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Article ; Online: Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.

Nicita, Francesco / Aiello, Chiara / Carboni, Alessia / Longo, Daniela / Bertini, Enrico / Travaglini, Lorena

2022 Volume 225, Page(s) 107584

Abstract: Dominant COL4A1 and COL4A2 mutations cause a broad spectrum of cerebrovascular diseases, whose onset varies from fetal to adult life, mostly represented by prenatal-neonatal intracerebral hemorrhage with porencephaly and by periventricular leukomalacia ... ...

Abstract	Dominant COL4A1 and COL4A2 mutations cause a broad spectrum of cerebrovascular diseases, whose onset varies from fetal to adult life, mostly represented by prenatal-neonatal intracerebral hemorrhage with porencephaly and by periventricular leukomalacia with calcifications, corresponding clinical diagnoses of cerebral palsy mimics. Axenfeld-Rieger syndrome with leukoencephalopathy, HANAC syndrome, young- and late-onset stroke and malformation of cortical development are rarer presentations. Very recently, the existence of recessive COL4A1- and COL4A2-related forms has been documented. We broaden the phenotypic and genotypic spectra of COL4A2-related disease by describing this second family with recessive pathogenic variants and neuroimaging phenotype of leukoencephalopathy with spot-like calcifications.
MeSH term(s)	Pregnancy ; Female ; Humans ; Collagen Type IV/genetics ; Leukoencephalopathies/diagnostic imaging ; Leukoencephalopathies/genetics ; Cerebral Hemorrhage/diagnosis ; Stroke/genetics ; Porencephaly/diagnosis ; Porencephaly/genetics ; Cerebrovascular Disorders ; Mutation/genetics
Chemical Substances	Collagen Type IV ; COL4A2 protein, human
Language	English
Publishing date	2022-12-31
Publishing country	Netherlands
Document type	Case Reports
ZDB-ID	193107-6
ISSN	1872-6968 ; 0303-8467
ISSN (online)	1872-6968
ISSN	0303-8467
DOI	10.1016/j.clineuro.2022.107584
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Article ; Online: Type I Interferon Signature in NOTCH1-Related Leukoencephalopathy.

Nicita, Francesco / Travaglini, Lorena / Matteo, Valentina / Aiello, Chiara / Longo, Daniela / Insalaco, Antonella / Bertini, Enrico / Prencipe, Giusi

Annals of neurology

2023 Volume 93, Issue 5, Page(s) 1041–1043

MeSH term(s)	Humans ; Leukoencephalopathies/genetics ; Signal Transduction ; Interferon Type I ; Receptor, Notch1/genetics
Chemical Substances	Interferon Type I ; Receptor, Notch1 ; NOTCH1 protein, human
Language	English
Publishing date	2023-03-21
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.26631
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Article: Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease.

Romano, Carmela / Morena, Emanuele / Petrucci, Simona / Diamant, Selene / Marconi, Martina / Travaglini, Lorena / Zanni, Ginevra / Piane, Maria / Salvetti, Marco / Romano, Silvia / Ristori, Giovanni

Frontiers in neurology

2024 Volume 15, Page(s) 1362013

Abstract: Alexander disease (AxD) is a rare inherited autosomal dominant (AD) disease with different clinical phenotypes according to the age of onset. It is caused by mutations in the glial fibrillary acid protein (GFAP) gene, which causes GFAP accumulation in ... ...

