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1. Genetic influences on human brain morphology

Author

Van Erp, TGM, Cannon, TD, Tran, HL, Wobbekind, AD, Huttunen, M, Lönnqvist, J, Kaprio, J, Salonen, O, Valanne, L, Poutanen, VP, Standertskjöld-Nordenstam, CG, Toga, AW, and Thompson, PM

Subjects
heritability, brain, cortex, twin
Abstract

Structural magnetic resonance imaging (MRI) studies have started to address the contributions of genetic and environmental factors to brain morphology in healthy individuals. These studies have largely been limited to assessing heritability for single and mostly gross anatomical structures. To avoid this limitation, we developed a method using high-dimensional 3D nonlinear registration to apply an elastic deformation vector field in the cortical parameter space and assess regional cortical gray matter density on the entire cortical surface in healthy monozygotic (MZ) and dizygotic (DZ) twins. Once aligned across subjects, surface maps of gray matter density were subjected to variance component analyses. By fitting structural equation models, we generated cortical surface maps to reflect the regional percent variance explained by genetic, shared and unique environmental factors. Initial analyses suggest that cortical structure in primary motor and sensory areas is highly heritable with variance components for additive genetic influences reaching as high as 70%. ©2004 IEEE.

Published
2004

24. An Evaluation of the Test of Early Language Development as a Measure of Receptive and Expressive Language.

Author

Dale, Philip S. and Henderson, Valanne L.

Abstract

Comparison of Test of Early Language Development (TELD) scores of developmentally-delayed three- to six-year-olds (N=85) with other language and cognition measures indicated that TELD scores documented language delays, correlating strongly with other language measures, but failed to accurately classify subjects clinically classified as language-delayed. (Author/CB)

Published
1987

25. Predicting Individual Differences in School Anxiety in Early Adolescence.

Author

Henderson, Valanne L. and Dweck, Carol S.

Abstract

Addressing two issues of Dweck and Leggett's (1988) social cognitive theory of personality, this short-term longitudinal field study investigated the relationship between implicit theories about the self and school anxiety among adolescents making the transition to junior high school. It was hypothesized that students who believed that their attributes were fixed aspects of the self would experience more anxiety than others, particularly if the former reported low confidence in the attribute. Participating were 110 seventh graders who responded to assessments of theory of intelligence, confidence in intelligence, and school anxiety. Findings indicated a main effect for theory of intelligence, showing that, compared to 'incremental theorists', 'entity theorists' had higher anxiety levels. A main effect for confidence in intelligence showed that students with low confidence had higher anxiety than others. As predicted, the interaction of these two variables was significant, indicating that entity theorists with low confidence had higher anxiety than other students. Analogous measures in the domain of personality yielded similar results. No main effects were found for sex of subject. The effect of grades on anxiety was not significant. It is concluded that results support Dweck and Leggett and provide insight into the 'storm and stress' hypothesis, indicating that for some students the changes in adolescence are threatening, while others may find them an opportunity for growth and development. Figures and assessment instruments are attached. (RH)

Published
1989

26. Theories of Intelligence: Background and Measures.

Author

Dweck, Carol S. and Henderson, Valanne L.

Abstract

Research on implicit beliefs or theories about intelligence has shown that those with entity theories tend to be oriented toward performance goals--that is, toward documenting their intelligence, while those with incremental theories tend to be oriented toward learning goals--that is, toward developing their intelligence. This paper discusses measures used to assess individuals' theories, confidence, and goal orientation. Appendices provide: (1) an intelligence belief measure suitable for children 10 years of age and older; (2) three confidence measures: one suitable for children 9-12 years of age, and two suitable for children of 12 years and older; and (3) a goal orientation measure. Concluding remarks express the hope that the measures will prove to be useful to other researchers. (RH)

