0000000000485510

AUTHOR

V Silani

showing 3 related works from this author

Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALS.

2013

Our objective was to assess the effects of acetyl-L-carnitine (ALC) with riluzole on disability and mortality of amyotrophic lateral sclerosis (ALS). Definite/probable ALS patients, 40-70 years of age, duration 6-24 months, self-sufficient (i.e. able to swallow, cut food/handle utensils, and walk), and with forced vital capacity (FVC) > 80% entered a pilot double-blind, placebo-controlled, parallel group trial and were followed for 48 weeks. ALC or placebo 3 g/day was added to riluzole 100 mg/day. Primary endpoint: number of patients no longer self-sufficient. Secondary endpoints: changes in ALSFRS-R, MRC, FVC and McGill Quality of Life (QoL) scores. Analysis was made in the intention-to-tr…

Maleamyotrophic lateral sclerosisVital CapacityPlacebo-controlled studyPilot ProjectsGastroenterologylaw.inventionRandomized controlled triallawAcetyl-L-carnitineamyotrophic lateral sclerosis; motor neuron disease; randomized trial; acetyl-l-carnitinerandomized trialAmyotrophic lateral sclerosisAcetylcarnitineALS acetyl-L-carnitineNootropic AgentsRiluzoleMiddle AgedRiluzoleTreatment OutcomeNeurologyCombinationDisease Progressionmotor neuron diseaseDrug Therapy CombinationSettore MED/26 - NeurologiaFemaleAcetylcarnitinemedicine.drugAdultmedicine.medical_specialtyAcetyl-L-carnitine amyotrophic lateral sclerosis motor neuron disease randomized trialDouble blindDouble-Blind MethodDrug TherapyInternal medicinemedicineHumansAgedMED/26 - NEUROLOGIAbusiness.industryDisease progressionmedicine.diseaseAcetyl-L-carnitineSurgeryQuality of LifeAcetylcarnitine; Adult; Aged; Amyotrophic Lateral Sclerosis; Disease Progression; Double-Blind Method; Drug Therapy Combination; Excitatory Amino Acid Antagonists; Female; Humans; Male; Middle Aged; Nootropic Agents; Pilot Projects; Quality of Life; Riluzole; Treatment Outcome; Vital CapacityNeurology (clinical)businessExcitatory Amino Acid Antagonists
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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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Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: clinical and biological results from a prospective multic…

2011

Granulocyte colony-stimulating factor (G-CSF) induces a transient mobilization of hematopoietic progenitor cells from bone marrow to peripheral blood. Our aim was to evaluate safety of repeated courses of G-CSF in patients with amyotrophic lateral sclerosis (ALS), assessing disease progression and changes in chemokine and cytokine levels in serum and cerebrospinal fluid (CSF). Twenty-four ALS patients entered an open-label, multicenter trial in which four courses of G-CSF and mannitol were administered at 3-month intervals. Levels of G-CSF were increased after treatment in the serum and CSF. Few and transitory adverse events were observed. No significant reduction of the mean monthly decrea…

Keywords:amyotrophic lateral sclerosiclinical trialhematopoietic stem cellSettore MED/26 - Neurologiagranulocyte colony-stimulating factorneuroinflammation
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