Recurrent de novo SPTLC2 variant causes childhoodonset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Subjects

Subjects :

AMYOTROPHIC lateral sclerosis
SPASTICITY
FAMILIAL spastic paraplegia
LIQUID chromatography-mass spectrometry

Details

Language :

English

ISSN :

00223050

Volume :

95

Issue :

2

Database :

Complementary Index

Journal :

Journal of Neurology, Neurosurgery & Psychiatry

Publication Type :

Academic Journal

Accession number :

175506148

Full Text :

https://doi.org/10.1136/jnnp-2023-332132