Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

Brain and Development

Volumn 35, Issue 3, 2013, Pages 274-279

  Okumura, Akihisa ^a   Hayashi, Masaharu ^b   Tsurui, Hiromichi ^a   Yamakawa, Yoko ^a   Abe, Shinpei ^a   Kudo, Takahiro ^a   Suzuki, Ryuyo ^a   Shimizu, Toshiaki ^a   Shimojima, Keiko ^c   Yamamoto, Toshiyuki ^c  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Cerebellar hypoplasia; Lissencephaly; TUBA1A; Ventricular dilation

Indexed keywords

ALPHA TUBULIN; ALPHA1A TUBULIN; ANTIBIOTIC AGENT; DOBUTAMINE; UNCLASSIFIED DRUG; VALPROIC ACID;

AGYRIA; ARTICLE; ARTIFICIAL VENTILATION; BASAL GANGLION; BODY HEIGHT; BODY WEIGHT; BRAIN CORTEX; BRAIN VENTRICLE DILATATION; CAPSULA INTERNA; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CORPUS CALLOSUM AGENESIS; CORPUS STRIATUM; DENTATE NUCLEUS; FEMALE; FEVER; FOLLOW UP; GENETIC ANALYSIS; GLOBUS PALLIDUS; GROWTH DISORDER; HEAD CIRCUMFERENCE; HUMAN; HYPOPLASIA; INFERIOR OLIVE; INTENSIVE CARE; MISSENSE MUTATION; MYELINATION; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; OLFACTORY BULB; OLFACTORY TRACT; PRESCHOOL CHILD; PYRAMIDAL TRACT HYPOPLASIA; RADIATION FIELD; RESPIRATORY FAILURE; TONIC CLONIC SEIZURE;

AGENESIS OF CORPUS CALLOSUM; AUTOPSY; CEREBELLUM; CEREBRAL CORTEX; DEVELOPMENTAL DISABILITIES; FATAL OUTCOME; FEMALE; HUMANS; INFANT; LISSENCEPHALY; MAGNETIC RESONANCE IMAGING; MUTATION; NERVOUS SYSTEM MALFORMATIONS; POLYMERASE CHAIN REACTION; TUBULIN;

EID: 84873745761     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.05.006     Document Type: Article

References (13)

1. Keays D.A., Tian G., Poirier K., Huang G.J., Siebold C., Cleak J., et al. Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell 2007, 128:45-57.
2. Poirier K., Keays D.A., Francis F., Saillour Y., Bahi N., Manouvrier S., et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 2007, 28:1055-1064.
3. Fallet-Bianco C., Loeuillet L., Poirier K., Loget P., Chapon F., Pasquier L., et al. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain 2008, 131:2304-2320.
4. Lecourtois M., Poirier K., Friocourt G., Jaglin X., Goldenberg A., Saugier-Veber P., et al. Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. Acta Neuropathol 2010, 119:779-789.
5. Bahi-Buisson N., Poirier K., Boddaert N., Saillour Y., Castelnau L., Philip N., et al. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet 2008, 45:647-653.
6. Shimojima K., Komoike Y., Tohyama J., Takahashi S., Páez M.T., Nakagawa E., et al. TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics 2009, 94:414-422.
7. Friocourt G., Marcorelles P., Saugier-Veber P., Quille M.L., Marret S., Laquerrière A. Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol 2011, 121:149-170.
8. Hayashi M., Miyata R., Tanuma N. Decrease in acetylcholinergic neurons in the pedunculopontine tegmental nucleus in a patient with Prader-Willi syndrome. Neuropathology 2011, 31:280-285.
9. Miyata R., Hayashi M., Miyai K., Akashi T., Kato M., Kohyama J. Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). Brain Dev 2009, 31:456-460.
10. Hamano K., Kumada S., Hayashi M., Kurano N., Uchiyama A., Kurata K. An autopsy case of caudate nucleus lobulation accompanied with diaphragmatic eventration. Brain Dev 2006, 28:401-404.
11. Barth P.G. Cerebellar dentate dysplasia. Brain Dev 2011, 33:621-626.
12. Sohal A.P.S., Montgomery T., Mitra D., Ramesh V. TUBA1A mutation-associated lissencephaly: case report and review of the literature. Pediatr Neurol 2012, 46:127-131.
13. Kumar R.A., Pilz D.T., Babatz T.D., Cushion T.D., Harvey K., Topf M., et al. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet 2010, 19:2817-2827.