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Article ; Online: Strongyloides Autoinfection Manifesting as Larva Currens in an Immunocompetent Patient.

Drago, Francesco / Ciccarese, Giulia / Brigati, Claudio / Parodi, Aurora

Journal of cutaneous medicine and surgery

2016 Volume 20, Issue 6, Page(s) 617–618

MeSH term(s)	Adolescent ; Animals ; Humans ; Immunocompetence ; Larva Migrans/diagnosis ; Male ; Skin Diseases, Parasitic/diagnosis ; Skin Diseases, Parasitic/parasitology ; Strongyloides stercoralis/isolation & purification ; Strongyloidiasis/complications ; Strongyloidiasis/diagnosis
Language	English
Publishing date	2016-11
Publishing country	United States
Document type	Case Reports ; Letter
ZDB-ID	1361720-5
ISSN	1615-7109 ; 1203-4754
ISSN (online)	1615-7109
ISSN	1203-4754
DOI	10.1177/1203475416650443
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Article ; Online: Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.

Scala, Marcello / Brigati, Giorgia / Fiorillo, Chiara / Nesti, Claudia / Rubegni, Anna / Pedemonte, Marina / Bruno, Claudio / Severino, Mariasavina / Derchi, Maria / Minetti, Carlo / Santorelli, F M

Neurogenetics

2019 Volume 20, Issue 3, Page(s) 165–172

Abstract: TSFM is a nuclear gene encoding the elongation factor Ts (EFTs), an essential component of mitochondrial translational machinery. Impaired mitochondrial translation is responsible for neurodegenerative disorders characterized by multiple respiratory ... ...

Abstract	TSFM is a nuclear gene encoding the elongation factor Ts (EFTs), an essential component of mitochondrial translational machinery. Impaired mitochondrial translation is responsible for neurodegenerative disorders characterized by multiple respiratory chain complex defects, multisystemic involvement, and neuroradiological features of Leigh-like syndrome. With the use of a next-generation sequencing (NGS)-based multigene panel for mitochondrial disorders, we identified the novel TSFM homozygous variant c.547G>A (p.Gly183Ser) in a 5-year-old boy with infantile early onset encephalocardiomyopathy, sensorineural hearing loss, and peculiar partially reversible neuroimaging features. Our findings expand the phenotypic spectrum of TSFM-related encephalopathy, offering new insights into the natural history of brain involvement and suggesting that TSFM should be investigated in pediatric mitochondrial disorders with distinctive neurologic and cardiac involvement.
MeSH term(s)	Biopsy ; Brain/diagnostic imaging ; Brain Diseases/complications ; Brain Diseases/genetics ; Cardiomyopathies/complications ; Cardiomyopathies/genetics ; Child, Preschool ; Developmental Disabilities/genetics ; Electron Transport ; Genetic Variation ; Hearing Loss, Sensorineural/complications ; Hearing Loss, Sensorineural/genetics ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Mitochondrial Diseases/genetics ; Mitochondrial Proteins/genetics ; Muscle Hypotonia/genetics ; Neuroimaging ; Oligonucleotide Array Sequence Analysis ; Peptide Elongation Factors/genetics ; Protein Biosynthesis
Chemical Substances	Mitochondrial Proteins ; Peptide Elongation Factors ; TSFM protein, human
Language	English
Publishing date	2019-07-02
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1339887-8
ISSN	1364-6753 ; 1364-6745
ISSN (online)	1364-6753
ISSN	1364-6745
DOI	10.1007/s10048-019-00582-5
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Article ; Online: Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Pera, Maria Carmela / Coratti, Giorgia / Berti, Beatrice / D'Amico, Adele / Sframeli, Maria / Albamonte, Emilio / de Sanctis, Roberto / Messina, Sonia / Catteruccia, Michela / Brigati, Giorgia / Antonaci, Laura / Lucibello, Simona / Bruno, Claudio / Sansone, Valeria A / Bertini, Enrico / Tiziano, Danilo / Pane, Marika / Mercuri, Eugenio

PloS one

2020 Volume 15, Issue 3, Page(s) e0230677

Abstract: Background: The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of diagnosis in the three main types of SMA with pediatric-onset and the ... ...

