131-7. PMID: 16918196
Khosravi M, Weaver DD, Bull MJ, Lachman R, Rimoin DL
Am J Med Genet 1998 Apr 28;77(1):63-71. PMID: 9557897
Hughes RC, Cartlidge NE, Millac P
J Neurol Neurosurg Psychiatry 1970 Jun;33(3):363-71. doi: 10.1136/jnnp.33.3.363. PMID: 5431725Free PMC Article

Clinical prediction guides

Shekari A, Fahnestock M
Handb Clin Neurol 2021;182:191-209. doi: 10.1016/B978-0-12-819973-2.00013-7. PMID: 34266592
Reis AFVF, Gonçalves ILP, Neto AFG, Santos AS, Kuca K, Nepovimova E, Neto AMJC
J Biomol Struct Dyn 2018 Sep;36(12):3047-3057. Epub 2017 Oct 23 doi: 10.1080/07391102.2017.1386592. PMID: 28978251
Oktem EO, Derle E, Kibaroglu S, Oktem C, Akkoyun I, Can U
Neurol Sci 2015 Jul;36(7):1141-6. Epub 2015 Jan 10 doi: 10.1007/s10072-014-2055-3. PMID: 25575807
Clairembault T, Kamphuis W, Leclair-Visonneau L, Rolli-Derkinderen M, Coron E, Neunlist M, Hol EM, Derkinderen P
J Neurochem 2014 Sep;130(6):805-15. Epub 2014 Jun 6 doi: 10.1111/jnc.12742. PMID: 24749759
Uzun N, Uluduz D, Mikla S, Aydin A
Electromyogr Clin Neurophysiol 2006 May-Jun;46(3):131-7. PMID: 16918196

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