Dominantly inherited microcephaly, short stature and normal intelligence

Hennekam, Raoul C. M.; Rhijn, Adrian van; Hennekam, F. A. M.

doi:10.1111/j.1399-0004.1992.tb03675.x

Cited by 20 publications

(7 citation statements)

References 15 publications

(10 reference statements)

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“…Despite an approximately triple reduction in the number of cerebral neurons, individuals with mild microcephaly are capable of verbal communication, at the level of 5-year-old children or better (Lenneberg 1967; Trimborn and others 2005). Moreover, a number of studies describe microcephalics with normal intelligence (e.g., Chacon-Camacho and others 2015; Evans 1991; Hennekam and others 1992; Rizzo and Pavone 1995; Rossi and others 1987; Wilder 1911). 2 Some of these individuals graduated from high school.…”

Section: Language Production and Comprehensionmentioning

confidence: 99%

Neurons versus Networks: The Interplay between Individual Neurons and Neural Networks in Cognitive Functions

Arshavsky

2016

Neuroscientist

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The main paradigm of cognitive neuroscience is the connectionist concept postulating that the higher nervous activity is performed through interactions of neurons forming complex networks, whereas the function of individual neurons is restricted to generating electrical potentials and transmitting signals to other cells. In this article, I describe the observations from three fields-neurolinguistics, physiology of memory, and sensory perception-that can hardly be explained within the constraints of a purely connectionist concept. Rather, these examples suggest that cognitive functions are determined by specific properties of individual neurons and, therefore, are likely to be accomplished primarily at the intracellular level. This view is supported by the recent discovery that the brain's ability to create abstract concepts of particular individuals, animals, or places is performed by neurons ("concept cells") sparsely distributed in the medial temporal lobe.

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Section: Language Production and Comprehensionmentioning

confidence: 99%

Neurons versus Networks: The Interplay between Individual Neurons and Neural Networks in Cognitive Functions

Arshavsky

2016

Neuroscientist

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“…To date, only 20 families (including the present one) in whom microcephaly was transmitted as an auto-soma1 dominant trait have been reported (Hennekam et al 1992, Merlob et al 1988). There is considerable variation in the clinical phenotypic expression of autosomal dominant microcephaly: 1) slightly dysmorphic facies (six families); 2) short stature (three families); 3) mild mental retardation (four families); 4) seizure (three families); 5 ) congenital heart disease (three families); 6) lymphedema (two families) (Haslam & Smith 1979, Burton Akaboshi et al 1981, Rossi & Battilana 1982, Haslam 1982, Ramirez et al 1983, Leung 1985, Crowe & Dicke'rman 1986, Rossi et al 1987, Merlob et al 1988, Hennekam et al 1992. Neurological abnormalities such as clonus and hyperactivity were present only in two families, but there was no association with external hydrocephalus (Haslam & Smith 1979, Haslam 1982.…”

Section: Discussionmentioning

confidence: 84%

“…scribed four families with an autosomal dominant microcephaly, fewer than 20 families in whom microcephaly was transmitted as an autosomal dominant trait have been reported (Haslam & Smith 1979, Hennekam et al 1992. Neurological abnormalities including mild mental retardation, seizure, and hyperactivity are seen in some patients with autosomal dominant microcephaly (Haslam & Smith 1979, Burton 1981, Haslam 1982, Merlob et al 1988).…”

mentioning

confidence: 99%

Jumping translocation in a phenotypically normal female

Ballestrem

Boavida²,

Zuther

et al. 1996

Clinical Genetics

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“Jumping translocation” (jt) refers to a rare type of chromosome mosaic, in which the same portion of a (donor) chomosome is translocated to different (recipient) chromosome sites. It have mainly been observed in lymphocyte cultures of patients with hematologic malignancies. We report a phenotypically normal female carrying a mosaic of two cell lines with the Xq26‐qter segment translocated to the short arm of chromosomes 15 or 21 in peripheral blood lymphocytes. In skin fibroblasts, only the X/21 translocation was detected. We speculate that recombination between homologous repetitive sequences on non‐homologous human acrocentrics may be the cause of such chromosomal rearrangements.

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“…This type of microcephaly is accompanied by relatively moderate intellectual defi cit and the ability to communicate with languages at least at the level of a fi veyear-old child [Woods et al, 2005]. Moreover, microcephalics demonstrating practically normal intellect and language ability have been described [Evans, 1991;Hennekam et al, 1992;Ramirez et al, 1983;Rizzo and Pavone, 1995;Rossi et al, 1987]. Some of these individuals have graduated from high school and worked as a postman [Widler, 1911], bank employee [Rizzo and Pavone, 1995], a secretary [Rossi et al, 1987], a kindergarten teacher [Evans, 1991], and even a doctor [Ramirez et al, 1983].…”

Section: Discussionmentioning

confidence: 98%

Central Pattern Generators: Mechanisms of Operation and Their Role in Controlling Automatic Movements

Arshavsky

Deliagina

Orlovsky

2016

Neurosci Behav Physi

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Central pattern generators consist of sets of interconnected neurons able to generate a basic motor output pattern underlying automatic movements (respiration, locomotion, chewing, swallowing, etc.) without any afferent signals from the executive motor apparatus. They are divided into constitutive pattern generators, which are active throughout life (the respiratory generator), and conditional pattern generators, which control episodic movements (locomotion, chewing, swallowing, etc.). As the motor output of a pattern generator is defi ned by its internal organization, the activity of conditional pattern generators is initiated by a simple command arriving from the higher centers. The structural-functional organization of the locomotor pattern generators in the marine mollusk Clione, the lamprey, the frog embryo, and laboratory mammals (cats, mice, and rats) are described, along with pattern generators controlling respiratory and swallowing movements in mammals and pattern generators for discharges of the electric organs of gymnotiform fi sh. Generation of the rhythmic motor output is shown in all cases to be based on the endogenous (pacemaker) activity of specifi c groups of interneurons and interneural interactions. These two interacting mechanisms supplement each other, ensuring the reliable operation of pattern generators. The question of whether experience gained from studies of central pattern generators can be used for understanding the mechanisms of more complex brain functions, including cognitive functions, is discussed.

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Dominantly inherited microcephaly, short stature and normal intelligence

Cited by 20 publications

References 15 publications

Neurons versus Networks: The Interplay between Individual Neurons and Neural Networks in Cognitive Functions

Neurons versus Networks: The Interplay between Individual Neurons and Neural Networks in Cognitive Functions

Jumping translocation in a phenotypically normal female

Central Pattern Generators: Mechanisms of Operation and Their Role in Controlling Automatic Movements

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