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Impaired horizontal smooth pursuit

MedGen UID:
355793
Concept ID:
C1866753
Finding
Synonym: Impaired horizontal visual pursuit
 
HPO: HP:0001151

Definition

An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired horizontal smooth pursuit

Conditions with this feature

Azorean disease
MedGen UID:
9841
Concept ID:
C0024408
Disease or Syndrome
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses.
Spinocerebellar ataxia type 1
MedGen UID:
155703
Concept ID:
C0752120
Disease or Syndrome
Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of up-gaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy.
Spinocerebellar ataxia type 2
MedGen UID:
155704
Concept ID:
C0752121
Disease or Syndrome
Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.
Spinocerebellar ataxia type 26
MedGen UID:
373077
Concept ID:
C1836395
Disease or Syndrome
A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly.
Developmental and epileptic encephalopathy, 4
MedGen UID:
436917
Concept ID:
C2677326
Disease or Syndrome
STXBP1 encephalopathy with epilepsy is characterized by early-onset encephalopathy with epilepsy (i.e., moderate-to-severe intellectual disability, refractory seizures, and ongoing epileptiform activity). The median age of onset of seizures is six weeks (range 1 day to 13 years). Seizure types can include infantile spasms; generalized tonic-clonic, clonic, or tonic seizures; and myoclonic, focal, atonic, and absence seizures. Epilepsy syndromes can include Ohtahara syndrome, West syndrome, Lennox-Gaustaut syndrome, and Dravet syndrome (not SCN1A-related), classic Rett syndrome (not MECP2-related), and atypical Rett syndrome (not CDKL5-related). The EEG is characterized by focal epileptic activity, burst suppression, hypsarrhythmia, or generalized spike-and-slow waves. Other findings can include abnormal tone, movement disorders (especially ataxia and dystonia), and behavior disorders (including autism spectrum disorder). Feeding difficulties are common.
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
MedGen UID:
482274
Concept ID:
C3280644
Disease or Syndrome
POLR3-related leukodystrophy, a hypomyelinating leukodystrophy with specific features on brain MRI, is characterized by varying combinations of four major clinical findings: Neurologic dysfunction, typically predominated by motor dysfunction (progressive cerebellar dysfunction, and to a lesser extent extrapyramidal [i.e., dystonia], pyramidal [i.e., spasticity] and cognitive dysfunctions). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Endocrine abnormalities such as short stature (in ~50% of individuals) with or without growth hormone deficiency, and more commonly, hypogonadotropic hypogonadism manifesting as delayed, arrested, or absent puberty. Ocular abnormality in the form of myopia, typically progressing over several years and becoming severe. POLR3-related leukodystrophy and 4H leukodystrophy are the two recognized terms for five previously described overlapping clinical phenotypes (initially described as distinct entities before their molecular basis was known). These include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset is typically in early childhood but later-onset cases have also been reported. An infant with Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) was recently reported to have pathogenic variants in POLR3A on exome sequencing. Confirmation of this as a very severe form of POLR3-related leukodystrophy awaits replication in other individuals with a clinical diagnosis of Wiedemann-Rautenstrauch syndrome.
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
MedGen UID:
482853
Concept ID:
C3281223
Disease or Syndrome
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., 2011).

Professional guidelines

PubMed

Zhou H, Wang X, Ma D, Jiang Y, Li F, Sun Y, Chen J, Sun W, Pinkhardt EH, Landwehrmeyer B, Ludolph A, Zhang L, Zhao G, Wang Z
Brain Behav 2021 Jul;11(7):e02184. Epub 2021 May 30 doi: 10.1002/brb3.2184. PMID: 34056874Free PMC Article
Eagle SR, Kontos AP, Sinnott A, Beckner M, Nindl BC, Flanagan SD, Lovalekar M, Connaboy C
J Sports Sci 2020 Aug;38(15):1799-1805. Epub 2020 May 15 doi: 10.1080/02640414.2020.1756675. PMID: 32412332

Recent clinical studies

Etiology

Roby PR, Metzger KB, McDonald CC, Corwin DJ, Huber CM, Patton DA, Margulies SS, Grady MF, Master CL, Arbogast KB
Phys Sportsmed 2022 Dec;50(6):522-530. Epub 2021 Sep 21 doi: 10.1080/00913847.2021.1980744. PMID: 34521303Free PMC Article
Mucha A, Collins MW, Elbin RJ, Furman JM, Troutman-Enseki C, DeWolf RM, Marchetti G, Kontos AP
Am J Sports Med 2014 Oct;42(10):2479-86. Epub 2014 Aug 8 doi: 10.1177/0363546514543775. PMID: 25106780Free PMC Article
Robert MP, Ingster-Moati I, Albuisson E, Cabrol D, Golse B, Vaivre-Douret L
Dev Med Child Neurol 2014 Jun;56(6):595-600. Epub 2014 Jan 31 doi: 10.1111/dmcn.12384. PMID: 24479437
Salman MS, Ikeda KM
Can J Neurol Sci 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. PMID: 23419574
Yee RD, Baloh RW, Marder SR, Levy DL, Sakala SM, Honrubia V
Invest Ophthalmol Vis Sci 1987 Feb;28(2):366-74. PMID: 8591920