Abstract	Background: The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of diagnosis in the three main types of SMA with pediatric-onset and the timing between the recognition of clinical signs and confirmed genetic diagnosis. Methods: All patients with a confirmed diagnosis of type I, II, III SMA followed in 5 Italian centers were included in this study, assessing age at symptoms onset, presenting sign or symptom, age at diagnosis, interval between clinical onset and diagnosis and type of medical investigations conducted in order to obtain the diagnosis. Results: The cohort included 480 patients, 191 affected by SMA type I, 210 by type II and 79 by type III. The mean age at diagnosis was 4.70 months (SD ±2.82) in type I, 15.6 months (SD±5.88) in type II, and 4.34 years (SD±4.01) in type III. The mean time between symptom onset and diagnosis was 1.94 months (SD±1.84) in type I, 5.28 months (SD±4.68) in type II and 16.8 months (SD±18.72) in type III. Conclusions: Our results suggest that despite improved care recommendations there is still a marked diagnostic delay, especially in type III. At the time new therapies are becoming available more attention should be devoted to reducing such delay as there is consistent evidence of the benefit of early treatment.
MeSH term(s)	Age of Onset ; Cohort Studies ; Female ; Humans ; Infant ; Male ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics
Language	English
Publishing date	2020-03-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0230677
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Article ; Online: Type I SMA "new natural history": long-term data in nusinersen-treated patients.

Pane, Marika / Coratti, Giorgia / Sansone, Valeria A / Messina, Sonia / Catteruccia, Michela / Bruno, Claudio / Sframeli, Maria / Albamonte, Emilio / Pedemonte, Marina / D'Amico, Adele / Bravetti, Chiara / Berti, Beatrice / Palermo, Concetta / Leone, Daniela / Brigati, Giorgia / Tacchetti, Paola / Salmin, Francesca / De Sanctis, Roberto / Lucibello, Simona /

Pera, Maria Carmela / Piastra, Marco / Genovese, Orazio / Bertini, Enrico / Vita, Gianluca / Tiziano, Francesco Danilo / Mercuri, Eugenio

Annals of clinical and translational neurology

2021 Volume 8, Issue 3, Page(s) 548–557

Abstract: Objective: The aim of this paper was to report the 2-year follow-up in type I patients treated with Nusinersen and to assess whether possible changes in motor function are related to the subtype, age, or SMN2 copy number.: Methods: Sixty-eight ... ...

Abstract	Objective: The aim of this paper was to report the 2-year follow-up in type I patients treated with Nusinersen and to assess whether possible changes in motor function are related to the subtype, age, or SMN2 copy number. Methods: Sixty-eight patients, with ages ranging from 0.20 to 15.92 years (mean: 3.96; standard deviation: +3.90) were enrolled in the study. All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the developmental section of the Hammersmith Infant Neurological Examination (HINE-2) at the time they started treatment and 12 and 24 months after that. Results: For both CHOP and HINE-2 repeated measures analysis of variance showed a significant difference (P < 0.001) between baseline and 12 months, 12 months and 24 months, and baseline and 24-month scores for the whole group. When age subgroups (<210 days, <2 years, 2-4 years, 5-11 years, 12-18 years) were considered, on the CHOP INTEND the difference was significant between baseline and 24 months in all age subgroups. On the HINE-2, the difference between baseline and 24 months was significant in all the subgroups before the age of 4 years. Age was predictive of changes on both scales (P < 0.05), whereas SMN2 copy number and decimal classification were not. Interpretation: Our results suggest that some improvement of motor function can be observed even after the first year of treatment. This is more obvious in the infants treated in the first 2 years but some improvement can also be found in older children.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Follow-Up Studies ; Humans ; Infant ; Oligonucleotides/pharmacology ; Outcome Assessment, Health Care ; Severity of Illness Index ; Spinal Muscular Atrophies of Childhood/drug therapy ; Spinal Muscular Atrophies of Childhood/genetics ; Spinal Muscular Atrophies of Childhood/physiopathology ; Survival of Motor Neuron 2 Protein/genetics
Chemical Substances	Oligonucleotides ; SMN2 protein, human ; Survival of Motor Neuron 2 Protein ; nusinersen (5Z9SP3X666)
Language	English
Publishing date	2021-02-06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2740696-9
ISSN	2328-9503 ; 2328-9503
ISSN (online)	2328-9503
ISSN	2328-9503
DOI	10.1002/acn3.51276
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Article ; Online: Diagnostic journey in Spinal Muscular Atrophy