Published
1989

27. Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Author

Tommiska, J. (Johanna), Känsäkoski, J. (Johanna), Skibsbye, L. (Lasse), Vaaralahti, K. (Kirsi), Liu, X. (Xiaonan), Lodge, E. J. (Emily J.), Tang, C. (Chuyi), Yuan, L. (Lei), Fagerholm, R. (Rainer), Kanters, J. K. (Jørgen K.), Lahermo, P. (Päivi), Kaunisto, M. (Mari), Keski-Filppula, R. (Riikka), Vuoristo, S. (Sanna), Pulli, K. (Kristiina), Ebeling, T. (Tapani), Valanne, L. (Leena), Sankila, E.-M. (Eeva-Marja), Kivirikko, S. (Sirpa), Lääperi, M. (Mitja), Casoni, F. (Filippo), Giacobini, P. (Paolo), Phan-Hug, F. (Franziska), Buki, T. (Tal), Tena-Sempere, M. (Manuel), Pitteloud, N. (Nelly), Veijola, R. (Riitta), Lipsanen-Nyman, M. (Marita), Kaunisto, K. (Kari), Mollard, P. (Patrice), Andoniadou, C. L. (Cynthia L.), Hirsch, J. A. (Joel A.), Varjosalo, M. (Markku), Jespersen, T. (Thomas), Raivio, T. (Taneli), Tommiska, J. (Johanna), Känsäkoski, J. (Johanna), Skibsbye, L. (Lasse), Vaaralahti, K. (Kirsi), Liu, X. (Xiaonan), Lodge, E. J. (Emily J.), Tang, C. (Chuyi), Yuan, L. (Lei), Fagerholm, R. (Rainer), Kanters, J. K. (Jørgen K.), Lahermo, P. (Päivi), Kaunisto, M. (Mari), Keski-Filppula, R. (Riikka), Vuoristo, S. (Sanna), Pulli, K. (Kristiina), Ebeling, T. (Tapani), Valanne, L. (Leena), Sankila, E.-M. (Eeva-Marja), Kivirikko, S. (Sirpa), Lääperi, M. (Mitja), Casoni, F. (Filippo), Giacobini, P. (Paolo), Phan-Hug, F. (Franziska), Buki, T. (Tal), Tena-Sempere, M. (Manuel), Pitteloud, N. (Nelly), Veijola, R. (Riitta), Lipsanen-Nyman, M. (Marita), Kaunisto, K. (Kari), Mollard, P. (Patrice), Andoniadou, C. L. (Cynthia L.), Hirsch, J. A. (Joel A.), Varjosalo, M. (Markku), Jespersen, T. (Thomas), and Raivio, T. (Taneli)

Abstract

Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes. Co-expressing KCNQ1 with the KCNE2 β-subunit shows that both KCNQ1 mutants increase current levels in patch clamp analyses and are associated with reduced pituitary hormone secretion from AtT-20 cells. In conclusion, our results reveal a role for the KCNQ1 potassium channel in the regulation of human growth, and show that growth hormone deficiency associated with maternally inherited gingival fibromatosis is an allelic disorder with cardiac arrhythmia syndromes caused by KCNQ1 mutations.

Published
2017

29. [Untitled]

Author

Michail G. Lagoudakis, Valanne L MacGyvers, and Bill Manaris

Subjects
Linguistics and Language, Multimedia, Alphanumeric, Computer science, business.industry, Usability, computer.software_genre, Language and Linguistics, Human-Computer Interaction, Phone, Human–computer interaction, Handwriting recognition, Active listening, Computer Vision and Pattern Recognition, User interface, business, Stylus, computer, Mobile device, Software
Abstract

Computer users with motor impairments find it difficult and, in many cases, impossible to access PC functionality through the physical keyboard-and-mouse interface. Studies show that even able-bodied users experience similar difficulties when interacting with mobile devices; this is due to the reduced size/usability of the input interfaces. Advances in speech recognition have made it possible to design speech interfaces for alphanumeric data entry and indirect manipulation (cursor control). Although several related commercial applications exist, such systems do not provide a complete solution for arbitrary keyboard and mouse access, such as the access needed for, say, typing, compiling, and executing a C++ program. We carried out a usability study to support the development of a speech user interface for arbitrary keyboard access and mouse control. The study showed that speech interaction with an ideal listening keyboard is better for users with motor impairments than handstick, in terms of task completion time (37% better), typing rate (74% better), and error rates (63% better). We believe that these results apply to both permanent and task-induced motor impairments. In particular, a follow-up experiment showed that handstick approximates conventional modes of alphanumeric input available on mobile devices (e.g., PDAs, cellular phones, and personal organizers). These modes of input include miniaturized keyboards, stylus “soft” keyboards, cellular phone numberpads, and handwriting recognition software. This result suggests that a listening keyboard would be an effective mode for alphanumeric input on future mobile devices. This study contributed to the development of SUITEKeys—a speech user interface for arbitrary keyboard and mouse access available for MS platforms as freeware.

