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Slowed horizontal saccades

MedGen UID:
341564
Concept ID:
C1856477
Finding
HPO: HP:0007885

Definition

An abnormally slow velocity of horizontal saccadic eye movements. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSlowed horizontal saccades

Conditions with this feature

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
MedGen UID:
341563
Concept ID:
C1856476
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.

Professional guidelines

PubMed

Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon EJ, Ginns EI
Clin Genet 1992 Jan;41(1):1-5. doi: 10.1111/j.1399-0004.1992.tb03618.x. PMID: 1633639

Recent clinical studies

Etiology

Grossman SN, Calix R, Hudson T, Rizzo JR, Selesnick I, Frucht S, Galetta SL, Balcer LJ, Rucker JC
J Neurol Sci 2022 Nov 15;442:120436. Epub 2022 Sep 23 doi: 10.1016/j.jns.2022.120436. PMID: 36183516
Rosini F, Pretegiani E, Battisti C, Dotti MT, Federico A, Rufa A
Neurol Sci 2020 Jul;41(7):1719-1734. Epub 2020 Mar 4 doi: 10.1007/s10072-020-04318-4. PMID: 32130555
Yacovino DA, Martin LA, Perez Akly M, Hain TC
PLoS One 2018;13(5):e0197079. Epub 2018 May 30 doi: 10.1371/journal.pone.0197079. PMID: 29847602Free PMC Article
Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A
Mol Genet Metab 2018 Feb;123(2):159-168. Epub 2017 Nov 16 doi: 10.1016/j.ymgme.2017.11.004. PMID: 29191430
Lemos J, Pereira D, Almendra L, Rebelo D, Patrício M, Castelhano J, Cunha G, Januário C, Cunha L, Freire A, Castelo-Branco M
J Neurol Sci 2017 Feb 15;373:157-166. Epub 2016 Dec 27 doi: 10.1016/j.jns.2016.12.049. PMID: 28131178

Diagnosis

Kim JM, Nam TS, Choi SM, Kim BC, Lee SH
Sci Rep 2023 Sep 7;13(1):14783. doi: 10.1038/s41598-023-41924-6. PMID: 37679515Free PMC Article
Grossman SN, Calix R, Hudson T, Rizzo JR, Selesnick I, Frucht S, Galetta SL, Balcer LJ, Rucker JC
J Neurol Sci 2022 Nov 15;442:120436. Epub 2022 Sep 23 doi: 10.1016/j.jns.2022.120436. PMID: 36183516
Rosini F, Pretegiani E, Battisti C, Dotti MT, Federico A, Rufa A
Neurol Sci 2020 Jul;41(7):1719-1734. Epub 2020 Mar 4 doi: 10.1007/s10072-020-04318-4. PMID: 32130555
Yacovino DA, Martin LA, Perez Akly M, Hain TC
PLoS One 2018;13(5):e0197079. Epub 2018 May 30 doi: 10.1371/journal.pone.0197079. PMID: 29847602Free PMC Article
Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A
Mol Genet Metab 2018 Feb;123(2):159-168. Epub 2017 Nov 16 doi: 10.1016/j.ymgme.2017.11.004. PMID: 29191430

Therapy

Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, Vázquez-Mojena Y, González-Zaldivar Y
Mov Disord 2016 Apr;31(4):570-8. Epub 2016 Feb 5 doi: 10.1002/mds.26532. PMID: 26846400
Lyseng-Williamson KA
Drugs 2014 Jan;74(1):61-74. doi: 10.1007/s40265-013-0164-6. PMID: 24338084
Frohman TC, Davis SL, Frohman EM
Ann N Y Acad Sci 2011 Sep;1233:313-9. doi: 10.1111/j.1749-6632.2011.06125.x. PMID: 21951010
Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Wraith JE
J Child Neurol 2010 Mar;25(3):300-5. Epub 2009 Oct 12 doi: 10.1177/0883073809344222. PMID: 19822772
Solomon D, Ramat S, Tomsak RL, Reich SG, Shin RK, Zee DS, Leigh RJ
Ann Neurol 2008 Mar;63(3):355-65. doi: 10.1002/ana.21201. PMID: 17696176

Prognosis

Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A
Mol Genet Metab 2018 Feb;123(2):159-168. Epub 2017 Nov 16 doi: 10.1016/j.ymgme.2017.11.004. PMID: 29191430
Fernández-Fournier M, Perry DC, Tartaglia MC, de May M, Boxer A, Coppola G, Christine CW, Huang EJ, Seeley WW, Miller BL, DeArmond SJ, Grinberg LT, Geschwind MD
JAMA Neurol 2017 May 1;74(5):591-596. doi: 10.1001/jamaneurol.2016.6159. PMID: 28264087Free PMC Article
Solomon D, Ramat S, Tomsak RL, Reich SG, Shin RK, Zee DS, Leigh RJ
Ann Neurol 2008 Mar;63(3):355-65. doi: 10.1002/ana.21201. PMID: 17696176
van Gelder P, Lebedev S, Tsui WH
J Neurophysiol 1995 Sep;74(3):1358-61. doi: 10.1152/jn.1995.74.3.1358. PMID: 7500158
Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon EJ, Ginns EI
Clin Genet 1992 Jan;41(1):1-5. doi: 10.1111/j.1399-0004.1992.tb03618.x. PMID: 1633639

Clinical prediction guides

Lee SU, Kim JS, Yoo D, Kim A, Kim HJ, Choi JY, Park JY, Jeong SH, Kim JM, Park KW
Cerebellum 2023 Feb;22(1):1-13. Epub 2022 Jan 7 doi: 10.1007/s12311-021-01356-2. PMID: 34993890
Yacovino DA, Martin LA, Perez Akly M, Hain TC
PLoS One 2018;13(5):e0197079. Epub 2018 May 30 doi: 10.1371/journal.pone.0197079. PMID: 29847602Free PMC Article
Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A
Mol Genet Metab 2018 Feb;123(2):159-168. Epub 2017 Nov 16 doi: 10.1016/j.ymgme.2017.11.004. PMID: 29191430
Lyseng-Williamson KA
Drugs 2014 Jan;74(1):61-74. doi: 10.1007/s40265-013-0164-6. PMID: 24338084
Anastasopoulos D, Kimmig H, Mergner T, Psilas K
Brain 1996 Dec;119 ( Pt 6):1923-32. doi: 10.1093/brain/119.6.1923. PMID: 9009998

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