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Cerebellar gliosis

MedGen UID:
868374
Concept ID:
C4022768
Anatomical Abnormality
HPO: HP:0012698

Definition

Focal proliferation of glial cells in the cerebellum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebellar gliosis

Conditions with this feature

Neuropathy, hereditary motor and sensory, type 6B
MedGen UID:
895482
Concept ID:
C4225302
Disease or Syndrome
Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals may also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements such as ataxia, dysmetria, and myoclonus (summary by Abrams et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (601152).

Professional guidelines

PubMed

Tsuda M, Asano S, Kato Y, Murai K, Miyazaki M
J Neurol Sci 2019 Jun 15;401:19-26. Epub 2019 Apr 11 doi: 10.1016/j.jns.2019.04.014. PMID: 31005759
Kim H, Joo E, Suh S, Kim JH, Kim ST, Hong SB
Hum Brain Mapp 2016 Jan;37(1):395-409. Epub 2015 Oct 27 doi: 10.1002/hbm.23038. PMID: 26503297Free PMC Article
Savoiardo M
Neurol Sci 2003 May;24 Suppl 1:S35-7. doi: 10.1007/s100720300036. PMID: 12774211

Recent clinical studies

Etiology

Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C
Int J Mol Sci 2022 Oct 6;23(19) doi: 10.3390/ijms231911847. PMID: 36233161Free PMC Article
Coci EG, Codutti L, Fink C, Bartsch S, Grüning G, Lücke T, Kurth I, Riedel J
Mol Cell Probes 2017 Apr;32:18-23. Epub 2016 Nov 14 doi: 10.1016/j.mcp.2016.11.002. PMID: 27856333
Shill HA, Adler CH, Sabbagh MN, Connor DJ, Caviness JN, Hentz JG, Beach TG
Neurology 2008 Apr 15;70(16 Pt 2):1452-5. doi: 10.1212/01.wnl.0000310425.76205.02. PMID: 18413570

Diagnosis

Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C
Int J Mol Sci 2022 Oct 6;23(19) doi: 10.3390/ijms231911847. PMID: 36233161Free PMC Article
Shill HA, Adler CH, Sabbagh MN, Connor DJ, Caviness JN, Hentz JG, Beach TG
Neurology 2008 Apr 15;70(16 Pt 2):1452-5. doi: 10.1212/01.wnl.0000310425.76205.02. PMID: 18413570

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