Published
2002

30. In the eyes of the beholder: students’ and teachers’ judgments of students’ motivation

Author

Deborah Stipek, Karen B. Givvin, Julie M. Salmon, and Valanne L MacGyvers

Subjects
Effective interventions, Perception, media_common.quotation_subject, Primary education, Mathematics education, Psychology, Education, media_common
Abstract

This study was designed to examine the nature and accuracy of teachers’ judgments about students’ motivation related to mathematics. Seventeen fourth- through sixth-grade teachers and 100 of their students participated in this study. Teachers were asked to rate six target students’ motivation four times during the school year. At each of these times students also rated their own motivation. Teachers’ ratings were more stable over time and across mathematics topics and were less differentiated across motivation dimensions than were students’ ratings. The findings suggest that teachers need to pay careful attention to evidence related to children's motivation that might contradict their perceptions and therefore support more effective interventions.

Published
2001

31. Congenital Varicella-Zoster Virus Infection After Maternal Subclinical Infection: Clinical and Neuropathological Findings

Author

Pia Mustakangas, Valanne L, Marjaleena Koskiniemi, and Kirsi Mustonen

Subjects
Male, Herpesvirus 3, Human, viruses, Varicella-zoster virus infection, Antibodies, Viral, Herpes Zoster, Virus, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Pregnancy, Seizures, 030225 pediatrics, Humans, Medicine, 030212 general & internal medicine, Pregnancy Complications, Infectious, Subclinical infection, Neurologic Examination, integumentary system, biology, business.industry, Infant, Newborn, virus diseases, Obstetrics and Gynecology, Electroencephalography, medicine.disease, Infant newborn, 3. Good health, Pediatrics, Perinatology and Child Health, Immunology, biology.protein, Female, Antibody, business
Abstract

It is known that varicella-zoster virus (VZV) can cause asymptomatic infections, but it has not been described that congenital infection can be caused by maternal subclinical infection. The purpose of this study is to evaluate clinical and neuropathologic findings of infants with neonatal seizures and cerebrospinal fluid (CSF) VZV antibodies, but no maternal clinical VZV infection during the pregnancy.Screening of 201 neonates were studied for congenital viral infections, because of neurologic problems of unknown origin. Antibodies to 16 different microbes were investigated from the CSF and the serum of the neonates, as well as from the first trimester and postpartum serum of their mothers. Clinical symptoms and signs as well as neuropathology of those infants with antibodies to VZV in CSF were evaluated in this study.Four neonates with antibodies to VZV in CSF were identified and CSF findings were reported earlier. Their mothers had laboratory evidence of infection, based on a significant rise in serum VZV antibody level during pregnancy in three mothers, and a constantly high antibody level to VZV in one mother. All four children had seizures and abnormalities in muscular tone during the neonatal period, but no typical manifestations of a congenital VZV infection. One child died at the age of 4 months. At autopsy, neuropathologic examination showed foci of astrocytic hyperplasia and hypertrophy but no specific signs of viral infection.Maternal subclinical VZV infection can cause congenital infection with neurologic symptoms and signs in the child.

Published
2001

32. Teachers’ beliefs and practices related to mathematics instruction

Author

Valanne L MacGyvers, Karen B. Givvin, Deborah Stipek, and Julie M. Salmon

Subjects
Teaching method, media_common.quotation_subject, Self-esteem, Mathematics education, Primary education, Cognitively Guided Instruction, Mathematical ability, Psychology, Mathematics instruction, Value (mathematics), Education, media_common
Abstract

Beliefs and practices related to mathematics were assessed for 21 fourth- through sixth-grade teachers. At the beginning and the end of the school year teachers’ beliefs about (1) the nature of mathematics (i.e., procedures to solve problems versus a tool for thought), (2) mathematics learning (i.e., focusing on getting correct solutions versus understanding mathematical concepts), (3) who should control students’ mathematical activity, (4) the nature of mathematical ability (i.e., fixed versus malleable), and (5) the value of extrinsic rewards for getting students to engage in mathematics activities were assessed. (6) Teachers self-confidence and enjoyment of mathematics and mathematics teaching were also assessed. Analyses were conducted to assess the coherence among these beliefs and associations between teachers’ beliefs and their observed classroom practices and self-reported evaluation criteria. Findings showed substantial coherence among teachers’ beliefs and consistent associations between their beliefs and their practices. Teachers’ self-confidence as mathematics teachers was also significantly associated with their students’ self-confidence as mathematical learners.

