Abstract
Startle is a stereotypical response to a sudden and unexpected stimulant. Although it is often triggered by an acoustic stimuli, tactile, visual or vestibular stimuli may also cause this response. Here, we described totally nine patients with detailed clinical informations as followed; one hereditary, four symptomatic (cases of two ataxias, one dystonia and one stroke) two psychogenic and one case of startle epilepsy. Symptoms were began in puberty in hereditary case, these were began with primary neurodegenerative process in symptomatic cases. Only herediatry case had positive family history for the increased startle.The symptoms are suppressed by the use of clonazepam in seven cases. Increased startle reaction is rarely questioned in daily practice. Diagnosis of this rare disorder can reach us the solutions to improve quality of life of patients.
Key words: startle response, startle, epilepsy, pathological startle.
References
- Meinck HM. Startle and its disorders. Neurophysiol Clin: 2006; 36 (5-6):357-364.
- Andermann F, Keene DL, Andermann E, Quesney LF. Startle disease or hyperekplexia: further delineation of the syndrome. Brain:1980;103(4):985-997.
- Dreissen YE, Tijssen MA. The startle syndromes: physiology and treatment. Epilepsia: 2012;7:3-11.
- Gómez-Nieto R, Horta-Júnior Jde A, Castellano O, Millian-Morell L, Rubio ME, López DE.Origin and function of short-latency inputs to the neural substrates underlying the acoustic startle reflex. Front Neurosci: 2014:25;8:216.
- Götz T, Janik VM.Repeated elicitation of the acoustic startle reflex leads to sensitisation in subsequent avoidance behaviour and induces fear conditioning. BMC Neurosci: 2011:13;12:30.
- Grillon C, Baas J.A review of the modulation of the startle reflex by affective states and its application in psychiatry. Clin Neurophysiol: 2003;114(9):1557-1579.
- Rønne MS, Nielsen PB, Mogensen CB.Stiff baby syndrome is a rare cause of neonatal hypertonicity. Ugeskr Laeger: 2014:24;176.
- Bode A, Lynch JW.The impact of human hyperekplexia mutations on glycine receptor structure and function. Mol Brain: 2014: 9;7:2.
- Becker K, Becker C, Breitinger H. The inhibitory glycine receptor as a model of hereditary channelopaties. In: Channelopathies (eds. Lehmann-Horn F) Amsterdam, Elsevier BV,2000 p.195.
- McAbee GN.Clobazam-Clonazepam Combination Effective for Stimulus-Induced Falling in Hyperekplexia.J Child Neurol: 2014 Jan 21[Epub ahead of print].
- Baysal L, Bebek N, Baykan B. Fotosensitivite ve Reflex epilepsiler. Epilepsi: 2014;20: 23-31.
- Job AS, De Palma L, Principe A, et al.The pivotal role of the supplementary motor area in startle epilepsy as demonstrated by SEEG epileptogenicity maps. Epilepsia: 2014;55(8):85-88.
- Ertan S, Uluduz D, Ozekmekçi S, et al. Clinical characteristics of 49 patients with psychogenic movement disorders in a tertiary clinic in Turkey. Mov Disord: 2009;24(5):759-62.
Abstract
İrkilme (startle) ani, beklenmeyen bir uyarıya verilen stereotipik bir yanıttır. Sıklıkla işitsel uyaranlar ile tetiklense de, dokunsal, görsel veya vestibüler uyaranlarla da başlayabilir. Burada; biriherediter,dördü semptomatik (iki ataksi, bir distoni ve bir inme olgusu), ikisi psikojen, biri de startle epilepsisi tanısı alan toplam dokuz ayrı olgunun klinik bilgileri detaylı olarak sunulmuştur. Herediter olguda semptomlar ergenlikle birlikte, semptomatik olgularda ise birincil nörodejeneratif süreçle birlikte başlamıştır. Sadece herediter olguda artmış irkilme açısından pozitif aile öyküsü mevcuttu. Olguların yedisinde klonazepam kullanımı ile semptomlar baskılanmıştır. Artmış irkilme reaksiyonu,günlük pratikte her zaman sorgulanmayan,tanı konulduğunda ise hastaların yaşam kalitelerini arttırıcı çözümlere kolayca ulaşabileceğimiz nadir bir tablodur.
Keywords
References
- Meinck HM. Startle and its disorders. Neurophysiol Clin: 2006; 36 (5-6):357-364.
- Andermann F, Keene DL, Andermann E, Quesney LF. Startle disease or hyperekplexia: further delineation of the syndrome. Brain:1980;103(4):985-997.
- Dreissen YE, Tijssen MA. The startle syndromes: physiology and treatment. Epilepsia: 2012;7:3-11.
- Gómez-Nieto R, Horta-Júnior Jde A, Castellano O, Millian-Morell L, Rubio ME, López DE.Origin and function of short-latency inputs to the neural substrates underlying the acoustic startle reflex. Front Neurosci: 2014:25;8:216.
- Götz T, Janik VM.Repeated elicitation of the acoustic startle reflex leads to sensitisation in subsequent avoidance behaviour and induces fear conditioning. BMC Neurosci: 2011:13;12:30.
- Grillon C, Baas J.A review of the modulation of the startle reflex by affective states and its application in psychiatry. Clin Neurophysiol: 2003;114(9):1557-1579.
- Rønne MS, Nielsen PB, Mogensen CB.Stiff baby syndrome is a rare cause of neonatal hypertonicity. Ugeskr Laeger: 2014:24;176.
- Bode A, Lynch JW.The impact of human hyperekplexia mutations on glycine receptor structure and function. Mol Brain: 2014: 9;7:2.
- Becker K, Becker C, Breitinger H. The inhibitory glycine receptor as a model of hereditary channelopaties. In: Channelopathies (eds. Lehmann-Horn F) Amsterdam, Elsevier BV,2000 p.195.
- McAbee GN.Clobazam-Clonazepam Combination Effective for Stimulus-Induced Falling in Hyperekplexia.J Child Neurol: 2014 Jan 21[Epub ahead of print].
- Baysal L, Bebek N, Baykan B. Fotosensitivite ve Reflex epilepsiler. Epilepsi: 2014;20: 23-31.
- Job AS, De Palma L, Principe A, et al.The pivotal role of the supplementary motor area in startle epilepsy as demonstrated by SEEG epileptogenicity maps. Epilepsia: 2014;55(8):85-88.
- Ertan S, Uluduz D, Ozekmekçi S, et al. Clinical characteristics of 49 patients with psychogenic movement disorders in a tertiary clinic in Turkey. Mov Disord: 2009;24(5):759-62.
Details
| Primary Language | English |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | August 26, 2015 |
| Published in Issue | Year 2015 Volume: 5 Issue: 1-Ek |