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Sporadic hyperekplexia

MedGen UID:
1683565
•Concept ID:
C5191042
•
Disease or Syndrome
Synonym: sporadic hyperekplexia
SNOMED CT: Sporadic hyperekplexia (783705006)
 
Monarch Initiative: MONDO:0017659
Orphanet: ORPHA306776

Definition

A rare neurologic disease with characteristics of excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSporadic hyperekplexia

Recent clinical studies

Diagnosis

Sporadic hyperekplexia presenting with an ataxic gait.
Rouco I, Bilbao I, Losada J, Maestro I, Zarranz JJ
J Clin Neurosci 2014 Feb;21(2):345-6. Epub 2013 Sep 17 doi: 10.1016/j.jocn.2013.03.025. PMID: 24054400
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ
Nat Genet 2006 Jul;38(7):801-6. Epub 2006 Jun 4 doi: 10.1038/ng1814. PMID: 16751771Free PMC Article
Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review.
Gaitatzis A, Kartsounis LD, Gacinovic S, Costa DC, Harvey K, Harvey RJ, de Silva RN
J Neurol 2004 Jan;251(1):91-8. doi: 10.1007/s00415-004-0288-4. PMID: 14999495
Hyperekplexia in a patient with a brainstem vascular anomaly.
Gambardella A, Valentino P, Annesi G, Oliveri RL, Bono F, Mazzei RL, Conforti FL, Aguglia U, Zappia M, Pardatscher K, Quattrone A
Acta Neurol Scand 1999 Apr;99(4):255-9. doi: 10.1111/j.1600-0404.1999.tb07358.x. PMID: 10225359
Neonatal sporadic hyperekplexia: a rare and often unrecognized entity.
Scarcella A, Coppola G
Brain Dev 1997 Apr;19(3):226-8. doi: 10.1016/s0387-7604(97)00571-8. PMID: 9134197

Therapy

Sporadic hyperekplexia presenting with an ataxic gait.
Rouco I, Bilbao I, Losada J, Maestro I, Zarranz JJ
J Clin Neurosci 2014 Feb;21(2):345-6. Epub 2013 Sep 17 doi: 10.1016/j.jocn.2013.03.025. PMID: 24054400
Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review.
Gaitatzis A, Kartsounis LD, Gacinovic S, Costa DC, Harvey K, Harvey RJ, de Silva RN
J Neurol 2004 Jan;251(1):91-8. doi: 10.1007/s00415-004-0288-4. PMID: 14999495
Hyperekplexia in a girl with posterior fossa malformations.
Goraya JS, Shah D, Poddar B
J Child Neurol 2002 Feb;17(2):147-9. doi: 10.1177/088307380201700213. PMID: 11952078
Beneficial effect of fluoxetine in a case of sporadic hyperekplexia.
Sechi G, Sotgiu S, Valenti MP, Pitzolu MG, Peterlongo P, Larizza L, Rosati G
Clin Neuropharmacol 2000 May-Jun;23(3):161-3. doi: 10.1097/00002826-200005000-00006. PMID: 10895400

Prognosis

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ
Nat Genet 2006 Jul;38(7):801-6. Epub 2006 Jun 4 doi: 10.1038/ng1814. PMID: 16751771Free PMC Article

Clinical prediction guides

Pontine hyperperfusion in sporadic hyperekplexia.
Vetrugno R, Mascalchi M, Vella A, Della Nave R, Guerrini L, Vattimo A, del Giudice EM, Plazzi G, D'Angelo R, Greco G, Montagna P
J Neurol Neurosurg Psychiatry 2007 Sep;78(9):1001-4. doi: 10.1136/jnnp.2006.113837. PMID: 17702784Free PMC Article
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ
Nat Genet 2006 Jul;38(7):801-6. Epub 2006 Jun 4 doi: 10.1038/ng1814. PMID: 16751771Free PMC Article

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