Published
2001

33. Can a Teacher Intervention Improve Classroom Practices and Student Motivation in Mathematics?

Author

Karen B. Givvin, Deborah Stipek, Valanne L MacGyvers, and Julie M. Salmon

Subjects
media_common.quotation_subject, Teaching method, Professional development, Primary education, Self-esteem, Affect (psychology), Education, Educational research, Intervention (counseling), Developmental and Educational Psychology, Mathematics education, Psychology, Autonomy, media_common
Abstract

Classroom practices believed to affect student motivation were assessed for 24 upper elementary school teachers during a unit on fractions. Two groups of mathematics “reform-minded” teachers participated in professional development programs—in either an intensive intervention or an intervention involving primarily teacher support. A 3rd group of teachers implemented traditional, textbased instruction and was not involved in any intervention. For most practices assessed, the 2 reform-minded groups of teachers did not differ significantly from each other, but both differed from the traditional teachers. The reform-minded teachers emphasized effort, mastery, and understanding more; encouraged student autonomy more; and created a psychologically safer environment than the traditional teachers did. The teachers in the intensive intervention, which included training in motivation, made more accurate judgments of students' motivation than the other reform-minded teachers did. There was modest evidence t...

Published
1998

36. HIGH GRADE GLIOMAS AND DIPG

Author

Classen, C. F., primary, William, D., additional, Linnebacher, M., additional, Farhod, A., additional, Kedr, W., additional, Elsabe, B., additional, Fadel, S., additional, Van Gool, S., additional, De Vleeschouwer, S., additional, Koks, C., additional, Garg, A., additional, Ehrhardt, M., additional, Riva, M., additional, Agostinis, P., additional, Graf, N., additional, Yao, T.-W., additional, Yoshida, Y., additional, Zhang, J., additional, Ozawa, T., additional, James, D., additional, Nicolaides, T., additional, Kebudi, R., additional, Cakir, F. B., additional, Gorgun, O., additional, Agaoglu, F. Y., additional, Darendeliler, E., additional, Al-Kofide, A., additional, Al-Shail, E., additional, Khafaga, Y., additional, Al-Hindi, H., additional, Dababo, M., additional, Haq, A. U., additional, Anas, M., additional, Barria, M. G., additional, Siddiqui, K., additional, Hassounah, M., additional, Ayas, M., additional, van Zanten, S. V., additional, Jansen, M., additional, van Vuurden, D., additional, Huisman, M., additional, Vugts, D., additional, Hoekstra, O., additional, van Dongen, G., additional, Kaspers, G., additional, Cockle, J., additional, Ilett, E., additional, Scott, K., additional, Bruning-Richardson, A., additional, Picton, S., additional, Short, S., additional, Melcher, A., additional, Benesch, M., additional, Warmuth-Metz, M., additional, von Bueren, A. O., additional, Hoffmann, M., additional, Pietsch, T., additional, Kortmann, R.-D., additional, Eyrich, M., additional, Rutkowski, S., additional, Fruhwald, M. C., additional, Faber, J., additional, Kramm, C., additional, Porkholm, M., additional, Valanne, L., additional, Lonnqvist, T., additional, Holm, S., additional, Lannering, B., additional, Riikonen, P., additional, Wojcik, D., additional, Sehested, A., additional, Clausen, N., additional, Harila-Saari, A., additional, Schomerus, E., additional, Thorarinsdottir, H. K., additional, Lahteenmaki, P., additional, Arola, M., additional, Thomassen, H., additional, Saarinen-Pihkala, U. M., additional, Kivivuori, S.-M., additional, Buczkowicz, P., additional, Hoeman, C., additional, Rakopoulos, P., additional, Pajovic, S., additional, Morrison, A., additional, Bouffet, E., additional, Bartels, U., additional, Becher, O., additional, Hawkins, C., additional, Gould, T. W. A., additional, Rahman, C. V., additional, Smith, S. J., additional, Barrett, D. A., additional, Shakesheff, K. M., additional, Grundy, R. G., additional, Rahman, R., additional, Barua, N., additional, Cronin, D., additional, Gill, S., additional, Lowisl, S., additional, Hochart, A., additional, Maurage, C.