The gelastic seizures-hypothalamic hamartoma syndrome: Facts, hypotheses, and perspectives

Striano, Salvatore; Santulli, Lia; Ianniciello, Marta; Ferretti, Marta; Romanelli, Pantaleo; Striano, Pasquale

doi:10.1016/j.yebeh.2012.02.013

Cited by 61 publications

(85 citation statements)

References 70 publications

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“…Hypothalamic hamartoma (HH) is a rare developmental malformation that has provided important insight about epileptology (Berkovic et al, 1988;Mullatti et al, 2003;Striano et al, 2012). HH is characterized by gelastic seizures (GS) which occur in almost all patients.…”

Section: Introductionmentioning

confidence: 99%

Epileptic network of hypothalamic hamartoma: An EEG-fMRI study

et al. 2016

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Group analysis of this preliminary study may suggest that the commonly activated subcortical network is related to generation of GS and that frequent spikes lead to deactivation of the DMN and hippocampi, and eventually to a form of epileptic encephalopathy. Inter-individual variance in neocortex activation explains various seizure types among patients. EEG-fMRI enhances sensitivity in detecting the HH interface compared with SISCOM.

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Section: Introductionmentioning

confidence: 99%

Epileptic network of hypothalamic hamartoma: An EEG-fMRI study

et al. 2016

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“…In humans, hamartomas arising from the lateral tuberal hypothalamus can evoke the onset of gelastic seizures, a form of epilepsy that is characterized by involuntary laughter, which may or may not be accompanied by a pleasant sensation [12,13]. The lateral tuberal nucleus (LTN) of primates shares topographical as well as some neurochemical features in common with the rodent parvafox nucleus [10,14].…”

Section: Introductionmentioning

confidence: 99%

Reduction in 50-kHz call-numbers and suppression of tickling-associated positive affective behaviour after lesioning of the lateral hypothalamic parvafox nucleus in rats

Roccaro-Waldmeyer

Babalian

Müller

et al. 2016

Behavioural Brain Research

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h i g h l i g h t s• Wistar rats were tickled before and after excitotoxic lesioning of the lateral hypothalamic parvafox nucleus.• Ultrasonic vocalisations (USVs) that were emitted during the tickling of rats and their tendency to approach and follow the experimenter's hand were analysed.• Lesioning was considered successful if the number of parvalbuminimmunoreactive (PV-ir) cells in the area of the parvafox nucleus was reduced beyond a threshold level.• Rats with bilaterally successful lesions manifested the most profound surgery-associated reduction in the number of 50-kHz USVs and in the tendency to approach and follow the experimenter's hand.• Positive correlations were found between each of the four investigated parameters. g r a p h i c a l a b s t r a c tThe parvafox nucleus is located ventrolaterally in the lateral hypothalamic area (LHA). Its core and shell are composed of neurons expressing the calcium-binding protein parvalbumin (PV) and the transcription factor Foxb1, respectively. Given the known functions of the LHA and that the parvafox nucleus receives afferents from the lateral orbitofrontal cortex and projects to the periaqueductal gray matter, a functional role of this entity in the expression of positive emotions has been postulated.The purpose of the present study was to ascertain whether the deletion of neurons in the parvafox nucleus influenced the tickling-induced 50-kHz calls, which are thought to reflect positive affective states, in rats. To this end, tickling of the animals (heterospecific play) was combined with intracerebral injections of the excitotoxin kainic acid into the parvafox nucleus.The most pronounced surgery-associated reduction in 50-kHz call-numbers was observed in the group of rats in which, on the basis of PV-immunoreactive-cell counts in the parvafox nucleus, bilateral lesions had been successfully produced. Two other parameters that were implemented to quantify positive affective behaviour, namely, an approach towards and a following of the hand of the tickling * Corresponding author at: Institute of Anatomy, University of Fribourg, Rte A. Gockel 1, CH-1700 Fribourg, Switzerland.E-mail address: marco.celio@unifr.ch (M.R. Celio). 1Published in which should be cited to refer to this work.http://doc.rero.ch experimenter, were likewise most markedly suppressed in the group of rats with bilaterally successful lesions. Furthermore, positive correlations were found between each of the investigated parameters. Our data afford evidence that the parvafox nucleus plays a role in the production of 50-kHz calls in rats, and, more generally, in the expression of positive emotions.

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“…Radiosurgery is well known to be effective for the treatment of gelastic seizures, and indeed may be effective for the treatment of CPP due to a small HH. 18 As illustrated by our case, however, radiosurgery is not always effective for the treatment of CPP due to HH. Further information is needed to determine which patients are most likely to benefit from the radiosurgical treatment of HH.…”

Section: Discussionmentioning

confidence: 70%

Surgical treatment of hypothalamic hamartoma causing central precocious puberty: long-term follow-up

Li¹,

Luo²,

Gong³

et al. 2013

PED

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Hypothalamic hamartoma (HH) is a rare condition that often manifests as central precocious puberty (CPP). There is a lack of information available concerning the long-term effectiveness of surgery for the treatment of CPP due to HH. Here the authors describe 3 cases of CPP due to HH, with a follow-up ranging from 9 to 11 years after surgery. Three girls experienced breast growth and menses at 5–18 months of age and 5–36 months of age, respectively. Serum concentrations of luteinizing hormone, follicle-stimulating hormone, and estradiol concentrations ranged from 2.5 to 6.5 mIU/ml, 4.8–5.9 mIU/ml, and 47.9–133.0 pg/ml, respectively. Magnetic resonance imaging confirmed that CPP was caused by HH. Lesions were resected using a right pterional approach. After surgery, endocrine hormone concentrations were normalized, breasts shrunk, and menses ceased in each patient. Moreover, all of them subsequently developed normally and experienced age-appropriate onset of puberty. Each patient's height and weight were normal at the most recent follow-up (9–11 years after surgery), and none had experienced learning difficulties. Central precocious puberty due to HH can be successfully treated with resection. In the 3 cases presented, this approach was associated with both short- and long-term efficacy.

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The gelastic seizures-hypothalamic hamartoma syndrome: Facts, hypotheses, and perspectives

Cited by 61 publications

References 70 publications

Epileptic network of hypothalamic hamartoma: An EEG-fMRI study

Epileptic network of hypothalamic hamartoma: An EEG-fMRI study

Reduction in 50-kHz call-numbers and suppression of tickling-associated positive affective behaviour after lesioning of the lateral hypothalamic parvafox nucleus in rats

Surgical treatment of hypothalamic hamartoma causing central precocious puberty: long-term follow-up

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