Brain Anomalies (brain + anomaly)

Distribution by Scientific Domains


Selected Abstracts


Embryonic holoprosencephaly: pathology and phenotypic variability

CONGENITAL ANOMALIES, Issue 4 2006
Shigehito Yamada
ABSTRACT Holoprosencephaly (HPE) is one of the major brain anomalies caused by the failure of cleavage of the prosencephalon during the early stage of development. Over 200 cases of HPE in the Kyoto Collection of Human Embryos were observed grossly and histologically, with special emphasis on the anomalies of the brain, face and eye. The facial anomalies of HPE human embryos after Carnegie stage (CS) 18 could be classified into cyclopia, synophthalmia, ethmocephaly, cebocephaly, and premaxillary agenesis, similarly as the classical classification for postnatal cases. On the other hand, HPE embryos at CS 13,17 showed some characteristic facies which are different from those in older embryos. In the present paper, pathology and phenotypic variability in HPE embryos were discussed from the embryopathological point of view. Recently, the molecular mechanism of HPE has been clarified by the techniques of gene manipulation, and various HPE genes have been identified by gene analysis of familial HPE cases. HPE is one of the major CNS anomalies which have been extensively studied and provides a clue to the mechanisms of normal and abnormal development of craniofacial structures. [source]


Jaw-opening dystonia (Brueghel's syndrome) associated with cavum septi pellucidi and Verga's ventricle , a case report

EUROPEAN JOURNAL OF NEUROLOGY, Issue 6 2003
T. Miyaoka
Jaw-opening dystonia (oromandibular dystonia with jaw-opening; Brueghel's syndrome) is a rare condition, and only a limited number of cases have been reported in the literature. However, many patients may remain undiscovered or misdiagnosed, like a patient described previously. A case (40-year-old man) of jaw-opening dystonia (oromandibular dystonia with jaw-opening; Brueghel's syndrome) is reported. In this case, brain anomalies, cavum septi pellucidi and Verga's ventricle, were observed on magnetic resonance imaging of the brain. This case and a review of the literature indicate the presence of organic factors in the etiology of Brueghel's syndrome. The etiological relationship of brain anomalies in Bruegel's syndrome is discussed. [source]


Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study,,§

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2010
Eric A. Miller¶
Abstract Holoprosencephaly (HPE) is a complex structural brain anomaly that results from incomplete cleavage of the forebrain. The prevalence of HPE at birth is low, and risk factors have been difficult to identify. Using data from a large multi-state population-based case-control study, we examined risk factors for non-syndromic HPE. Data from maternal telephone interviews were available for 74 infants with HPE and 5871 controls born between 1997 and 2004. Several characteristics and exposures were examined, including pregnancy history, medical history, maternal diet and use of nutritional supplements, medications, tobacco, alcohol, and illegal substances. We used ,2 -tests and logistic regression (excluding women with pre-existing diabetes) to examine associations with HPE. Except for diet (year before pregnancy) and sexually transmitted infections (STIs) (throughout pregnancy), most exposures were examined for the time period from the month before to the third month of pregnancy. HPE was found to be associated with pre-existing diabetes (,2,=,6.0; P,=,0.01), aspirin use [adjusted odds ratio (aOR),=,3.4; 95% confidence interval (CI) 1.6,6.9], lower education level (aOR,=,2.5; 95%CI 1.1,5.6), and use of assisted reproductive technologies (ART) (crude OR,=,4.2; 95%CI 1.3,13.7). Consistent maternal folic acid use appeared to be protective (aOR,=,0.4; 95%CI 0.2,1.0), but the association was of borderline statistical significance. While some of these findings support previous observations, other potential risk factors identified warrant further study. Published 2010 Wiley-Liss, Inc. [source]


On the nature and evolution of the neural bases of human language

AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue S35 2002
Philip Lieberman
Abstract The traditional theory equating the brain bases of language with Broca's and Wernicke's neocortical areas is wrong. Neural circuits linking activity in anatomically segregated populations of neurons in subcortical structures and the neocortex throughout the human brain regulate complex behaviors such as walking, talking, and comprehending the meaning of sentences. When we hear or read a word, neural structures involved in the perception or real-world associations of the word are activated as well as posterior cortical regions adjacent to Wernicke's area. Many areas of the neocortex and subcortical structures support the cortical-striatal-cortical circuits that confer complex syntactic ability, speech production, and a large vocabulary. However, many of these structures also form part of the neural circuits regulating other aspects of behavior. For example, the basal ganglia, which regulate motor control, are also crucial elements in the circuits that confer human linguistic ability andreasoning. The cerebellum, traditionally associated with motor control, is active in motor learning. The basal ganglia are also key elements in reward-based learning. Data from studies of Broca's aphasia, Parkinson's disease, hypoxia, focal brain damage, and a genetically transmitted brain anomaly (the putative "language gene," family KE), and from comparative studies of the brains and behavior of other species, demonstrate that the basal ganglia sequence the discrete elements that constitute a complete motor act, syntactic process, or thought process. Imaging studies of intact human subjects and electrophysiologic and tracer studies of the brains and behavior of other species confirm these findings. As Dobzansky put it, "Nothing in biology makes sense except in the light of evolution" (cited in Mayr, 1982). That applies with as much force to the human brain and the neural bases of language as it does to the human foot or jaw. The converse follows: the mark of evolution on the brains of human beings and other species provides insight into the evolution of the brain bases of human language. The neural substrate that regulated motor control in the common ancestor of apes and humans most likely was modified to enhance cognitive and linguistic ability. Speech communication played a central role in this process. However, the process that ultimately resulted in the human brain may have started when our earliest hominid ancestors began to walk. Yrbk Phys Anthropol 45:36,62, 2002. © 2002 Wiley-Liss, Inc. [source]