-A., additional, Rocourt, N., additional, Vinchon, M., additional, Kerdraon, O., additional, Escande, F., additional, Grill, J., additional, Pick, V. K., additional, Leblond, P., additional, Burzynski, G., additional, Janicki, T., additional, Burzynski, S., additional, Marszalek, A., additional, Ramani, N., additional, Zaky, W., additional, Kannan, G., additional, Morani, A., additional, Sandberg, D., additional, Ketonen, L., additional, Maher, O., additional, Corrales-Medina, F., additional, Meador, H., additional, Khatua, S., additional, Brassesco, M., additional, Delsin, L., additional, Roberto, G., additional, Silva, C., additional, Ana, L., additional, Rego, E., additional, Scrideli, C., additional, Umezawa, K., additional, Tone, L., additional, Kim, S. J., additional, Kim, C.-Y., additional, Kim, I.-A., additional, Han, J. H., additional, Choi, B.-S., additional, Ahn, H. S., additional, Choi, H. S., additional, Haque, F., additional, Layfield, R., additional, Grundy, R., additional, Gandola, L., additional, Pecori, E., additional, Biassoni, V., additional, Schiavello, E., additional, Chiruzzi, C., additional, Spreafico, F., additional, Modena, P., additional, Bach, F., additional, Pignoli, E., additional, Massimino, M., additional, Drogosiewicz, M., additional, Dembowska-Baginska, B., additional, Jurkiewicz, E., additional, Filipek, I., additional, Perek-Polnik, M., additional, Swieszkowska, E., additional, Perek, D., additional, Bender, S., additional, Jones, D. T., additional, Warnatz, H.-J., additional, Hutter, B., additional, Zichner, T., additional, Gronych, J., additional, Korshunov, A., additional, Eils, R., additional, Korbel, J. O., additional, Yaspo, M.-L., additional, Lichter, P., additional, Pfister, S. M., additional, Yadavilli, S., additional, Becher, O. J., additional, Kambhampati, M., additional, Packer, R. J., additional, Nazarian, J., additional, Lechon, F. C., additional, Fowkes, L., additional, Khabra, K., additional, Martin-Retortillo, L. M., additional, Marshall, L. V., additional, Vaidya, S., additional, Koh, D.-M., additional, Leach, M. O., additional, Pearson, A. D., additional, Zacharoulis, S., additional, Schrey, D., additional, Barone, G., additional, Panditharatna, E., additional, Stampar, M., additional, Siu, A., additional, Gordish-Dressman, H., additional, Devaney, J., additional, Hwang, E. I., additional, Chung, A. H., additional, Mittapalli, R. K., additional, Elmquist, W. F., additional, Castel, D., additional, Debily, M.-A., additional, Philippe, C., additional, Truffaux, N., additional, Taylor, K., additional, Calmon, R., additional, Boddaert, N., additional, Le Dret, L., additional, Saulnier, P., additional, Lacroix, L., additional, Mackay, A., additional, Jones, C., additional, Puget, S., additional, Sainte-Rose, C., additional, Blauwblomme, T., additional, Varlet, P., additional, Entz-Werle, N., additional, Maugard, C., additional, Bougeard, G., additional, Nguyen, A., additional, Chenard, M. P., additional, Schneider, A., additional, Gaub, M. P., additional, Tsoli, M., additional, Vanniasinghe, A., additional, Luk, P., additional, Dilda, P., additional, Haber, M., additional, Hogg, P., additional, Ziegler, D., additional, Simon, S., additional, Monje, M., additional, Gurova, K., additional, Gudkov, A., additional, Zapotocky, M., additional, Churackova, M., additional, Malinova, B., additional, Zamecnik, J., additional, Kyncl, M., additional, Tichy, M., additional, Puchmajerova, A., additional, Stary, J., additional, Sumerauer, D., additional, Boult, J., additional, Vinci, M., additional, Perryman, L., additional, Box, G., additional, Jury, A., additional, Popov, S., additional, Ingram, W., additional, Eccles, S., additional, Robinson, S., additional, Emir, S., additional, Demir, H. A., additional, Bayram, C., additional, Cetindag, F., additional, Kabacam, G. B., additional, Fettah, A., additional, Li, J., additional, Jamin, Y., additional, Cummings, C., additional, Bamber, J., additional, Sinkus, R., additional, Nandhabalan, M., additional, Bjerke, L., additional, Burford, A., additional, von Bueren, A., additional, Baudis, M., additional, Clarke, P., additional, Collins, I., additional, Workman, P., additional, Olaciregui, N., additional, Mora, J., additional, Carcaboso, A., additional, Bullock, A., additional, Alonso, M., additional, de