The end game for personalized medicine is to provide the most effective individual treatment by providing “the right patient with the right drug at the right dose at the right time.” Read more!
Advanced treatment – tailored to the individual patient instead of “one-size-fits-all” – is the zenith of personalized, or precision, medicine.
We identified a homozygous novel missense mutation in ASNS gene in both probands and we demonstrated low CSF and plasma asparagine in both patients. Read more!
Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia.
Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis.
Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the best of our knowledge, the first Portuguese case with infantile ascending hereditary spastic paraplegia.
We present clinical and molecular findings of a patient with ceroid-lipofuscinosis CLN7, with a compound heterozygous mutation of the MFSD8 gene, with Rett syndrome clinical signs onset and a later development of full picture of vLINCL.
We present clinical and molecular findings of a patient with ceroid-lipofuscinosis CLN7, with a compound heterozygous mutation of the MFSD8 gene, with Rett syndrome clinical signs onset and a later development of full picture of vLINCL.
We report two new, putative TOR1A mutations that we examined functionally in comparison with wild-type protein and two known mutations. Read more!
Here, we report two new, putative TOR1A mutations (p.A14_P15del and p.E121K) that we examined functionally in comparison with wildtype (WT) protein and two known mutations (E and p.R288Q).
We report the clinical and pathological findings of 2 siblings with HSAN type 2 due to a homozygous mutation in FAM134B. Read more!
Hereditary sensory and autonomic neuropathy (HSAN) type 2 is a rare autosomal recessive disease that was first described by Ota et al in 1973 (1). We report the clinical and pathological findings of 2 siblings with HSAN type 2 due to a homozygous mutation in FAM134B.
One aim of this study was to analyze whether persistent cTNI can be a suitable biomarker to assess cardiac dysfunction in Fabry disease. Read more!
Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD.
We compared baseline data of patients included in a recent large study addressing young stroke in comparison to a large representative stroke registry. Read more!
The comparison of baseline characteristics between the sifap1 study and the GQH registry revealed differences mainly determined by age.
In this study, we optimized the Lysotracker assay and validated it in a prospective study of more than 100 NPC patients. Read more on our website.
In this study, we optimized the Lysotracker assay and validated it in a prospective study of more than 100 NPC patients derived from multiple independent clinical cohorts to ensure statistical power.
In this publication we evaluated the influence of a novel arylindolylmaleimide (PDA-66), a potential GSK3β inhibitor, on several ALL cell lines. Read more!
PDA-66 displays significant antileukemic activity in ALL cells and classifies as candidate for further evaluation as a potential drug in targeted therapy of ALL.
We determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease. Read more!
Here, we determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease (GD), where a defect in the beta-Glucosidase (GBA) gene leads to the accumulation of glucosylceramide.
In this publication our data show that the biomarker lyso-Gb3 may identify the clinically relevant agalA mutations leading to Fabry disease. Read more!
Our data show that the biomarker lyso-Gb3 may identify the clinically relevant agalA mutations leading to Fabry disease.
We used a mutant mouse model to examine the effects of NPC1 to morphologically distinct regions of the olfactory system. Read more!
Our data demonstrate a pronounced neurodegeneration and glia activation in the olfactory system of NPC1-/-, which is accompanied by sensory deficits.
We evaluated the sensitivity and specificity of the previously reported biomarker glucosylsphingosine with regard to different control groups. Read more!
Only GD patients displayed elevated levels of Glucosylsphingosine higher than 12 ng/ml whereas the comparison controls groups revealed concentrations below the pathological cut-off, verifying the specificity of Glucosylsphingosine as a biomarker for GD. In addition, we evaluated the biomarker before and during enzyme replacement therapy (ERT) in 19 patients, demonstrating a decrease in Glucosylsphingosine over time with the most pronounced reduction within the first 6 months of ERT. Furthermore, our data reveals a correlation between the medical consequence of specific mutations and Glucosylsphingosine.
We investigated whether Fabry disease could be a cause of idiopathic SFN with or without large fiber involvement in young to middle-aged patients. Read more!
The following etiologies were identified in 12 patients: impaired glucose tolerance (58.3%), diabetes mellitus (16.6%), alcohol abuse (8.3%), mitochondrial disease (8.3%), and hereditary neuropathy (8.3%). Genetic alterations of unknown clinical significance in GLA were detected in 6 of the 29 patients with true idiopathic SFN, but this rate did not differ significantly from that in healthy controls (n=203).