Abstract	Alexander disease (AxD) is a rare inherited autosomal dominant (AD) disease with different clinical phenotypes according to the age of onset. It is caused by mutations in the glial fibrillary acid protein (GFAP) gene, which causes GFAP accumulation in astrocytes. A wide spectrum of mutations has been described. For some variants, genotype-phenotype correlations have been described, although variable expressivity has also been reported in late-onset cases among members of the same family. We present the case of a 19-year-old girl who developed gait ataxia and subtle involuntary movements, preceded by a history of enuresis and severe scoliosis. Her mother has been affected by ataxia since her childhood, which was then complicated by pyramidal signs and heavily worsened through the years. Beyond her mother, no other known relatives suffered from neurologic syndromes. The scenario was further complicated by a complex brain and spinal cord magnetic resonance imaging (MRI) pattern in both mother and daughter. However, the similar clinical phenotype made an inherited cause highly probable. Both AD and autosomal recessive (AR) ataxic syndromes were considered, lacking a part of the proband's pedigree, but no causative genetic alterations were found. Considering the strong suspicion for an inherited condition, we performed clinical exome sequencing (CES), which analyzes more than 4,500 genes associated with diseases. CES evidenced the new heterozygous missense variant c.260 T > A in exon 1 of the glial fibrillary acidic protein (GFAP) gene (NM_002055.4), which causes the valine to aspartate amino acid substitution at codon 87 (p. Val87Asp) in the GFAP. The same heterozygous variant was detected in her mother. This mutation has never been described before in the literature. This case should raise awareness for this rare and under-recognized disease in juvenile-adult cases.
Language	English
Publishing date	2024-03-20
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2024.1362013
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Article ; Online: CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report.

Romozzi, Marina / Primiano, Guido / Rollo, Eleonora / Travaglini, Lorena / Calabresi, Paolo / Servidei, Serenella / Vollono, Catello

The journal of headache and pain

2021 Volume 22, Issue 1, Page(s) 85

Abstract: Background and aims: Hemiplegic migraine (HM) is a rare form of migraine characterized by the presence of a motor and other types of aura. HM can be sporadic or familial. Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, classified ... ...

Abstract	Background and aims: Hemiplegic migraine (HM) is a rare form of migraine characterized by the presence of a motor and other types of aura. HM can be sporadic or familial. Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, classified into 3 subtypes, based on the gene involved (CACNA1A in FHM1, ATP1A2 in FHM2 and SCN1A in FHM3). The clinical presentation is highly heterogeneous and some attacks may be severe. We report the clinical characteristics and genetic analysis of 12 patients belonging to a family with CACNA1A-p.Thr501Met gene mutation. Methods: We screened for mutations in CACNA1A gene 15 patients belonging to the same family. The exonic sequences of CACNA1A were analyzed using a Tru-seq® Custom Amplicon (TSCA) (Illumina Inc., San Diego, CA) targeted capture and paired end library kit. Sanger sequencing was used to confirm CACNA1A variants and segregation analysis. Results: CACNA1A-p.Thr501Met mutation was found in 12 of the 15 patients screened, which was compatible with the diagnosis of FHM1. Attacks of hemiplegic migraine were reported by 10 of the 12 subjects (83.33%). Only one subject developed persistent mild cerebellar symptoms and none of the subjects developed cerebellar atrophy. Discussion: The variant p.Thr501Met was described previously in association with episodic ataxia and rarely with FHM related to cerebellar symptoms. FHM1 has a broad clinical spectrum and about half of the families have cerebellar involvement. In our study, only one patient developed persistent cerebellar deficits. These data suggest that CACNA1A-p.Thr501Met mutation can occur prevalently as hemiplegic migraine.
MeSH term(s)	Ataxia ; Calcium Channels/genetics ; Humans ; Migraine Disorders/complications ; Migraine Disorders/genetics ; Migraine with Aura/complications ; Migraine with Aura/genetics ; Mutation
Chemical Substances	CACNA1A protein, human ; Calcium Channels
Language	English
Publishing date	2021-07-28
Publishing country	England
Document type	Journal Article
ZDB-ID	2036768-5
ISSN	1129-2377 ; 1129-2369
ISSN (online)	1129-2377
ISSN	1129-2369
DOI	10.1186/s10194-021-01297-5
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Article ; Online: Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene.

Caputi, Caterina / Federici, Giulia / Soddu, Silvia / Travaglini, Lorena / Piane, Maria / Bertini, Enrico / Zanni, Ginevra / Leuzzi, Vincenzo

Movement disorders clinical practice

2022 Volume 10, Issue 1, Page(s) 124–129

Abstract: Background: Ataxia-telangiectasia (A-T) is a progressive multisystemic neurodegenerative disease. The phenotypic spectrum includes conditions (variant A-T) with mild, late-onset, and atypical clinical presentations characterized by the prevalence of ... ...

