Hypothalamic Hamartoma: A Paradigm/Model for Studying the Onset of Puberty

2005 ◽  
pp. 81-93 ◽  
Author(s):  
Heike Jung, ◽  
Anne-Simone Parent, ◽  
Sergio R. Ojeda
Keyword(s):  
Hypothalamic Hamartoma

Impact of stereotactic interstitial radiosurgery on cognition in ten juvenile epilepsy patients with hypothalamic hamartoma

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
K Wagner ◽  
L Frings ◽  
A Quiske ◽  
S Bonakdar ◽  
F von Deimling ◽  
...  
Keyword(s):  
Hypothalamic Hamartoma ◽  
Interstitial Radiosurgery

scholarly journals Developmental malformations in Huntington disease: neuropathologic evidence of focal neuronal migration defects in a subset of adult brains

2021 ◽  
Vol 141 (3) ◽  
pp. 399-413 ◽  
Author(s):  
R. A. Hickman ◽  
P. L. Faust ◽  
M. K. Rosenblum ◽  
K. Marder ◽  
M. F. Mehler ◽  
...  
Keyword(s):  
New York ◽  
Huntington Disease ◽  
Trinucleotide Repeat ◽  
Validation Cohort ◽  
Hypothalamic Hamartoma ◽  
Discovery Cohort ◽  
Brain Bank ◽  
Neuronal Precursors ◽  
Neurodevelopmental Abnormalities ◽  
Developmental Malformations

AbstractNeuropathologic hallmarks of Huntington Disease (HD) include the progressive neurodegeneration of the striatum and the presence of Huntingtin (HTT) aggregates that result from abnormal polyQ expansion of the HTT gene. Whether the pathogenic trinucleotide repeat expansion of the HTT gene causes neurodevelopmental abnormalities has garnered attention in both murine and human studies; however, documentation of discrete malformations in autopsy brains of HD individuals has yet to be described. We retrospectively searched the New York Brain Bank (discovery cohort) and an independent cohort (validation cohort) to determine whether developmental malformations are more frequently detected in HD versus non-HD brains and to document their neuropathologic features. One-hundred and thirty HD and 1600 non-HD whole brains were included in the discovery cohort and 720 HD and 1989 non-HD half brains were assessed in the validation cohort. Cases with developmental malformations were found at 6.4–8.2 times greater frequency in HD than in non-HD brains (discovery cohort: OR 8.68, 95% CI 3.48–21.63, P=4.8 × 10-5; validation cohort: OR 6.50, 95% CI 1.83–23.17, P=0.0050). Periventricular nodular heterotopias (PNH) were the most frequent malformations and contained HTT and p62 aggregates analogous to the cortex, whereas cortical malformations with immature neuronal populations did not harbor such inclusions. HD individuals with malformations had heterozygous HTT CAG expansions between 40 and 52 repeats, were more frequently women, and all were asymmetric and focal, aside from one midline hypothalamic hamartoma. Using two independent brain bank cohorts, this large neuropathologic series demonstrates an increased occurrence of developmental malformations in HD brains. Since pathogenic HTT gene expansion is associated with genomic instability, one possible explanation is that neuronal precursors are more susceptible to somatic mutation of genes involved in cortical migration. Our findings further support emerging evidence that pathogenic trinucleotide repeat expansions of the HTT gene may impact neurodevelopment.

Stereotaxy for Hypothalamic Hamartoma with Intractable Gelastic Seizures: Technical Case Report

Neurosurgery ◽  
1999 ◽  
Vol 44 (6) ◽  
pp. 1347-1350 ◽  
Author(s):  
Masafumi Fukuda ◽  
Shigeki Kameyama ◽  
Manabu Wachi ◽  
Ryuichi Tanaka
Keyword(s):  
Case Report ◽  
Hypothalamic Hamartoma ◽  
Gelastic Seizures

Lack of Adrenarche in Two Children with Precocious Puberty Secondary to Hypothalamic Hamartoma

1989 ◽  
Vol 31 (5-6) ◽  
pp. 226-229 ◽  
Author(s):  
Raphaël Rappaport ◽  
Raja Brauner
Keyword(s):  
Precocious Puberty ◽  
Hypothalamic Hamartoma

scholarly journals Teaching Video NeuroImages: Hypothalamic hamartoma: An overlooked entity

Neurology ◽  
2011 ◽  
Vol 76 (6) ◽  
pp. e26-e26
Author(s):  
N. N. Baheti ◽  
A. Cherian ◽  
R. Menon ◽  
A. Radhakrishnan
Keyword(s):  
Hypothalamic Hamartoma ◽  
Teaching Video

scholarly journals Medical management and antiepileptic drugs in hypothalamic hamartoma

Epilepsia ◽  
2017 ◽  
Vol 58 ◽  
pp. 16-21 ◽  
Author(s):  
J. Helen Cross ◽  
Helen Spoudeas
Keyword(s):  
Antiepileptic Drugs ◽  
Medical Management ◽  
Hypothalamic Hamartoma
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