The Experts below are selected from a list of 327 Experts worldwide ranked by ideXlab platform
Maria Paola Canevini - One of the best experts on this subject based on the ideXlab platform.
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sleep in ring chromosome 20 syndrome a peculiar electroencephalographic pattern
Functional Neurology, 2013Co-Authors: Elena Zambrelli, Aglaia Vignoli, Lino Nobili, Giuseppe Didato, Massimo Mastrangelo, Katherine Turner, Maria Paola CaneviniAbstract:Ring chromosome 20 [r(20)] syndrome is a Chromosomal Disorder characterized by epilepsy and intellectual disability. Distinctive electroclinical features and wakefulness EEG patterns have been described. The EEG features of sleep have not yet been evaluated. We studied the pattern of sleep in six patients aged 2-59 years who underwent at least one polysomnographic recording. Their sleep pattern evolution is described as deterioration ranging from normal to destructured NREM/REM sleep. NREM sleep alterations were observed from childhood and were more evident in adulthood. EEG abnormalities detected during wakefulness persisted, with morphological changes, during sleep. During NREM sleep all the subjects presented high amplitude delta sequences with a sharply contoured or notched appearance, prevalent over frontal regions. The theta rhythm of wakefulness was seen to persist during REM sleep. Ring chromosome 20 syndrome shows sleep alterations that seem to be age-related. A potential role of cortical and thalamocortical dysfunction is discussed.
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ring chromosome 20 syndrome a link between epilepsy onset and neuropsychological impairment in three children
Epilepsia, 2009Co-Authors: Aglaia Vignoli, Maria Paola Canevini, A Piazzini, Francesca Darra, Lorita La Selva, Elena Fiorini, Francesca Lazzarotto, Claudio Zucca, Bernardo Dalla BernardinaAbstract:Summary Purpose: Ring chromosome 20 [r(20)] syndrome is a well-defined Chromosomal Disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant. Methods: We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. Results: As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. Conclusion: This clinical picture can be described as abrupt epileptic encephalopathy.
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chromosome 20 ring a Chromosomal Disorder associated with a particular electroclinical pattern
Epilepsia, 1998Co-Authors: Maria Paola Canevini, Aglaia Vignoli, V Sgro, Orsetta Zuffardi, R Canger, Romeo Carrozzo, Elena Rossi, David H Ledbetter, Fabio Minicucci, A PiazziniAbstract:Summary: Purpose: The chromosome 20 ring [r(20)] is a rare Chromosomal Disorder without clear phenotypical markers. We describe the electroclinical pattern in a group of patients with r(20). Methods: We observed 3 patients (a boy, patient 1; his mother, patient 2; and an unrelated man, patient 3), performing prolonged video-EEG and cytogenetic studies and fluorescent in situ hybridization (FISH) with chromosome-specific telomeric probes. Results: All 3 patients had a very similar abnormal electroclinical pattern characterized by long bursts or trains of rhythmic theta waves, which were sharply contoured or had a notched appearance (with no detectable clinical correlate), and generalized spike waves (SW) associated with seizures of probable frontotemporal origin (SFT). In all 3 patients, the cytogenetic analysis of T lymphocytes showed mosaicism with a normal cell line and a second cell line with a chromosome 20, although the latter was little represented in patients 2 and 3. A few cells with a single chromosome 20 were also found. The same cytogenetic findings were confirmed in the lymphoblastoid cell line of patient 1 and in the fibroblasts of patient 3. FISH with chromosome-specific telomeric probes and TTAGGG sequences demonstrated the integrity of the ring chromosomes. Conclusions: The clinical picture of these patients appears to be related to the instability of the r(20)-generating cells monosomic for chromosome 20 and is thus haploinsufficient for a gene. In these patients, the electroclinical pattern of theta waves (probably unrelated to epilepsy) and the SW and SFT, even with mild mental retardation (MR) or no MR and without dysmorphic features, suggest that the r(20) syndrome may be present.
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4p syndrome a Chromosomal Disorder associated with a particular eeg pattern
Epilepsia, 1995Co-Authors: V Sgro, Maria Paola Canevini, R Canger, Enrica Riva, V Colamaria, A Rottoli, Lorella Minotti, Bernardo Dalla BernardinaAbstract:We report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited by eye closure; burst of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to the one described in Angelman syndrome (AS) in which a defect in GABAA receptor function has been suggested. Moreover, the genes encoding the GABAA receptor subunit have been mapped to the p12-p13 bands of chromosome 4. Even though the deletion in these cases does not encompass the 4p12-p13 region, we suggest that the electroclinical picture common to WHS and AS might represent a characteristic type of epilepsy linked to a common genetic abnormality.
Bernardo Dalla Bernardina - One of the best experts on this subject based on the ideXlab platform.
