0000000000485688

AUTHOR

E Dalla Bella

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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Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomized, double blind, placebo controlled, phase III study.

2015

Objective To assess the efficacy of recombinant human erythropoietin (rhEPO) in amyotrophic lateral sclerosis (ALS). Methods Patients with probable laboratory-supported, probable or definite ALS were enrolled by 25 Italian centres and randomly assigned (1:1) to receive intravenous rhEPO 40 000 IU or placebo fortnightly as add-on treatment to riluzole 100 mg daily for 12 months. The primary composite outcome was survival, tracheotomy or >23 h non-invasive ventilation (NIV). Secondary outcomes were ALSFRS-R, slow vital capacity (sVC) and quality of life (ALSAQ-40) decline. Tolerability was evaluated analysing adverse events (AEs) causing withdrawal. The randomisation sequence was computer-…

MaleGastroenterologylaw.inventionRandomized controlled triallaw1506Amyotrophic lateral sclerosisMOTOR NEURON DISEASEeducation.field_of_studyRecombinant ProteinMiddle AgedRecombinant ProteinsTreatment OutcomePsychiatry and Mental HealthNeuromuscularSettore MED/26 - NeurologiaFemaleerythropoietyn clinical trialmedicine.drugHumanALS; MOTOR NEURON DISEASE; Adult; Aged; Amyotrophic Lateral Sclerosis; Double-Blind Method; Erythropoietin; Female; Humans; Male; Middle Aged; Recombinant Proteins; Treatment OutcomeAdultmedicine.medical_specialtyPopulationSocio-culturalePlaceboDouble blindALS; erythropoietyn clinical trialDouble-Blind MethodArts and Humanities (miscellaneous)ALS; MOTOR NEURON DISEASE; Adult; Aged; Amyotrophic Lateral Sclerosis; Double-Blind Method; Epoetin Alfa; Erythropoietin; Female; Humans; Male; Middle Aged; Recombinant Proteins; Treatment Outcome; Neurology (clinical); Psychiatry and Mental Health; Surgery; Arts and Humanities (miscellaneous)Internal medicinemedicineALS; MOTOR NEURON DISEASEHumanseducationErythropoietinAgedbusiness.industryAmyotrophic Lateral SclerosisEpoetin alfamedicine.diseaseSurgeryClinical trialEpoetin AlfaErythropoietinSurgeryNeurology (clinical)ALSbusinessAmyotrophic Lateral Sclerosi
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