Neurologic manifestations in 18q– syndrome

Miller, Geoffrey; Mowrey, Philip N.; Hopper, Kenneth D.; Frankel, Carl; Ladda, Roger L.

doi:10.1002/ajmg.1320370130

Cited by 69 publications

(75 citation statements)

References 10 publications

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“…Affected individuals have a broad spectrum of phenotypic findings [Cody et al, 1999] including dysmyelination of central nervous system (CNS) and mental retardation [Felding et al, 1987;Kline et al, 1993;Miller et al, 1990;Rodichock et al, 1992;Vogel et al, 1990]. Although 95% of all individuals with an 18q deletion have dysmyelination, 100% of the individuals with a deletion of a specific 2-megabase region of 18q have dysmyelination.…”

Section: Introductionmentioning

confidence: 99%

Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization

Kochunov¹,

Lancaster²,

Hardies³

et al. 2005

Human Brain Mapping

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Individuals with a constitutional chromosome abnormality consisting of a deletion of a portion of the long arm of chromosome 18 (18q-) have a high incidence ( approximately 95%) of dysmyelination. Neuroradiologic findings in affected children report a smaller corpus callosum, but this finding has not been quantified. This is in part due to the large intersubject variability of the corpus callosum size and shape and the small number of subjects with 18q-, which leads to low statistical power for comparison with typically developing children. An analysis method called targetless spatial normalization (TSN) was used to improve the sensitivity of statistical testing. TSN converges all images in a group into what is referred as group common space. The group common space conserves common shape, size, and orientation while reducing intragroup variability. TSN in conjunction with a Witelson vertical partitioning scheme was used to assess differences in corpus callosum size between 12 children with 18q- and 12 age-matched normal controls. Significant global and regional differences in corpus callosum size were seen. The 18q- group showed an overall smaller (25%) corpus callosum (P < 10(-7)), even after correction for differences in brain size. Regionally, the posterior portions of corpus callosum (posterior midbody, isthmus, and splenium), which contain heavily myelinated fibers, were found to be 25% smaller in the population with 18q-.

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Section: Introductionmentioning

confidence: 99%

Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization

Kochunov¹,

Lancaster²,

Hardies³

et al. 2005

Human Brain Mapping

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“…The 18qϪ phenotype is very variable, but among the most consistent features are mental retardation, short stature, mild dysmorphic facial features, foot deformities, and abnormal genitals in males (2,3). Reported neurologic findings include hypotonia, poor coordination, tremor, choreiform movements, oculomotor problems, seizures, and hearing impairment (4).…”

mentioning

confidence: 99%

18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted images

Linnankivi

Autti

Pihko

et al. 2003

Magnetic Resonance Imaging

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Purpose:To study brain MRI findings in patients with 18qϪ syndrome and to correlate these findings with the results of the molecular breakpoint analysis. Materials and Methods:Brain MR images of 17 patients with 18qϪ syndrome were evaluated. Segregation analysis was performed with 15 microsatellite markers to determine the deletion breakpoints and whether the deletion included the myelin basic protein (MBP) gene. Results:One patient had an interstitial deletion of 18q which spared the MBP gene. He was the only one with normal brain MRI. All 16 patients with deletions including the MBP gene had abnormal white matter in MRI. The main finding was poor differentiation of gray and white matter on T2-weighted images due to increased white matter signal intensity. In addition, measured signal intensity of the white matter was significantly increased in patients compared with controls. Conclusions:Poor differentiation of gray and white matter on T2-weighted images is the most typical MRI finding of the 18qϪ syndrome. These results support the postulation that abnormal myelination in 18qϪ syndrome is due to haploinsufficiency at or near the MBP locus.

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“…Cardiac anomalies are frequent, and a substantial minority of the patients also have epilepsy (2 (4). Other autonomic features, such as a pale or flushed face, changes in blood pressure, or sweating, can be prominent (5,6).…”

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confidence: 99%

Autonomic Seizures Versus Syncope in 18q‐ Deletion Syndrome: A Case Report

et al. 2000

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Summary: Purpose: The 18q‐ deletion syndrome (18qDS) is frequently associated with cardiac anomalies. Patients with this syndrome may also have epilepsy, which presents certain diagnostic difficulties. This case report aims to illustrate these diagnostic problems, document the usefulness of heart rate‐based seizure detection algorithms in this setting, and define the epilepsy syndrome associated with 18qDS. Methods: Closed‐circuit video electroencephalogram (EEG) monitoring using a heart rate–based seizure detection software was used to identify the event in question and to establish the diagnosis of epilepsy. Chromosomal analysis and magnetic resonance imaging (MRI) were used to further define the epilepsy syndrome. Results: We report on a patient with an atrial septal defect, enlargement of the right heart, and incomplete right bundle branch block, who developed episodes of tachycardia, loss of consciousness, and pallor, for which he was amnesic. Chromosomal analysis demonstrated karyotype 46, XY, del(18)(q21.3). ish del(18)(wcp18+, D18Z1+) with a loss of the gene for myelin basic protein. MRI revealed multifocal dysmyelination. Video‐EEG monitoring using an electrocardiogram (ECG)‐triggered seizure detection software proved to be indispensable in detecting an autonomic seizure and establishing the correct diagnosis; the procedure also allowed for the definition of the epilepsy syndrome. The patient was treated with carbamazepine and remained seizure‐free. Conclusions: Video‐EEG monitoring using a heart rate‐based seizure detection software can be helpful in diagnostically differentiating autonomic seizures from syncope. Dysmyelination due to loss of the myelin basic protein gene on 18q and cortical dysgenesis may be of pathogenic relevance.

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Neurologic manifestations in 18q– syndrome

Cited by 69 publications

References 10 publications

Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization

Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization

18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted images

Autonomic Seizures Versus Syncope in 18q‐ Deletion Syndrome: A Case Report

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