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ring chromosome 20 syndrome a link between epilepsy onset and neuropsychological impairment in three children
Epilepsia, 2009Co-Authors: Aglaia Vignoli, Maria Paola Canevini, A Piazzini, Francesca Darra, Lorita La Selva, Elena Fiorini, Francesca Lazzarotto, Claudio Zucca, Bernardo Dalla BernardinaAbstract:Summary Purpose: Ring chromosome 20 [r(20)] syndrome is a well-defined Chromosomal Disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant. Methods: We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. Results: As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. Conclusion: This clinical picture can be described as abrupt epileptic encephalopathy.
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4p syndrome a Chromosomal Disorder associated with a particular eeg pattern
Epilepsia, 1995Co-Authors: V Sgro, Maria Paola Canevini, R Canger, Enrica Riva, V Colamaria, A Rottoli, Lorella Minotti, Bernardo Dalla BernardinaAbstract:We report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited by eye closure; burst of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to the one described in Angelman syndrome (AS) in which a defect in GABAA receptor function has been suggested. Moreover, the genes encoding the GABAA receptor subunit have been mapped to the p12-p13 bands of chromosome 4. Even though the deletion in these cases does not encompass the 4p12-p13 region, we suggest that the electroclinical picture common to WHS and AS might represent a characteristic type of epilepsy linked to a common genetic abnormality.
Aglaia Vignoli - One of the best experts on this subject based on the ideXlab platform.
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sleep in ring chromosome 20 syndrome a peculiar electroencephalographic pattern
Functional Neurology, 2013Co-Authors: Elena Zambrelli, Aglaia Vignoli, Lino Nobili, Giuseppe Didato, Massimo Mastrangelo, Katherine Turner, Maria Paola CaneviniAbstract:Ring chromosome 20 [r(20)] syndrome is a Chromosomal Disorder characterized by epilepsy and intellectual disability. Distinctive electroclinical features and wakefulness EEG patterns have been described. The EEG features of sleep have not yet been evaluated. We studied the pattern of sleep in six patients aged 2-59 years who underwent at least one polysomnographic recording. Their sleep pattern evolution is described as deterioration ranging from normal to destructured NREM/REM sleep. NREM sleep alterations were observed from childhood and were more evident in adulthood. EEG abnormalities detected during wakefulness persisted, with morphological changes, during sleep. During NREM sleep all the subjects presented high amplitude delta sequences with a sharply contoured or notched appearance, prevalent over frontal regions. The theta rhythm of wakefulness was seen to persist during REM sleep. Ring chromosome 20 syndrome shows sleep alterations that seem to be age-related. A potential role of cortical and thalamocortical dysfunction is discussed.
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genetic investigations on 8 patients affected by ring 20 chromosome syndrome
BMC Medical Genetics, 2010Co-Authors: Daniela Giardino, Aglaia Vignoli, Lucia Ballarati, Maria Paola Recalcati, Silvia Russo, Nicole Camporeale, Margherita Marchi, Palma Finelli, Patrizia Accorsi, Lucio GiordanoAbstract:Background Mosaic Chromosome 20 ring [r(20)] is a Chromosomal Disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic mechanism underlying seizures Disorders in r(20) syndrome is still unknown. We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome.
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ring chromosome 20 syndrome a link between epilepsy onset and neuropsychological impairment in three children
Epilepsia, 2009Co-Authors: Aglaia Vignoli, Maria Paola Canevini, A Piazzini, Francesca Darra, Lorita La Selva, Elena Fiorini, Francesca Lazzarotto, Claudio Zucca, Bernardo Dalla BernardinaAbstract:Summary Purpose: Ring chromosome 20 [r(20)] syndrome is a well-defined Chromosomal Disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant. Methods: We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. Results: As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. Conclusion: This clinical picture can be described as abrupt epileptic encephalopathy.
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chromosome 20 ring a Chromosomal Disorder associated with a particular electroclinical pattern
Epilepsia, 1998Co-Authors: Maria Paola Canevini, Aglaia Vignoli, V Sgro, Orsetta Zuffardi, R Canger, Romeo Carrozzo, Elena Rossi, David H Ledbetter, Fabio Minicucci, A PiazziniAbstract:Summary: Purpose: The chromosome 20 ring [r(20)] is a rare Chromosomal Disorder without clear phenotypical markers. We describe the electroclinical pattern in a group of patients with r(20). Methods: We observed 3 patients (a boy, patient 1; his mother, patient 2; and an unrelated man, patient 3), performing prolonged video-EEG and cytogenetic studies and fluorescent in situ hybridization (FISH) with chromosome-specific telomeric probes. Results: All 3 patients had a very similar abnormal electroclinical pattern characterized by long bursts or trains of rhythmic theta waves, which were sharply contoured or had a notched appearance (with no detectable clinical correlate), and generalized spike waves (SW) associated with seizures of probable frontotemporal origin (SFT). In all 3 patients, the cytogenetic analysis of T lymphocytes showed mosaicism with a normal cell line and a second cell line with a chromosome 20, although the latter was little represented in patients 2 and 3. A few cells with a single chromosome 20 were also found. The same cytogenetic findings were confirmed in the lymphoblastoid cell line of patient 1 and in the fibroblasts of patient 3. FISH with chromosome-specific telomeric probes and TTAGGG sequences demonstrated the integrity of the ring chromosomes. Conclusions: The clinical picture of these patients appears to be related to the instability of the r(20)-generating cells monosomic for chromosome 20 and is thus haploinsufficient for a gene. In these patients, the electroclinical pattern of theta waves (probably unrelated to epilepsy) and the SW and SFT, even with mild mental retardation (MR) or no MR and without dysmorphic features, suggest that the r(20) syndrome may be present.
