Autosomal‐recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose

Rizzo, Renata; Pavone, Lorenzo

doi:10.1002/ajmg.1320590405

Cited by 15 publications

(10 citation statements)

References 17 publications

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“…However, 22 participants and two siblings with different brain and other malformations were considered under the fourth group of non-specific. Subgroup analysis in this study revealed that participants with natural IMC had normal IQ, no epilepsy and a normal growth pattern, however, epilepsy has previously been reported in this group as well (Rizzo and Pavone 1995). Those with single (pure) IMC showed the highest mean of IQ values, the least prevalence of epilepsy or profound LD and normal growth pattern.…”

Section: Discussioncontrasting

confidence: 43%

“…Next, IMC was subclassified into three subgroups as follows: (1) natural MC, i.e. MC with normal intelligence and special facial features (Rizzo andPavone 1995, Abdel-Salam andCzeizel 2000); (2) MMC was also classified into three subgroups: MMC as part of well-known Mendelian syndromes; MMC as a part of unidentified multiple congenital abnormalities; MMC due to teratogens.…”

Section: Classification Of Participants With Microcephalymentioning

confidence: 99%

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Association of epilepsy with different groups of microcephaly

Abdel-Salam

Halász

Czeizel

2000

Develop Med Child Neuro

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Sixty‐six participants (33 males, 33 females) with microcephaly (MC), age range from 2 to 19 years old, were evaluated. MC was classified pathogenetically into isolated MC (IMC) and multiple MC (MMC) and classified etiologically into primary MC (PMC) and secondary MC (SMC). Both IMC and MMC were further classified. Overall prevalence of epilepsy was 40.9%. Furthermore, there was a significantly higher prevalence of epilepsy in males. Main seizure type was generalized tonic‐clonic seizures. Generally, learning disability (LD) was diagnosed in 93.9% and profound LD was evident in 43.9% of participants. There was an inverse correlation between severity of epilepsy and IQ but a positive correlation between severity of epilepsy and degree of LD. Differences in the success rate between monotherapy and polytherapy or response to antiepileptic drugs were not observed. Results suggest that epilepsy may be associated with the lower cognitive ability of the participants with microcephaly. The pathogenetic classification proposed is of value in delineating the prevalence of epilepsy and LD in the different varieties of MC as compared with the etiological classification.

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Section: Discussioncontrasting

confidence: 43%

Section: Classification Of Participants With Microcephalymentioning

confidence: 99%

Association of epilepsy with different groups of microcephaly

Abdel-Salam

Halász

Czeizel

2000

Develop Med Child Neuro

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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: 99%

“…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]. We believe that these facts suggest (if we remain within the framework of scientifi c knowledge and do not invoke Cartesian dualism) that human neurons are qualitatively different from neurons in animals and that linguistic, as well as other cognitive functions, are to a great extent performed at the intracellular level.…”

Section: Discussionmentioning

confidence: 99%

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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“…2 MCPH individuals present with normal intelligence or variable intellectual disability according to the grade of OFC reduction. 8,9 Several genes have been related to the MCPH after the result of the first report in 1998 by Jackson et al 9 showed that MCPH was mapping to chromosome 8p22pter. Eighteen OMIM genes have been related to MCPH and this number is likely to increase progressively in a short period of time.…”

Section: Introductionmentioning

confidence: 99%

Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis

et al. 2020

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This study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C > T (rs 199861426), p.Pro727. Leu; heterozygous; missense; variant of uncertain significance (class 3). At the age of 10 years, the twins started to have, in coincidental time, marked asthenia and episodes of emotiveness, and laboratory exams disclosed a high level of antithyroid peroxidase leading to the diagnosis of autoimmune juvenile thyroiditis with normal thyroid function. The novel heterozygous MCPH1 variant found in the twins may be directly or indirectly involved in the onset of the primary microcephaly. The thyroid disorder in the twins and its onset, in a coincidental time, confirmed the effect of genetic predisposition on the pathogenesis of the immune thyroiditis.

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Autosomal‐recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose

Cited by 15 publications

References 17 publications

Association of epilepsy with different groups of microcephaly

Association of epilepsy with different groups of microcephaly

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

Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis

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