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Dive into the research topics where Roberta Biancheri is active.

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Featured researches published by Roberta Biancheri.


Clinical Neurophysiology | 2001

Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors

Raffaele Manni; Lucia Politini; Lino Nobili; Franco Ferrillo; Chiara Livieri; Edvige Veneselli; Roberta Biancheri; Miriam Martinetti; A. Tartara

OBJECTIVEnExcessive daytime sleepiness is a common symptom in Prader Willi syndrome (PWs). Sleep disordered breathing (SDB) and narcoleptic traits such as REM sleep onsets (SOREMPs) have been reported in these subjects. We evaluated nighttime and daytime sleep patterns in patients with PWs in order to clarify the nature of their hypersomnia.nnnDESIGN AND METHODSnWe performed overnight continuous EEG-polysomnographic studies (with breathing monitoring included) in 14 subjects (6 M,8 F; mean age 17 years, range 8-37) affected by PWs unselected for sleep disturbances. Ten patients underwent a Multiple Sleep Latency Test (MSLT) the day following the nocturnal sleep studies. Patients assessment was completed by means of immunogenetic characterization.nnnRESULTSnNocturnal polysomnographic investigation documented sleep related breathing abnormalities such as central apneas, hypopneas or hypoventilation which mainly occurred during REM sleep in 8 subjects and did not cause sleep disruption. Only 4 subjects presented an increase in the Respiratory Disorder Index (RDI) slightly above the normal limits. In 8 subjects out of 10, with and without SDB, the mean daytime sleep latency could be considered abnormal according to the Tanner staging of pubertal development. Five patients showed at least two SOREMPs at MSLT. Subjects with and without SOREMPs had, respectively, a mean age of 18.6 SD 7.9 (4 M, 1 F) and 14.5 SD 2.9 (4 F, 1 M). The paternal deletion:uniparental dysomy ratio at genotypic characterization was 4:1 and 3.5:1 in subjects with and without SOREMPs, respectively. No patient presented DR-15 nor Dq-6.nnnCONCLUSIONSnExcessive sleepiness is a frequent disturbance in PWs. Subgroups of PW patients show hypersomnolence and SOREMPs. Sleep disordered breathing appears to have a limited role in the genesis of hypersomnia which not seems on the other hand attributable to the coexistence of narcolepsy phenotype. Hypersomnia in PW syndrome is likely to mainly be attributable to a primary hypothalamic dysfunction. The potential interacting role of other factors such as subjects age, sex and genetic pattern is suggested and deserve further investigation.


Human Mutation | 2009

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

Paola S. Denora; David Schlesinger; Carlo Casali; Fernando Kok; Alessandra Tessa; Amir Boukhris; Hamid Azzedine; Maria Teresa Dotti; Claudio Bruno; Jeremy Truchetto; Roberta Biancheri; Estelle Fedirko; Maja Di Rocco; Clarissa Bueno; Alessandro Malandrini; Roberta Battini; Elisabeth Sickl; Maria Fulvia de Leva; Odile Boespflug-Tanguy; Gabriella Silvestri; Alessandro Simonati; Edith Said; Andreas Ferbert; Chiara Criscuolo; Karl Heinimann; Anna Modoni; Peter Weber; Silvia Palmeri; Martina Plasilova; Flavia Pauri

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP‐TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP‐TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice‐site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing.


Medical and Pediatric Oncology | 1998

Effect of steroid and high-dose immunoglobulin therapy on opsoclonus-myoclonus syndrome occurring in neuroblastoma.

Edvige Veneselli; Massimo Conte; Roberta Biancheri; Antonio Acquaviva; Bruno De Bernardi

The authors describe a case of an 8-month-old boy with opsoclonus-myoclonus syndrome (OMS) and coincident unresectable neuroblastoma (NB). He achieved a complete remission for NB after 6 courses of standard-dose chemotherapy without significant neurological improvement despite the use of steroids and high-dose immunoglobulin (HIG), administered separately. Only the combined treatment withthese two drugs induced a complete disappearance of neurological symptoms. On the basis of this experience, the authors suggest the association of steroids plus HIG for the treatment of OMS in patients not responsive to conventional first line therapy with steroids.