A Piazzini - One of the best experts on this subject based on the ideXlab platform.
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ring chromosome 20 syndrome a link between epilepsy onset and neuropsychological impairment in three children
Epilepsia, 2009Co-Authors: Aglaia Vignoli, Maria Paola Canevini, A Piazzini, Francesca Darra, Lorita La Selva, Elena Fiorini, Francesca Lazzarotto, Claudio Zucca, Bernardo Dalla BernardinaAbstract:Summary Purpose: Ring chromosome 20 [r(20)] syndrome is a well-defined Chromosomal Disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant. Methods: We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. Results: As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. Conclusion: This clinical picture can be described as abrupt epileptic encephalopathy.
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chromosome 20 ring a Chromosomal Disorder associated with a particular electroclinical pattern
Epilepsia, 1998Co-Authors: Maria Paola Canevini, Aglaia Vignoli, V Sgro, Orsetta Zuffardi, R Canger, Romeo Carrozzo, Elena Rossi, David H Ledbetter, Fabio Minicucci, A PiazziniAbstract:Summary: Purpose: The chromosome 20 ring [r(20)] is a rare Chromosomal Disorder without clear phenotypical markers. We describe the electroclinical pattern in a group of patients with r(20). Methods: We observed 3 patients (a boy, patient 1; his mother, patient 2; and an unrelated man, patient 3), performing prolonged video-EEG and cytogenetic studies and fluorescent in situ hybridization (FISH) with chromosome-specific telomeric probes. Results: All 3 patients had a very similar abnormal electroclinical pattern characterized by long bursts or trains of rhythmic theta waves, which were sharply contoured or had a notched appearance (with no detectable clinical correlate), and generalized spike waves (SW) associated with seizures of probable frontotemporal origin (SFT). In all 3 patients, the cytogenetic analysis of T lymphocytes showed mosaicism with a normal cell line and a second cell line with a chromosome 20, although the latter was little represented in patients 2 and 3. A few cells with a single chromosome 20 were also found. The same cytogenetic findings were confirmed in the lymphoblastoid cell line of patient 1 and in the fibroblasts of patient 3. FISH with chromosome-specific telomeric probes and TTAGGG sequences demonstrated the integrity of the ring chromosomes. Conclusions: The clinical picture of these patients appears to be related to the instability of the r(20)-generating cells monosomic for chromosome 20 and is thus haploinsufficient for a gene. In these patients, the electroclinical pattern of theta waves (probably unrelated to epilepsy) and the SW and SFT, even with mild mental retardation (MR) or no MR and without dysmorphic features, suggest that the r(20) syndrome may be present.
Karteek Popuri - One of the best experts on this subject based on the ideXlab platform.
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substantially thinner internal granular layer and reduced molecular layer surface in the cerebellar cortex of the tc1 mouse model of down syndrome a comprehensive morphometric analysis with active staining contrast enhanced mri
NeuroImage, 2020Co-Authors: Manuel Jorge Cardoso, Maria A Zuluaga, Marc Modat, Nick M Powell, Frances K Wiseman, Jon O Cleary, Benjamin Sinclair, Ian F Harrison, Bernard Siow, Karteek PopuriAbstract:Down Syndrome is a Chromosomal Disorder that affects the development of cerebellar cortical lobules. Impaired neurogenesis in the cerebellum varies among different types of neuronal cells and neuronal layers. In this study, we developed an imaging analysis framework that utilizes gadolinium-enhanced ex vivo mouse brain MRI. We extracted the middle Purkinje layer of the mouse cerebellar cortex, enabling the estimation of the volume, thickness, and surface area of the entire cerebellar cortex, the internal granular layer, and the molecular layer in the Tc1 mouse model of Down Syndrome. The morphometric analysis of our method revealed that a larger proportion of the cerebellar thinning in this model of Down Syndrome resided in the inner granule cell layer, while a larger proportion of the surface area shrinkage was in the molecular layer.