Assessing genetic effects in survival data by correlating martingale residuals with an application to age at onset of Huntington disease

2006 ◽  
Vol 25 (18) ◽  
pp. 3190-3200 ◽  
Author(s):  
Claire M. A. Wintrebert ◽  
Aeilko H. Zwinderman ◽  
Anneke Maat-Kievit ◽  
Raymund A. Roos ◽  
Hans C. van Houwelingen
Keyword(s):  
Huntington Disease ◽  
Survival Data ◽  
Age At Onset ◽  
Genetic Effects ◽  
Martingale Residuals

scholarly journals Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Dorra Hmida-Ben Brahim ◽  
Marwa Chourabi ◽  
Sana Ben Amor ◽  
Imed Harrabi ◽  
Saoussen Trabelsi ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Neurodegenerative Disorder ◽  
Age Of Onset ◽  
Age At Onset ◽  
Specific Effect ◽  
Modifier Genes ◽  
Cag Repeats ◽  
Causative Mutation ◽  
Cag Expansion ◽  
Tunisian Patients

Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO) of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.

Association between BDNF Val66Met polymorphism and age at onset in Huntington disease

Neurology ◽  
2005 ◽  
Vol 65 (6) ◽  
pp. 964-965 ◽  
Author(s):  
J. Alberch ◽  
M. Lopez ◽  
C. Badenas ◽  
J. L. Carrasco ◽  
M. Mila ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Age At Onset ◽  
Val66met Polymorphism ◽  
Bdnf Val66met Polymorphism

Dysembryoplastic Neuroepithelial Tumor: A Surgically Curable Tumor of Young Patients with Intractable Partial Seizures

Neurosurgery ◽  
1988 ◽  
Vol 23 (5) ◽  
pp. 545-556 ◽  
Author(s):  
Catherine Daumas-Duport ◽  
Bernd W. Scheithauer ◽  
Jean-Paul Chodkiewicz ◽  
Edward R. Laws ◽  
Claude Vedrenne
Keyword(s):  
Survival Data ◽  
Postoperative Radiotherapy ◽  
Age At Onset ◽  
Young Patients ◽  
Occipital Lobe ◽  
Clinicopathological Features ◽  
Dysembryoplastic Neuroepithelial Tumor ◽  
Long Term Effects ◽  
Obvious Benefit

Abstract This report concerns the clinicopathological features of 39 cases of a morphologically unique and surgically curable group of neuroepithelial tumors associated with medically intractable partial complex seizures. All were supratentorial and characterized by intracortical location, multinodular architecture, and heterogeneity in cellular composition. The constituent cells included astrocytes, oligodendrocytes, and neurons. Because neuronal atypia was often inapparent, the tumors superficially resembled mixed oligoastrocytomas. The term “dysembryoplastic neuroepithelial tumor” (DNT) is proposed for these distinctive lesions, the clinicopathological features of which suggest a dysembryoplastic origin. With the exception of the occurrence of headaches in 2 patients, partial complex seizures were the exclusive symptom. Age at onset of symptoms ranged from 1 to 19 years (mean 9 years). In addition to the chronic nature of the seizures (range, 2 to 18 years; mean, 9 years), one-third of the patients showed radiological features, such as focal cranial deformity, indicating that the tumors had an early onset and were of long standing. In most cases, computed tomography showed a “pseudocystic,” well-demarcated, low density appearance associated in some cases with focal contrast enhancement (18%) or calcific hyperdensity (23%). The tumor involved the temporal lobe in 24 patients (62%), the frontal lobe in 12 (31%), and the parietal and/or occipital lobe in 3 cases. Although tumor removal was considered incomplete or subtotal in 17 patients (44%), long term follow-up (range, 1 to 18 years; mean, 9 years) showed neither clinical nor radiological evidence of recurrence in any patient. Comparison of the survival data of the 13 subjects who had undergone postoperative radiotherapy with 26 who had not indicated that radiation therapy was of no obvious benefit. The identification of DNT has therapeutic and prognostic implications because aggressive therapy can be avoided, thus sparing these young patients the deleterious long term effects of radio- or chemotherapy.

Predictability of Age at Onset in Huntington Disease in the Dutch Population

Medicine ◽  
2002 ◽  
Vol 81 (4) ◽  
pp. 251-259 ◽  
Author(s):  
ANNEKE MAAT-KIEVIT ◽  
MONIQUE LOSEKOOT ◽  
KOOS ZWINDERMAN ◽  
MARIA VEGTER-VAN DER VLIS ◽  
RENÉ BELFROID ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Age At Onset ◽  
Dutch Population

Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease

2010 ◽  
Vol 88 (4) ◽  
pp. 431-436 ◽  
Author(s):  
Larissa Arning ◽  
Aiden Haghikia ◽  
Elahe Taherzadeh-Fard ◽  
Carsten Saft ◽  
Jürgen Andrich ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Age At Onset ◽  
Mitochondrial Haplogroup ◽  
Atp Levels

scholarly journals Failure to confirm influence of Methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease

2005 ◽  
Vol 4 (1) ◽  
Author(s):  
Wiebke Hansen ◽  
Carsten Saft ◽  
Jürgen Andrich ◽  
Thomas Müller ◽  
Stefan Wieczorek ◽  
...  
Keyword(s):  
Huntington Disease ◽  
Age At Onset ◽  
Mthfr Polymorphisms ◽  
Methyltetrahydrofolate Reductase

scholarly journals Age-at-onset in Huntington disease

PLoS Currents ◽  
2011 ◽  
Vol 3 ◽  
pp. RRN1258 ◽  
Author(s):  
Michael Orth ◽  
Carsten Schwenke
Keyword(s):  
Huntington Disease ◽  
Age At Onset
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