Juvenile amyotrophic lateral sclerosis (JALS) is a rare and severe motor neuron disease defined by an onset before the age of 25 with currently no available therapy. Only a few genes have been linked to JALS such as ALS2, FUS, SETX, SPG11, SIGMAR1, and more recently SPTLC1. This gene encodes one of the subunits of serine palmitoyltransferase (SPT), which is the first enzyme for de novo sphingolipid biosynthesis.
We performed molecular analysis of 1130 patients with ALS, with 50 of them meeting the criteria for juvenile ALS. Plasma lipid profile of patients with SPTLC1 mutation were...]]>
Inherited white matter disorders (IWMDs) comprise a group of genetic disorders with onset from childhood to late adulthood in which there is degeneration of central nervous system white matter tracts. They are clinically and genetically heterogeneous. In adults, there may be a wide variety of clinical manifestations including cognitive decline, spasticity and ataxia, and the general course is progressive. Despite advances in imaging, phenotyping and genetic analysis, at least one-third of patient with suspected adult-onset IWMDs are refractory to diagnosis—hindering prognostication, reproductive decision making and the identification of disease-modifying treatments.
In this report, we describe a novel phenotype of extensive, confluent, paucisymptomatic adult-onset leukoencephalopathy in adults caused by a 248 kb microdeletion of 17p13.3, which unlike other similar microdeletion syndromes has no impact on psychomotor development and has not been associated with any syndromic or extraneurological features so far.
The proband (patient...]]>