Torres, C., additional, Cruz, O., additional, Pencreach, E., additional, Moussalieh, F. M., additional, Guenot, D., additional, Namer, I., additional, Pollack, I., additional, Jakacki, R., additional, Butterfield, L., additional, Hamilton, R., additional, Panigrahy, A., additional, Potter, D., additional, Connelly, A., additional, Dibridge, S., additional, Whiteside, T., additional, Okada, H., additional, Ahsan, S., additional, Raabe, E., additional, Haffner, M., additional, Warren, K., additional, Quezado, M., additional, Ballester, L., additional, Eberhart, C., additional, Rodriguez, F., additional, Ramachandran, C., additional, Nair, S., additional, Quirrin, K.-W., additional, Khatib, Z., additional, Escalon, E., additional, Melnick, S., additional, Classen, C. F., additional, Hofmann, M., additional, Schmid, I., additional, Simon, T., additional, Maass, E., additional, Russo, A., additional, Fleischhack, G., additional, Becker, M., additional, Hauch, H., additional, Sander, A., additional, Grasso, C., additional, Berlow, N., additional, Liu, L., additional, Davis, L., additional, Huang, E., additional, Woo, P., additional, Tang, Y., additional, Ponnuswami, A., additional, Chen, S., additional, Huang, Y., additional, Hutt-Cabezas, M., additional, Dret, L., additional, Meltzer, P., additional, Mao, H., additional, Abraham, J., additional, Fouladi, M., additional, Svalina, M. N., additional, Wang, N., additional, Hulleman, E., additional, Li, X.-N., additional, Keller, C., additional, Spellman, P. T., additional, Pal, R., additional, Jansen, M. H. A., additional, Sewing, A. C. P., additional, Lagerweij, T., additional, Vuchts, D. J., additional, van Vuurden, D. G., additional, Caretti, V., additional, Wesseling, P., additional, Kaspers, G. J. L., additional, Cohen, K., additional, Pearl, M., additional, Kogiso, M., additional, Zhang, L., additional, Qi, L., additional, Lindsay, H., additional, Lin, F., additional, Berg, S., additional, Muscal, J., additional, Amayiri, N., additional, Tabori, U., additional, Campbel, B., additional, Bakry, D., additional, Aronson, M., additional, Durno, C., additional, Gallinger, S., additional, Malkin, D., additional, Qaddumi, I., additional, Musharbash, A., additional, Swaidan, M., additional, Al-Hussaini, M., additional, Shandilya, S., additional, McCully, C., additional, Murphy, R., additional, Akshintala, S., additional, Cole, D., additional, Macallister, R. P., additional, Cruz, R., additional, Widemann, B., additional, Salloum, R., additional, Smith, A., additional, Glaunert, M., additional, Ramkissoon, A., additional, Peterson, S., additional, Baker, S., additional, Chow, L., additional, Sandgren, J., additional, Pfeifer, S., additional, Popova, S., additional, Alafuzoff, I., additional, de Stahl, T. D., additional, Pietschmann, S., additional, Kerber, M. J., additional, Zwiener, I., additional, Henke, G., additional, Muller, K., additional, Sieow, N. Y.-F., additional, Hoe, R. H. M., additional, Tan, A. M., additional, Chan, M. Y., additional, Soh, S. Y., additional, Burrell, K., additional, Chornenkyy, Y., additional, Remke, M., additional, Golbourn, B., additional, Barzczyk, M., additional, Taylor, M., additional, Rutka, J., additional, Dirks, P., additional, Zadeh, G., additional, Agnihotri, S., additional, Hashizume, R., additional, Ihara, Y., additional, Andor, N., additional, Chen, X., additional, Lerner, R., additional, Huang, X., additional, Tom, M., additional, Solomon, D., additional, Mueller, S., additional, Petritsch, C., additional, Zhang, Z., additional, Gupta, N., additional, Waldman, T., additional, Dujua, A., additional, Co, J., additional, Hernandez, F., additional, Doromal, D., additional, Hegde, M., additional, Wakefield, A., additional, Brawley, V., additional, Grada, Z., additional, Byrd, T., additional, Chow, K., additional, Krebs, S., additional, Heslop, H., additional, Gottschalk, S., additional, Yvon, E., additional, Ahmed, N., additional, Cornilleau, G., additional, Paulsson, J., additional, Andreiuolo, F., additional, Guerrini-Rousseau, L., additional, Geoerger, B., additional, Vassal, G., additional, Ostman, A., additional, Parsons, D. W., additional, Trevino, L. R., additional, Gao, F., additional, Shen, X., additional, Hampton, O., additional, Kosigo, M., additional, Baxter, P. A., additional, Su, J. M., additional, Chintagumpala, M., additional, Dauser, R., additional, Adesina, A., additional, Plon, S. E., additional, Wheeler, D. A., additional, Lau, C. C., additional, Gielen, G., additional, Muehlen, A. z., additional, Kwiecien, R., additional, Wolff, J., additional, Lulla, R. R., additional, Laskowski, J., additional, Goldman, S., additional, Gopalakrishnan, V., additional, Fangusaro, J., additional, Kieran, M., additional, Fontebasso, A., additional, Papillon-Cavanagh, S., additional, Schwartzentruber, J., additional, Nikbakht, H., additional, Gerges, N., additional, Fiset, P.