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

6533b821fe1ef96bd127b7a4

RESEARCH PRODUCT

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

Jo Johnson R Chia De Miller R Li R Kumaran Y Abramzon N Alahmady Ae Renton Sd Topp Jr Gibbs Mr Cookson Ms Sabir Cl Dalgard C Troakes Ar Jones A Shatunov A Iacoangeli A Al Khleifat N Ticozzi V Silani C Gellera Ip Blair C Dobson-stone Jb Kwok Es Bonkowski R Palvadeau Pj Tienari Ke Morrison Pj Shaw A Al-chalabi Rh Brown A Calvo G Mora H Al-saif M Gotkine F Leigh Ij Chang Sj Perlman I Glass Ai Scott Ce Shaw An Basak Je Landers A Chiò To Crawford Bn Smith Bj Traynor Bn Smith N Ticozzi C Fallini As Gkazi Sd Topp El Scotter Kp Kenna P Keagle C Tiloca C Vance C Troakes C Colombrita A King V Pensato B Castellotti F Baas Alma Ten Asbroek D Mckenna-yasek Rl Mclaughlin M Polak S Asress J Esteban-pérez Z Stevic S D’alfonso L Mazzini Gp Comi R Del Bo M Ceroni S Gagliardi G Querin C Bertolin W Van Rheenen R Rademakers Marka Van Blitterswijk G Lauria S Duga S Corti C Cereda L Corrado G Sorarù Kl Williams Ga Nicholson Ip Blair C Leblond-manry Ga Rouleau O Hardiman Ke Morrison Jh Veldink Lh Van Den Berg A Al-chalabi H Pall Pj Shaw Mr Turner K Talbot F Taroni A García-redondo Z Wu Jd Glass C Gellera A Ratti Rh Brown V Silani Ce Shaw Je Landers Cl Dalgard A Adeleye Ar Soltis C Alba C Viollet D Bacikova Dn Hupalo G Sukumar Hb Pollard Md Wilkerson Em Martinez Y Abramzon S Ahmed S Arepalli Rh Baloh R Bowser Cb Brady A Brice J Broach Rh Campbell W Camu R Chia J Cooper-knock J Ding C Drepper Ve Drory Tl Dunckley Jd Eicher Bk England F Faghri E Feldman Mk Floeter P Fratta Jt Geiger G Gerhard Jr Gibbs Sb Gibson Jd Glass J Hardy Mb Harms Td Heiman-patterson Dg Hernandez L Jansson J Kirby Nw Kowall H Laaksovirta N Landeck F Landi I Le Ber S Lumbroso Djl Macgowan Nj Maragakis G Mora K Mouzat Na Murphy L Myllykangas Ma Nalls Rw Orrell Lw Ostrow R Pamphlett Stuart Pickering-brown Ep Pioro O Pletnikova Ha Pliner Sm Pulst Jm Ravits Ae Renton A Rivera W Robberecht E Rogaeva S Rollinson Jd Rothstein Sw Scholz M Sendtner Pj Shaw Kc Sidle Z Simmons Ab Singleton N Smith Dj Stone Pj Tienari Jc Troncoso M Valori P Van Damme Vm Van Deerlin Ludo Van Den Bosch L Zinman Je Landers A Chiò Bj Traynor Sm Angelocola Fp Ausiello M Barberis I Bartolomei S Battistini E Bersano G Bisogni G Borghero M Brunetti C Cabona A Calvo F Canale A Canosa Ta Cantisani M Capasso C Caponnetto P Cardinali P Carrera F Casale A Chiò T Colletti Fl Conforti A Conte E Conti M Corbo S Cuccu E Dalla Bella E D’errico G Demarco R Dubbioso C Ferrarese Pm Ferraro M Filippi N Fini G Floris G Fuda S Gallone G Gianferrari F Giannini M Grassano L Greco B Iazzolino A Introna V La Bella S Lattante G Lauria R Liguori G Logroscino Fo Logullo C Lunetta P Mandich J Mandrioli U Manera F Manganelli G Marangi K Marinou Mg Marrosu I Martinelli S Messina C Moglia G Mora L Mosca Mr Murru P Origone C Passaniti C Petrelli A Petrucci S Pozzi M Pugliatti A Quattrini C Ricci G Riolo N Riva M Russo M Sabatelli P Salamone M Salivetto F Salvi M Santarelli L Sbaiz R Sideri I Simone C Simonini R Spataro R Tanel G Tedeschi A Ticca A Torriello S Tranquilli L Tremolizzo F Trojsi R Vasta V Vacchiano G Vita P Volanti M Zollino E Zucchi

subject

Hereditary sensory neuropathy; L-serine; Mutations; Deoxysphingolipids; Accumulation Enzyme complex Juvenile amyotrophic lateral sclerosis Serine C-Palmitoyltransferase /dk/atira/pure/subjectarea/asjc/2700/2728 Whole Exome Sequencing 0302 clinical medicine Medicine Family history Amyotrophic lateral sclerosis Child Index case Exome sequencing Original Investigation 0303 health sciences Neurosciences and neurology 3. Good health Child Preschool Failure to thrive Female medicine.symptom Life Sciences & Biomedicine L-SERINE Comments Human Adult medicine.medical_specialty Adolescent; Adult; Amyotrophic Lateral Sclerosis; Child; Child Preschool; Female; Genetic Predisposition to Disease; Humans; Mutation; Serine C-Palmitoyltransferase; Whole Exome Sequencing; Young Adult Adolescent Clinical Neurology NO 03 medical and health sciences Young Adult DEOXYSPHINGOLIPIDS Internal medicine Exome Sequencing Online First Humans Juvenile Genetic Predisposition to Disease Preschool 030304 developmental biology ACCUMULATION Science & Technology SPTLC1 business.industry MUTATIONS Research Amyotrophic Lateral Sclerosis 3112 Neurosciences medicine.disease HEREDITARY SENSORY NEUROPATHY juvenile Mutation 3111 Biomedicine Neurology (clinical)Neurosciences & Neurology ALS genetic business 030217 neurology & neurosurgery Amyotrophic Lateral Sclerosi

description

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.

year	journal	country	edition	language
2021-10-01

10.1001/jamaneurol.2021.2598 https://hdl.handle.net/11585/852152