Diagnosis

Lee SH, Kim JM, Kim JS
Neurol Sci 2022 Jun;43(6):3533-3540. Epub 2022 Mar 8 doi: 10.1007/s10072-022-05967-3. PMID: 35258687
Strupp ML, Straumann D, Helmchen C
Klin Monbl Augenheilkd 2021 Nov;238(11):1197-1211. Epub 2021 Nov 16 doi: 10.1055/a-1654-0632. PMID: 34784643
Mucha A, Collins MW, Elbin RJ, Furman JM, Troutman-Enseki C, DeWolf RM, Marchetti G, Kontos AP
Am J Sports Med 2014 Oct;42(10):2479-86. Epub 2014 Aug 8 doi: 10.1177/0363546514543775. PMID: 25106780Free PMC Article
Robert MP, Ingster-Moati I, Albuisson E, Cabrol D, Golse B, Vaivre-Douret L
Dev Med Child Neurol 2014 Jun;56(6):595-600. Epub 2014 Jan 31 doi: 10.1111/dmcn.12384. PMID: 24479437
Strupp M, Hüfner K, Sandmann R, Zwergal A, Dieterich M, Jahn K, Brandt T
Dtsch Arztebl Int 2011 Mar;108(12):197-204. Epub 2011 Mar 25 doi: 10.3238/arztebl.2011.0197. PMID: 21505601Free PMC Article

Therapy

Wilkinson F, Karanovic O, Ross EC, Lillakas L, Steinbach MJ
Cephalalgia 2006 Jun;26(6):660-71. doi: 10.1111/j.1468-2982.2006.01091.x. PMID: 16686904
Fraschini F, Cesarani A, Alpini D, Esposti D, Stankov BM
Biol Signals Recept 1999 Jan-Apr;8(1-2):111-9. doi: 10.1159/000014578. PMID: 10085472
Moser A, Heide W, Kömpf D
J Neurol 1998 Aug;245(8):542-50. doi: 10.1007/s004150050240. PMID: 9747919
Barton JJ, Sharpe JA, Raymond JE
Brain 1996 Oct;119 ( Pt 5):1535-50. doi: 10.1093/brain/119.5.1535. PMID: 8931578
Waterston JA, Barnes GR, Grealy MA, Collins S
Ann Neurol 1996 Jun;39(6):749-60. doi: 10.1002/ana.410390611. PMID: 8651647

Prognosis

Stubbs JL, Corrow SL, Kiang B, Panenka WJ, Barton JJS
Exp Brain Res 2018 Feb;236(2):485-495. Epub 2017 Dec 8 doi: 10.1007/s00221-017-5146-6. PMID: 29222695
Strupp M, Kremmyda O, Adamczyk C, Böttcher N, Muth C, Yip CW, Bremova T
J Neurol 2014 Sep;261 Suppl 2(Suppl 2):S542-58. doi: 10.1007/s00415-014-7385-9. PMID: 25145891Free PMC Article
Mucha A, Collins MW, Elbin RJ, Furman JM, Troutman-Enseki C, DeWolf RM, Marchetti G, Kontos AP
Am J Sports Med 2014 Oct;42(10):2479-86. Epub 2014 Aug 8 doi: 10.1177/0363546514543775. PMID: 25106780Free PMC Article
Robert MP, Ingster-Moati I, Albuisson E, Cabrol D, Golse B, Vaivre-Douret L
Dev Med Child Neurol 2014 Jun;56(6):595-600. Epub 2014 Jan 31 doi: 10.1111/dmcn.12384. PMID: 24479437
Ladda J, Valkovic P, Eggert T, Straube A
J Neurol 2008 Jul;255(7):1071-8. Epub 2008 Apr 29 doi: 10.1007/s00415-008-0852-4. PMID: 18438696

Clinical prediction guides

Zhou H, Sun Y, Wei L, Wang X, Jiang Y, Li F, Chen J, Sun W, Zhang L, Zhao G, Wang Z
Clin Neurophysiol 2022 Sep;141:15-23. Epub 2022 Jun 21 doi: 10.1016/j.clinph.2022.05.019. PMID: 35809545
Lee SH, Kim JM, Kim JS
Neurol Sci 2022 Jun;43(6):3533-3540. Epub 2022 Mar 8 doi: 10.1007/s10072-022-05967-3. PMID: 35258687
Mcilreavy L, Freeman TCA, Erichsen JT
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):15. doi: 10.1167/iovs.61.6.15. PMID: 32526031Free PMC Article
Stubbs JL, Corrow SL, Kiang B, Panenka WJ, Barton JJS
Exp Brain Res 2018 Feb;236(2):485-495. Epub 2017 Dec 8 doi: 10.1007/s00221-017-5146-6. PMID: 29222695
Mucha A, Collins MW, Elbin RJ, Furman JM, Troutman-Enseki C, DeWolf RM, Marchetti G, Kontos AP
Am J Sports Med 2014 Oct;42(10):2479-86. Epub 2014 Aug 8 doi: 10.1177/0363546514543775. PMID: 25106780Free PMC Article

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