Abstract	Background: Ataxia-telangiectasia (A-T) is a progressive multisystemic neurodegenerative disease. The phenotypic spectrum includes conditions (variant A-T) with mild, late-onset, and atypical clinical presentations characterized by the prevalence of dyskinetic rather than ataxic features. Cases: We describe the clinical presentations of 3 siblings with early-onset truncal ataxia without obvious neurological deterioration or biological markers of classic A-T phenotype. We performed functional and genetic evaluation of 3 siblings with very mild neurological phenotype. Genetic evaluation with a next-generation sequencing panel for genes causative of cerebellar ataxia detected 2 known ATM gene variants, missense c.9023G>A p.(Arg3008His), and leaky splicing c.1066-6T>G variants. Functional studies showed mildly reduced ATM expression and residual kinase activity in the probands compared with healthy controls. Conclusions: These results suggest the importance of investigating ATM variants even in the presence of clinical and biological atypical cases to ensure specific therapeutic regimens and oncological surveillance in these patients.
Language	English
Publishing date	2022-12-10
Publishing country	United States
Document type	Case Reports
ISSN	2330-1619
ISSN (online)	2330-1619
DOI	10.1002/mdc3.13618
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Article ; Online: Spectrum of

Sartorelli, Jacopo / Travaglini, Lorena / Macchiaiolo, Marina / Garone, Giacomo / Gonfiantini, Michaela Veronika / Vecchio, Davide / Sinibaldi, Lorenzo / Frascarelli, Flaminia / Ceccatelli, Viola / Petrillo, Sara / Piemonte, Fiorella / Piccolo, Gabriele / Novelli, Antonio / Longo, Daniela / Pro, Stefano / D'Amico, Adele / Bertini, Enrico Silvio / Nicita, Francesco

Genes

2024 Volume 15, Issue 4

Abstract: 1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without a clear genotype-phenotype correlation for both the two causative ... ...

Abstract	(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without a clear genotype-phenotype correlation for both the two causative genes
MeSH term(s)	Humans ; Cockayne Syndrome/genetics ; Cockayne Syndrome/pathology ; Cockayne Syndrome/diagnosis ; Poly-ADP-Ribose Binding Proteins/genetics ; DNA Repair Enzymes/genetics ; Female ; Male ; DNA Helicases/genetics ; Child ; Child, Preschool ; Adolescent ; Retrospective Studies ; Adult ; Infant ; Genetic Association Studies ; Young Adult ; Transcription Factors
Chemical Substances	ERCC6 protein, human (EC 3.6.4.12) ; Poly-ADP-Ribose Binding Proteins ; DNA Repair Enzymes (EC 6.5.1.-) ; DNA Helicases (EC 3.6.4.-) ; ERCC8 protein, human ; Transcription Factors
Language	English
Publishing date	2024-04-18
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes15040508
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Article: Novel

Nicita, Francesco / Travaglini, Lorena / Bombelli, Francesco / Tosi, Michele / Pro, Stefano / Bertini, Enrico / D'Amico, Adele

Neurology. Genetics

2021 Volume 8, Issue 2, Page(s) e661

Abstract: Objectives: To report a novel association between pathogenic variants in the : Methods: Clinical exome sequencing was performed in an adult patient with a genetically unsolved neurodegenerative disorder. The main clinical, neuroimaging, and genetic ... ...

Abstract	Objectives: To report a novel association between pathogenic variants in the Methods: Clinical exome sequencing was performed in an adult patient with a genetically unsolved neurodegenerative disorder. The main clinical, neuroimaging, and genetic data were described. Results: The c.865C > T (p.P289S) and c.1297T > C (p.Y433H) missense variants in Discussion: This case represents a novel form of early-onset pyramidal syndrome with optic nerve hypoplasia, which slowly evolved to extrapyramidal syndrome featuring dystonia-parkinsonism, associated with TCC, caused by
Language	English
Publishing date	2021-03-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	2818607-2
ISSN	2376-7839
ISSN	2376-7839
DOI	10.1212/NXG.0000000000000661
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Article ; Online: Superior Cerebellar Atrophy: An Imaging Clue to Diagnose

Romaniello, Romina / Pasca, Ludovica / Panzeri, Elena / D'Abrusco, Fulvio / Travaglini, Lorena / Serpieri, Valentina / Signorini, Sabrina / Aiello, Chiara / Bertini, Enrico / Bassi, Maria Teresa / Valente, Enza Maria / Zanni, Ginevra / Borgatti, Renato / Arrigoni, Filippo

International journal of molecular sciences

2022 Volume 23, Issue 12

Abstract: The inositol 1,4,5-triphosphate receptor type 1 ( ...