Neurogenetics | 2006

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean

Natalia Cannelli; Denise Cassandrini; Enrico Bertini; Pasquale Striano; Lucia Fusco; Roberto Gaggero; Nicola Specchio; Roberta Biancheri; Federico Vigevano; Claudio Bruno; Alessandro Simonati; Federico Zara; Filippo M. Santorelli

Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive neurodegenerative disorders typically characterized by the accumulation of autofluorescent material in tissues. On the basis of clinical features, age at onset, and molecular genetic defects, it is possible to distinguish at least nine forms. The CLN8 form was first described in Finland, where all the patients are homozygous for a p.Arg24Gly mutation in CLN8. More recently, it has been found that a subset of a Turkish variant of late infantile NCL (v-LINCL) is also associated with CLN8 mutations. To identify the molecular defect in Italian patients with v-LINCL, the CLN8 gene was directly sequenced in 10 patients. Controls were screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Five fluorescent-labeled microsatellite markers covering 1xa0cM around the gene were used for haplotype analysis. In three Italian v-LINCL patients, identified in a small area in southern Italy, we detected four new mutations in CLN8: c.66delG (p.Gly22fs), c.88G>C (p.Ala30Pro), c.473A>G (p.Tyr158Cys), and c.581A>G (p.Gln194Arg). The single-base deletion was found in two unrelated patients. The novel missense mutations were not identified in ethnically matched control chromosomes. Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.


American Journal of Medical Genetics | 2004

Genetic Disorders Affecting White Matter in the Pediatric Age

Maja Di Rocco; Roberta Biancheri; Andrea Rossi; Mirella Filocamo; Paolo Tortori-Donati

Pediatric white matter disorders can be distinguished into well‐defined leukoencephalopathies, and undefined leukoencephalopathies. The first category may be subdivided into: (a) hypomyelinating disorders; (b) dysmyelinating disorders; (c) leukodystrophies; (d) disorders related to cystic degeneration of myelin; and (e) disorders secondary to axonal damage. The second category, representing up to 50% of leukoencephalopathies in childhood, requires a multidisciplinar approach in order to define novel homogeneous subgroups of patients, possibly representing “new genetic disorders” (such as megalencephalic leukoencepahlopathy with subcortical cysts and vanishing white matter disease that have recently been identified). In the majority of cases, pediatric white matter disorders are inherited diseases. An integrated description of the clinical, neuroimaging and pathophysiological features is crucial for categorizing myelin disorders and better understanding their genetic basis. A review of the genetic disorders affecting white matter in the pediatric age, including some novel entities, is provided.


American Journal of Neuroradiology | 2012

The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

P. Feraco; Marisol Mirabelli-Badenier; Mariasavina Severino; M.G. Alpigiani; M. Di Rocco; Roberta Biancheri; Andrea Rossi

SUMMARY: CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.


Pediatric Neurology | 2009

Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations

Alessandro Simonati; Alessandra Tessa; Bernardo Dalla Bernardina; Roberta Biancheri; Edvige Veneselli; Giulia Tozzi; Maria Bonsignore; Salvatore Grosso; Fiorella Piemonte; Filippo M. Santorelli

The neuronal ceroid lipofuscinoses are a heterogeneous group of inherited degenerative disorders of the central nervous system. Cases of ceroid lipofuscinosis with cytoplasmic storage of granular osmiophilic deposits are associated with reduced activity of palmitoyl-protein thioesterase-1 (PPT-1) and mutations in CLN1, and occur from infancy to adulthood. We present clinical and diagnostic investigations in six children with variant late infantile neuronal ceroid lipofuscinosis and mutations in CLN1. The main clinical features at onset were behavioral disturbances and cognitive decline. Myoclonic jerks constituted the most prominent paroxysmal phenomenon. An electroencephalogram revealed the vanishing pattern described in infantile ceroid lipofuscinosis. Neurologic regression was associated with dramatic shrinkage of cortical structures, evident upon brain magnetic resonance imaging. Three unrelated children harboring the same homozygous mutation in CLN1 and a girl who carried a novel mutation resulting in skipping of multiple exons presented with a similar clinical phenotype. The most severe picture occurred in two siblings who carried a homozygous mutation predicting a prematurely truncated protein. Similar to the infantile form, the clinical evolution in this group of patients was characterized by an onset of severe neurologic impairment, peaking within a relatively short period of time, followed by a slower evolution of the disease.