Maria Carmela Pera / Giorgia Coratti / Beatrice Berti / Adele D'Amico / Maria Sframeli / Emilio Albamonte / Roberto de Sanctis / Sonia Messina / Michela Catteruccia / Giorgia Brigati / Laura Antonaci / Simona Lucibello / Claudio Bruno / Valeria A Sansone / Enrico Bertini / Danilo Tiziano / Marika Pane / Eugenio Mercuri

PLoS ONE, Vol 15, Iss 3, p e

Is it still an odyssey?

2020 Volume 0230677

Abstract: BACKGROUND:The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of diagnosis in the three main types of SMA with pediatric-onset and the timing ... ...

Abstract	BACKGROUND:The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of diagnosis in the three main types of SMA with pediatric-onset and the timing between the recognition of clinical signs and confirmed genetic diagnosis. METHODS:All patients with a confirmed diagnosis of type I, II, III SMA followed in 5 Italian centers were included in this study, assessing age at symptoms onset, presenting sign or symptom, age at diagnosis, interval between clinical onset and diagnosis and type of medical investigations conducted in order to obtain the diagnosis. RESULTS:The cohort included 480 patients, 191 affected by SMA type I, 210 by type II and 79 by type III. The mean age at diagnosis was 4.70 months (SD ±2.82) in type I, 15.6 months (SD±5.88) in type II, and 4.34 years (SD±4.01) in type III. The mean time between symptom onset and diagnosis was 1.94 months (SD±1.84) in type I, 5.28 months (SD±4.68) in type II and 16.8 months (SD±18.72) in type III. CONCLUSIONS:Our results suggest that despite improved care recommendations there is still a marked diagnostic delay, especially in type III. At the time new therapies are becoming available more attention should be devoted to reducing such delay as there is consistent evidence of the benefit of early treatment.
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2020-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
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Article ; Online: Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function.

Pane, Marika / Palermo, Concetta / Messina, Sonia / Sansone, Valeria A / Bruno, Claudio / Catteruccia, Michela / Sframeli, Maria / Albamonte, Emilio / Pedemonte, Marina / D'Amico, Adele / Brigati, Giorgia / de Sanctis, Roberto / Coratti, Giorgia / Lucibello, Simona / Bertini, Enrico / Vita, Giuseppe / Tiziano, Francesco Danilo / Mercuri, Eugenio

Neuromuscular disorders : NMD

2018 Volume 28, Issue 7, Page(s) 582–585

Abstract: We report preliminary data on the six month use of Nusinersen in 104 type 1 patients of age ranging from three months to 19 years, 9 months. Ten of the 104 were classified as 1.1, 58 as 1.5 and 36 as 1.9. Three patients had one SMN2 copy, 65 had two and ... ...

Abstract	We report preliminary data on the six month use of Nusinersen in 104 type 1 patients of age ranging from three months to 19 years, 9 months. Ten of the 104 were classified as 1.1, 58 as 1.5 and 36 as 1.9. Three patients had one SMN2 copy, 65 had two and 24 had three copies. In 12 the SMN2 copy number was not available. After six months an improvement of more than two points was found in 58 of the 104 (55.7%) on the CHOP INTEND and in 21 of the 104 (20.19%) on the Hammersmith Infant Neurological Examination (HINE). Changes more than two points were found in 26/71 patients older than two years, and in seven of the 20 older than 10 years. Changes ≥ four points were found in 20/71 older than two years, and in six of the 20 patients older than 10 years. The difference between baseline and six months on both CHOP INTEND and HINE was significant for the whole group (p < 0.001) as well as for the subgroups with two (p < 0.001), and three SMN2 copies (p < 0.001). Our preliminary results suggest that functional improvement can be observed in type 1 patients outside the range of the inclusion criteria used in the Endear study.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Motor Skills/drug effects ; Neurologic Examination ; Oligonucleotides/pharmacology ; Oligonucleotides/therapeutic use ; Spinal Muscular Atrophies of Childhood/drug therapy ; Treatment Outcome ; Young Adult
Chemical Substances	Oligonucleotides ; nusinersen (5Z9SP3X666)
Language	English
Publishing date	2018-06-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2018.05.010
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Article ; Online: An observational study of functional abilities in infants, children, and adults with type 1 SMA.

