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Absent smooth pursuit

MedGen UID:
870481
Concept ID:
C4024928
Finding
HPO: HP:0007179

Definition

A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent smooth pursuit

Conditions with this feature

Spinocerebellar ataxia type 27
MedGen UID:
373075
Concept ID:
C1836383
Disease or Syndrome
Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare.
Hypomyelinating leukodystrophy 9
MedGen UID:
863760
Concept ID:
C4015323
Disease or Syndrome
Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
MedGen UID:
934638
Concept ID:
C4310671
Disease or Syndrome
PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Recent clinical studies

Etiology

Murray C, Newsham D, Rowe F, Noonan C, Marsh IB
J Neuroophthalmol 2022 Mar 1;42(1):e267-e273. Epub 2021 Oct 22 doi: 10.1097/WNO.0000000000001438. PMID: 34860741
Beedie SA, Benson PJ, Giegling I, Rujescu D, St Clair DM
World J Biol Psychiatry 2012 Mar;13(3):200-10. Epub 2011 May 5 doi: 10.3109/15622975.2011.566628. PMID: 21545243
Talkowski ME, Redfern MS, Jennings JR, Furman JM
J Cogn Neurosci 2005 Sep;17(9):1432-41. doi: 10.1162/0898929054985419. PMID: 16197696
Abel LA, Friedman L, Jesberger J, Malki A, Meltzer HY
Biol Psychiatry 1991 Jun 1;29(11):1063-72. doi: 10.1016/0006-3223(91)90248-k. PMID: 1873370
Holzman PS
Schizophr Bull 1987;13(1):49-75. doi: 10.1093/schbul/13.1.49. PMID: 3602939

Diagnosis

Murray C, Newsham D, Rowe F, Noonan C, Marsh IB
J Neuroophthalmol 2022 Mar 1;42(1):e267-e273. Epub 2021 Oct 22 doi: 10.1097/WNO.0000000000001438. PMID: 34860741
Petersen JA, Wichmann WW, Weber KP
Neurology 2013 Oct 29;81(18):1642-3. doi: 10.1212/WNL.0b013e3182a9f435. PMID: 24166963
Ross DE, Buchanan RW, Lahti AC, Medoff D, Bartko JJ, Compton AD, Thaker GK
Schizophr Res 1998 May 25;31(2-3):141-50. doi: 10.1016/s0920-9964(98)00027-9. PMID: 9689718
Abel LA, Friedman L, Jesberger J, Malki A, Meltzer HY
Biol Psychiatry 1991 Jun 1;29(11):1063-72. doi: 10.1016/0006-3223(91)90248-k. PMID: 1873370
Holzman PS
Schizophr Bull 1987;13(1):49-75. doi: 10.1093/schbul/13.1.49. PMID: 3602939

Therapy

Kim EJ, Oh SY, Choi HC, Shin BS, Seo MW, Choi JB
J Neuroophthalmol 2010 Sep;30(3):268-71. doi: 10.1097/WNO.0b013e3181e08b20. PMID: 20724946
Das VE, Dell'Osso LF, Leigh RJ
J Neurophysiol 1999 Jun;81(6):2884-92. doi: 10.1152/jn.1999.81.6.2884. PMID: 10368405
Ross DE, Buchanan RW, Lahti AC, Medoff D, Bartko JJ, Compton AD, Thaker GK
Schizophr Res 1998 May 25;31(2-3):141-50. doi: 10.1016/s0920-9964(98)00027-9. PMID: 9689718
Moschner C, Zangemeister WH, Demer JL
Vision Res 1996 May;36(9):1341-8. doi: 10.1016/0042-6989(95)00218-9. PMID: 8711912
Peck AW
Epilepsia 1991;32 Suppl 2:S9-12. doi: 10.1111/j.1528-1157.1991.tb05883.x. PMID: 1773780

Prognosis

Beedie SA, Benson PJ, Giegling I, Rujescu D, St Clair DM
World J Biol Psychiatry 2012 Mar;13(3):200-10. Epub 2011 May 5 doi: 10.3109/15622975.2011.566628. PMID: 21545243
Badler J, Lefèvre P, Missal M
J Neurosci 2010 Aug 4;30(31):10517-25. doi: 10.1523/JNEUROSCI.1733-10.2010. PMID: 20685994Free PMC Article
Mergner T, Schweigart G, Müller M, Hlavacka F, Becker W
Arch Ital Biol 2000 Apr;138(2):139-66. PMID: 10782255
Das VE, Dell'Osso LF, Leigh RJ
J Neurophysiol 1999 Jun;81(6):2884-92. doi: 10.1152/jn.1999.81.6.2884. PMID: 10368405
Peck AW
Epilepsia 1991;32 Suppl 2:S9-12. doi: 10.1111/j.1528-1157.1991.tb05883.x. PMID: 1773780

Clinical prediction guides

Beedie SA, Benson PJ, Giegling I, Rujescu D, St Clair DM
World J Biol Psychiatry 2012 Mar;13(3):200-10. Epub 2011 May 5 doi: 10.3109/15622975.2011.566628. PMID: 21545243
Badler J, Lefèvre P, Missal M
J Neurosci 2010 Aug 4;30(31):10517-25. doi: 10.1523/JNEUROSCI.1733-10.2010. PMID: 20685994Free PMC Article
Sheykholeslami K, Kaga K, Murofushi T, Hughes DW
Acta Otolaryngol 2000 Oct;120(7):849-54. doi: 10.1080/000164800750061714. PMID: 11132719
Sztriha L, Al-Gazali LI, Aithala GR, Nork M
Pediatr Neurol 1999 Apr;20(4):274-81. doi: 10.1016/s0887-8994(98)00154-4. PMID: 10328276
Peck AW
Epilepsia 1991;32 Suppl 2:S9-12. doi: 10.1111/j.1528-1157.1991.tb05883.x. PMID: 1773780

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