-O., additional, Bechet, D., additional, Faury, D., additional, De Jay, N., additional, Ramkissoon, L., additional, Corcoran, A., additional, Jones, D., additional, Sturm, D., additional, Johann, P., additional, Tomita, T., additional, Nagib, M., additional, Bendel, A., additional, Goumnerova, L., additional, Bowers, D. C., additional, Leonard, J. R., additional, Rubin, J. B., additional, Alden, T., additional, DiPatri, A., additional, Browd, S., additional, Leary, S., additional, Jallo, G., additional, Prados, M. D., additional, Banerjee, A., additional, Carret, A.-S., additional, Ellezam, B., additional, Crevier, L., additional, Klekner, A., additional, Bognar, L., additional, Hauser, P., additional, Garami, M., additional, Myseros, J., additional, Dong, Z., additional, Siegel, P. M., additional, Gump, W., additional, Ayyanar, K., additional, Ragheb, J., additional, Krieger, M., additional, Kiehna, E., additional, Robison, N., additional, Harter, D., additional, Gardner, S., additional, Handler, M., additional, Foreman, N., additional, Brahma, B., additional, MacDonald, T., additional, Malkin, H., additional, Chi, S., additional, Manley, P., additional, Bandopadhayay, P., additional, Greenspan, L., additional, Ligon, A., additional, Albrecht, S., additional, Ligon, K. L., additional, Majewski, J., additional, Jabado, N., additional, Cordero, F., additional, Halvorson, K., additional, Taylor, I., additional, Hutt, M., additional, Weingart, M., additional, Price, A., additional, Kantar, M., additional, Onen, S., additional, Kamer, S., additional, Turhan, T., additional, Kitis, O., additional, Ertan, Y., additional, Cetingul, N., additional, Anacak, Y., additional, Akalin, T., additional, Ersahin, Y., additional, Mason, G., additional, Ho, C., additional, Crozier, F., additional, Vezina, G., additional, Packer, R., additional, Hwang, E., additional, Gilheeney, S., additional, Millard, N., additional, DeBraganca, K., additional, Khakoo, Y., additional, Kramer, K., additional, Wolden, S., additional, Donzelli, M., additional, Fischer, C., additional, Petriccione, M., additional, Dunkel, I., additional, Afzal, S., additional, Fleming, A., additional, Larouche, V., additional, Zelcer, S., additional, Johnston, D. L., additional, Kostova, M., additional, Mpofu, C., additional, Decarie, J.-C., additional, Strother, D., additional, Lafay-Cousin, L., additional, Eisenstat, D., additional, Fryer, C., additional, Hukin, J., additional, Hsu, M., additional, Lasky, J., additional, Moore, T., additional, Liau, L., additional, Davidson, T., additional, Prins, R., additional, Hassal, T., additional, Baugh, J., additional, Kirkendall, J., additional, Doughman, R., additional, Leach, J., additional, Jones, B., additional, Miles, L., additional, Hargrave, D., additional, Jacques, T., additional, Savage, S., additional, Saunders, D., additional, Wallace, R., additional, Flutter, B., additional, Morgenestern, D., additional, Blanco, E., additional, Howe, K., additional, Lowdell, M., additional, Samuel, E., additional, Michalski, A., additional, Anderson, J., additional, Arakawa, Y., additional, Umeda, K., additional, Watanabe, K.-i., additional, Mizowaki, T., additional, Hiraoka, M., additional, Hiramatsu, H., additional, Adachi, S., additional, Kunieda, T., additional, Takagi, Y., additional, Miyamoto, S., additional, Venneti, S., additional, Santi, M., additional, Felicella, M. M., additional, Sullivan, L. M., additional, Dolgalev, I., additional, Martinez, D., additional, Perry, A., additional, Lewis, P. W., additional, Allis, D. C., additional, Thompson, C. B., additional, and Judkins, A. R., additional