Neurology

2018 Volume 91, Issue 8, Page(s) e696–e703

Abstract: Objective: To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy.: Methods: We included 122 patients, of age ranging between 3 months and 22 years, 1 month. More than 70% (85/122) were ... ...

Abstract	Objective: To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. Methods: We included 122 patients, of age ranging between 3 months and 22 years, 1 month. More than 70% (85/122) were older than 2 years and 25% (31/122) older than 10 years. Patients were classified according to the severity of phenotype and to the number of Results: Patients with the more common and the most severe phenotype older than 2 years were, with few exceptions, on noninvasive ventilation and, with increasing age, more often had tracheostomy or >16-hour ventilation and a gastrostomy inserted. In contrast, 25 of the 28 patients with the mildest phenotype older than 2 years had no need for tracheostomy or other ventilatory or nutritional support. In patients older than 2 years, the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were generally lower compared to those found in younger patients and showed distinct levels of functional abilities according to the severity of the phenotype. Similar findings were also observed on the Hammersmith Infant Neurological Examination. Conclusions: Our findings confirm that, after the age of 2 years, patients with type 1 spinal muscular atrophy generally survive only if they have gastrostomy and tracheostomy or noninvasive ventilation >16 hours and have low scores on the functional scales. More variability, however, can be expected in those with the mildest phenotype, who achieve head control. These data provide important baseline information at the time treatments are becoming available.
MeSH term(s)	Activities of Daily Living ; Age of Onset ; Child ; Child, Preschool ; Cohort Studies ; Cross-Sectional Studies ; Disability Evaluation ; Female ; Humans ; Infant ; Interactive Ventilatory Support ; Male ; Mutation/genetics ; Oligonucleotides/therapeutic use ; Severity of Illness Index ; Spinal Muscular Atrophies of Childhood/epidemiology ; Spinal Muscular Atrophies of Childhood/genetics ; Spinal Muscular Atrophies of Childhood/physiopathology ; Spinal Muscular Atrophies of Childhood/therapy ; Survival of Motor Neuron 1 Protein/genetics
Chemical Substances	Oligonucleotides ; SMN1 protein, human ; Survival of Motor Neuron 1 Protein ; nusinersen (5Z9SP3X666)
Language	English
Publishing date	2018-07-25
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Observational Study ; Research Support, Non-U.S. Gov't
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000006050
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Article ; Online: Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.

Annals of neurology

2019 Volume 86, Issue 3, Page(s) 443–451

Abstract: Objective: The aim of the study was to report 12-month changes after treatment with nusinersen in a cohort of 85 type I spinal muscular atrophy patients of ages ranging from 2 months to 15 years and 11 months.: Methods: All patients were assessed ... ...

Abstract	Objective: The aim of the study was to report 12-month changes after treatment with nusinersen in a cohort of 85 type I spinal muscular atrophy patients of ages ranging from 2 months to 15 years and 11 months. Methods: All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination-Section 2 (HINE-2). Results: Two of the 85 patients had 1 SMN2 copy, 61 had 2 copies, and 18 had 3 copies. In 4 patients the SMN2 copy number was not available. At baseline, the mean CHOP INTEND scores ranged between 0 and 52 (mean = 15.66, standard deviation [SD] = ±13.48), and the mean HINE-2 score was between 0 and 5 (mean = 0.69, SD = ±1.23). There was a difference between baseline and the 12-month scores on both the CHOP INTEND and the HINE-2 for the whole group (p < 0.001), the subgroups with 2 SMN2 copies (p < 0.001), and those with 3 SMN2 copies (p < 0.001). The difference was found not only in patients younger than 210 days at baseline (p < 0.001) but also in those younger than 5 years on the CHOP INTEND and younger than 2 years on the HINE-2. Interpretation: Our results, expanding the age range and the severity of type I patients treated with nusinersen over 1 year, provide additional data on the range of efficacy of the drug that will be helpful in making an informed decision on whether to start treatment in patients of different ages and severity. ANN NEUROL 2019;86:443-451.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; DNA Copy Number Variations/genetics ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Oligonucleotides/therapeutic use ; Severity of Illness Index ; Spinal Muscular Atrophies of Childhood/drug therapy ; Spinal Muscular Atrophies of Childhood/genetics ; Survival of Motor Neuron 2 Protein/genetics ; Treatment Outcome
Chemical Substances	Oligonucleotides ; SMN2 protein, human ; Survival of Motor Neuron 2 Protein ; nusinersen (5Z9SP3X666)
Language	English
Publishing date	2019-07-08
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.25533
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Article ; Online: Toward an epigenetic view of our musical mind.