Clinical Genetics | 2008

Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications

Stefano Regis; Roberta Biancheri; Enrico Bertini; Alberto Burlina; Susanna Lualdi; M. G. Bianco; R. Devescovi; Andrea Rossi; Graziella Uziel; Mirella Filocamo

Pelizaeus–Merzbacher disease (PMD) is an X‐linked myelination disorder most frequently caused by duplication of a genomic segment of variable length containing the PLP1 gene. We studied five PMD male patients affected by the classic PMD form carrying a PLP1 gene duplication. On the basis of clinical and neuroradiological features, two of the five patients appeared to be the most severely affected. In order to establish a possible genotype–phenotype correlation, the extent of the duplication was determined in each patient and in the respective mother by quantifying the copy number of genomic markers surrounding the PLP1 gene by a real‐time PCR‐based approach. Duplications, ranging in size from 167–195 to 580–700u2003kb, were in the same genomic interval of the majority of the reported duplications. The extent of the duplicated genomic segments does not correlate with the clinical severity. Interestingly enough, each duplication had one of the two breakpoints in or near to low copy repeats (LCRs), supporting recent evidence concerning a possible role of LCRs in the generation of the duplications in PMD.


Epilepsy & Behavior | 2007

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

Pasquale Striano; Nicola Specchio; Roberta Biancheri; Natalia Cannelli; Alessandro Simonati; Denise Cassandrini; Andrea Rossi; Claudio Bruno; Lucia Fusco; Roberto Gaggero; Federico Vigevano; Enrico Bertini; Federico Zara; Filippo M. Santorelli; Salvatore Striano

Neuronal ceroid lipofuscinoses (NCLs) are characterized by epilepsy, visual failure, psychomotor deterioration, and accumulation of autofluorescent lipopigment. CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL. We describe the clinical and neurophysiological findings of three patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6 years of age, with myoclonic, tonic-clonic, and atypical absence seizures. Electroencephalograms revealed focal and/or generalized abnormalities. In all cases, blindness and progressive attenuation of the electroretinogram were observed. Magnetic resonance imaging revealed cerebral and cerebellar atrophy, thinning of the corpus callosum, deep white matter hyperintensity, and hyperintensity of the posterior limb of internal capsules. Skin biopsy revealed lysosomal storage in the cytoplasm of fibroblasts. The clinical picture of our cases resembles that of the Turkish patients and clearly differs from that of Northern epilepsy, which is marked by a prolonged course without myoclonus and visual loss. Definition of the clinical spectrum of this condition will aid in its recognition and have implications for diagnosis and genetic counseling.


European Journal of Pediatrics | 2010

Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q

Piero Pavone; Martino Ruggieri; Ilaria Lombardo; Jyotsna Sudi; Roberta Biancheri; Danilo Castellano-Chiodo; Andrea Rossi; Gemma Incorpora; Norma J. Nowak; Susan L. Christian; Lorenzo Pavone; William B. Dobyns

Currarino syndrome (CS) is a peculiar form of caudal regression syndrome [also known as autosomal dominant sacral agenesis (OMIM no. 176450)] characterised by (1) partial absence of the sacrum with intact first sacral vertebra, (2) a pre-sacral mass and (3) anorectal anomalies (Currarino triad). We studied a 3-year-old girl with Currarino triad who had additional systemic features and performed array comparative genomic hybridisation to look for chromosomal abnormalities. This girl had the typical spectrum of anomalies of the CS including (a) partial sacral agenesis (hemisacrum with remnants of only sacral S1–S2 vertebrae and a residual S3 vertebral body) associated with complete coccygeal agenesis, (b) pre-intrasacral dermoid, (c) intra-dural lipoma, (d) ectopic anus and (e) tethered cord. She had, in addition, pre- and post-natal growth impairment (<3rd percentile), severe microcephaly (<−3 SD) with normal gyration pattern and lack of cortical thickening associated with a hypoplastic inferior vermis, facial dysmorphism, sensorineural deafness and decreased serum levels of IGF-1. A de novo 10.3-Mb duplication of 7q34–q35 and an 8.8-Mb deletion on 7q36 were identified in this patient. The Homeobox HLXB9 (CS) gene is contained within the deletion accounting for the CS phenotype including microcephaly. The spectrums of associated abnormalities in the IGF-1 deficiency growth retardation with sensorineural deafness and mental retardation syndrome (OMIM no. 608747) are discussed. To the best of our knowledge, this is the first reported case of a patient with distal 7q chromosomal imbalance and features of CS triad (including microcephaly) and the first documented case of a patient with normal gyration pattern microcephaly. The spectrum of associated anomalies in this newly recognised phenotype complex consists of growth failure, typical facial anomalies with additional (previously unreported) nervous system abnormalities (e.g. sensorineural deafness) and somatomedin C deficiency.

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Claudio Bruno

Istituto Giannina Gaslini

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Carlo Minetti

Albert Einstein College of Medicine

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M. Di Rocco

Istituto Giannina Gaslini

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