Published
2014
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40. Cerebroretinal microangiopathy with calcifications and cysts.

Author

Linnankivi, T, Valanne, L, Paetau, A, Alafuzoff, Irina, Hakumäki, J M, Kivelä, T, Lönnqvist, T, Mäkitie, O, Pääkkönen, L, Vainionpää, L, Vanninen, R, Herva, R, Pihko, H, Linnankivi, T, Valanne, L, Paetau, A, Alafuzoff, Irina, Hakumäki, J M, Kivelä, T, Lönnqvist, T, Mäkitie, O, Pääkkönen, L, Vainionpää, L, Vanninen, R, Herva, R, and Pihko, H

Abstract

BACKGROUND: Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus and leukoencephalopathy with calcifications and cysts. In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (Coats disease), sparse hair, and dysplastic nails without cyst formation. METHODS: We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy. We reviewed clinical, ophthalmologic, radiologic and neuropathologic data of seven deceased patients and studied five patients prospectively. RESULTS: Eleven patients were small for gestational age; the other symptoms emerged from infancy to adolescence. All patients had neurologic symptoms including seizures, spasticity, dystonia, ataxia, and cognitive decline. Progressive intracerebral calcifications involved deep gray nuclei, brainstem, cerebral and cerebellar white matter, and dentate nuclei and were accompanied by diffuse white matter signal changes and, in five patients, cerebral cysts. Eleven patients had retinal telangiectasias or angiomas. Additional features were skeletal and hematologic abnormalities, intestinal bleeding, and poor growth. Neuropathologic examination showed extensive calcinosis and abnormal small vessels with thickened, hyalinized wall and reduced lumen. CONCLUSIONS: Our data suggest that Coats plus syndrome and leukoencephalopathy with calcifications and cysts belong to the same spectrum. The primary abnormality seems to be an obliterative cerebral angiopathy involving small vessels, leading to dystrophic calcifications via slow necrosis and finally to formation of cysts and secondary white matter abnormalities.

Published
2006
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44. POLG1 manifestations in childhood

Author

Isohanni, P., primary, Hakonen, A.H., additional, Euro, L., additional, Paetau, I., additional, Linnankivi, T., additional, Liukkonen, E., additional, Wallden, T., additional, Luostarinen, L., additional, Valanne, L., additional, Paetau, A., additional, Uusimaa, J., additional, Lönnqvist, T., additional, Suomalainen, A., additional, and Pihko, H., additional

Published
2011
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46. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

Author

Isohanni, P., primary, Linnankivi, T., additional, Buzkova, J., additional, Lonnqvist, T., additional, Pihko, H., additional, Valanne, L., additional, Tienari, P. J., additional, Elovaara, I., additional, Pirttila, T., additional, Reunanen, M., additional, Koivisto, K., additional, Marjavaara, S., additional, and Suomalainen, A., additional

Published
2009
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48. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

Author

Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., Bokhoven, J.H.L.M. van, Brunner, H.G., Voit, T., Topaloglu, H., Dobyns, W.B., Lehesjoki, A.E., Cormand, B., Pihko, H., Bayes, M., Valanne, L., Santavuori, P., Talim, B., Gershoni-Baruch, R., Ahmad, A., Bokhoven, J.H.L.M. van, Brunner, H.G., Voit, T., Topaloglu, H., Dobyns, W.B., and Lehesjoki, A.E.

Abstract

Item does not contain fulltext, BACKGROUND: Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. Lack of consistent ocular abnormalities in FCMD has allowed a clear clinical demarcation of this syndrome, whereas the phenotypic distinction between MEB and WWS has remained controversial. The MEB gene is located on chromosome 1p32-p34. OBJECTIVES: To establish distinguishing diagnostic criteria for MEB and WWS and to determine whether MEB and WWS are allelic disorders. METHODS: The authors undertook clinical characterization followed by linkage analysis in 19 MEB/WWS families with 29 affected individuals. With use of clinical diagnostic criteria based on Finnish patients with MEB, each patient was categorized as having either MEB or WWS. A linkage and haplotype analysis using 10 markers spanning the MEB locus was performed on the entire family resource. RESULTS: Patients in 11 families were classified as having MEB and in 8 families as WWS. Strong evidence in favor of genetic heterogeneity was obtained in the 19 families. There was evidence for linkage to 1p32-p34 in all but 1 of the 11 pedigrees segregating the MEB phenotype. In contrast, linkage to the MEB locus was excluded in seven of eight of the WWS families. CONCLUSION: These results allow the classification of MEB and WWS as distinct disorders on both clinical and genetic grounds and provide a basis for the mapping of the WWS gene(s).

Published
2001

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