Brigati, Claudio / Saccuman, Maria Cristina / Banelli, Barbara / Di Vinci, Angela / Casciano, Ida / Borzì, Luana / Forlani, Alessandra / Allemanni, Giorgio / Romani, Massimo

Frontiers in genetics

2012 Volume 2, Page(s) 111

Abstract: We are transient beings, in a world of constantly changing culture. At home in the fields of Art and Science, seemingly capable of magnificent abstractions, humans have an intense need to externalize their insights. Music is an art and a highly ... ...

Abstract	We are transient beings, in a world of constantly changing culture. At home in the fields of Art and Science, seemingly capable of magnificent abstractions, humans have an intense need to externalize their insights. Music is an art and a highly transmissible cultural product, but we still have an incomplete understanding of how our musical experience shapes and is vividly retained within our brain, and how it affects our behavior. However, the developing field of social epigenetics is now helping us to describe how communication and emotion, prime hallmarks of music, can be linked to a transmissible, biochemical change.
Language	English
Publishing date	2012-01-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021 ; 1664-8021
ISSN (online)	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2011.00111
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Article ; Online: Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.

Bruno, Claudio / Cassandrini, Denise / Fattori, Fabiana / Pedemonte, Marina / Fiorillo, Chiara / Brigati, Giorgia / Brisca, Giacomo / Minetti, Carlo / Santorelli, Filippo M

Biochemical and biophysical research communications

2011 Volume 412, Issue 4, Page(s) 518–521

Abstract: We report an 11-year-old boy with exercise-related myopathy, and a novel mutation m.5669G>A in the mitochondrial tRNA Asparagine gene (mt-tRNA(Asn), MTTN). Muscle biopsy studies showed COX-negative, SDH-positive fibers at histochemistry and biochemical ... ...

Abstract	We report an 11-year-old boy with exercise-related myopathy, and a novel mutation m.5669G>A in the mitochondrial tRNA Asparagine gene (mt-tRNA(Asn), MTTN). Muscle biopsy studies showed COX-negative, SDH-positive fibers at histochemistry and biochemical defects of oxidative metabolism. The m.5669G>A mutation was present only in patient's muscle resulting in the first muscle-specific MTTN mutation. Mt-tRNA(Asn) steady-state levels and in silico predictions supported the pathogenicity of this mutation. A mitochondrial myopathy should be considered in the differential diagnosis of exercise intolerance in children.
MeSH term(s)	Base Sequence ; Child ; DNA, Mitochondrial/genetics ; Exercise Tolerance/genetics ; Humans ; Male ; Mitochondria, Muscle/genetics ; Mitochondrial Myopathies/genetics ; Mitochondrial Myopathies/pathology ; Mitochondrial Myopathies/physiopathology ; Molecular Sequence Data ; Muscle Weakness/genetics ; Muscle Weakness/pathology ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Nucleic Acid Conformation ; RNA/chemistry ; RNA/genetics ; RNA, Transfer, Asn/chemistry ; RNA, Transfer, Asn/genetics
Chemical Substances	DNA, Mitochondrial ; RNA, Transfer, Asn ; RNA, mitochondrial ; RNA (63231-63-0)
Language	English
Publishing date	2011-09-09
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	205723-2
ISSN	1090-2104 ; 0006-291X ; 0006-291X
ISSN (online)	1090-2104 ; 0006-291X
ISSN	0006-291X
DOI	10.1016/j.bbrc.2011.06.155
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