0000000000485709

AUTHOR

Fo Logullo

showing 2 related works from this author

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2021

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.

Hereditary sensory neuropathy; L-serine; Mutations; Deoxysphingolipids; AccumulationEnzyme complexJuvenile amyotrophic lateral sclerosisSerine C-Palmitoyltransferase/dk/atira/pure/subjectarea/asjc/2700/2728Whole Exome Sequencing0302 clinical medicineMedicineFamily historyAmyotrophic lateral sclerosisChildIndex caseExome sequencingOriginal Investigation0303 health sciencesNeurosciences and neurology3. Good healthChild PreschoolFailure to thriveFemalemedicine.symptomLife Sciences & BiomedicineL-SERINECommentsHumanAdultmedicine.medical_specialtyAdolescent; Adult; Amyotrophic Lateral Sclerosis; Child; Child Preschool; Female; Genetic Predisposition to Disease; Humans; Mutation; Serine C-Palmitoyltransferase; Whole Exome Sequencing; Young AdultAdolescentClinical NeurologyNO03 medical and health sciencesYoung AdultDEOXYSPHINGOLIPIDSInternal medicineExome SequencingOnline FirstHumansJuvenileGenetic Predisposition to DiseasePreschool030304 developmental biologyACCUMULATIONScience & TechnologySPTLC1business.industryMUTATIONSResearchAmyotrophic Lateral Sclerosis3112 Neurosciencesmedicine.diseaseHEREDITARY SENSORY NEUROPATHYjuvenileMutation3111 BiomedicineNeurology (clinical)Neurosciences & NeurologyALSgeneticbusiness030217 neurology & neurosurgeryAmyotrophic Lateral Sclerosi
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The Italian multiple sclerosis register

2019

The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the …

Register (sociolinguistics)AdultMaleKnowledge managementDatabases FactualEpidemiologymedia_common.quotation_subjectDisease epidemiologyEpidemiology; Multiple sclerosis; Quality of care; RegisterLongitudinal StudieDermatologyNOCohort StudiesMultiple sclerosisDatabases03 medical and health sciences0302 clinical medicineMultiple SclerosiHumansQuality (business)Longitudinal Studies030212 general & internal medicineRegistriesEpidemiology Multiple sclerosis Quality of care Register Adult Cohort Studies Data Collection Databases Factual Female; Humans Italy; Longitudinal Studies Male Multiple Sclerosis RegistriesQuality of careFactualmedia_commonData collectionbusiness.industryData CollectionQuality of careCorrectionEpidemiology; Multiple sclerosis; Quality of care; Register; Adult; Cohort Studies; Data Collection; Databases Factual; Female; Humans; Italy; Longitudinal Studies; Male; Multiple Sclerosis; RegistriesGeneral MedicineRegisterItalyRegister dataPsychiatry and Mental HealthObservational studyOriginal ArticleSettore MED/26 - NeurologiaFemaleBusinessNeurology (clinical)Cohort Studie030217 neurology & neurosurgeryEpidemiology; Multiple sclerosis; Quality of care; Register; 2708; Neurology (clinical); Psychiatry and Mental Health2708Human
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