Abstract	The inositol 1,4,5-triphosphate receptor type 1 (
MeSH term(s)	Adult ; Atrophy ; Cerebellum/abnormalities ; Developmental Disabilities ; Humans ; Inositol ; Inositol 1,4,5-Trisphosphate Receptors/genetics ; Nervous System Malformations ; Pedigree ; Spinocerebellar Ataxias ; Spinocerebellar Degenerations
Chemical Substances	ITPR1 protein, human ; Inositol 1,4,5-Trisphosphate Receptors ; Inositol (4L6452S749)
Language	English
Publishing date	2022-06-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms23126723
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Article ; Online: Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study.

Costanzo, Floriana / Zanni, Ginevra / Fucà, Elisa / Di Paola, Margherita / Barresi, Sabina / Travaglini, Lorena / Colafati, Giovanna Stefania / Gambardella, Antonio / Bellacchio, Emanuele / Bertini, Enrico / Menghini, Deny / Vicari, Stefano

International journal of environmental research and public health

2022 Volume 19, Issue 3

Abstract: Cerebellar agenesis is an extremely rare condition characterized by a near complete absence of the cerebellum. The pathogenesis and molecular basis remain mostly unknown. We report the neuroradiological, molecular, neuropsychological and behavioral ... ...

Abstract	Cerebellar agenesis is an extremely rare condition characterized by a near complete absence of the cerebellum. The pathogenesis and molecular basis remain mostly unknown. We report the neuroradiological, molecular, neuropsychological and behavioral characterization of a 5-year-old girl, with cerebellar agenesis associated with parietal and peri-Sylvian polymicrogyria, followed-up for 10 years at four time points. Whole exome sequencing identified two rare variants in
MeSH term(s)	Cerebellum/diagnostic imaging ; Child, Preschool ; Cognition ; Cognition Disorders/etiology ; Female ; Humans ; Membrane Proteins/genetics ; Memory ; Neuropsychological Tests ; Tumor Suppressor Proteins
Chemical Substances	CSMD1 protein, human ; Membrane Proteins ; Tumor Suppressor Proteins
Language	English
Publishing date	2022-01-22
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	2175195-X
ISSN	1660-4601 ; 1661-7827
ISSN (online)	1660-4601
ISSN	1661-7827
DOI	10.3390/ijerph19031224
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Article ; Online: Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.

Ghirardo, Sergio / Sabatini, Letizia / Onofri, Alessandro / Testa, Maria Beatrice Chiarini / Paglietti, Maria Giovanna / Diodato, Daria / Travaglini, Lorena / Stregapede, Fabrizia / Ciofi Degli Atti, Marta Luisa / Cherchi, Claudio / Cutrera, Renato

Italian journal of pediatrics

2022 Volume 48, Issue 1, Page(s) 167

Abstract: Background: Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking.: Case presentation: We report the case of a 20-month-old female ... ...

Abstract	Background: Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. Case presentation: We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements. Conclusions: Thus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case.
MeSH term(s)	Female ; Humans ; Hypercapnia/diagnosis ; Hypercapnia/etiology ; Hypercapnia/therapy ; Hypoventilation/diagnosis ; Hypoventilation/therapy ; Infant ; Muscle Hypotonia ; Rett Syndrome/complications ; Rett Syndrome/diagnosis ; Rett Syndrome/therapy ; Sleep
Language	English
Publishing date	2022-09-07
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2088556-8
ISSN	1824-7288 ; 1720-8424
ISSN (online)	1824-7288
ISSN	1720-8424
DOI	10.1186/s13052-022-01359-7
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