0000000000586269
AUTHOR
Davide Bertuzzo
Amyotrophic lateral sclerosis outcome measures and the role of albumin and creatinine: a population-based study.
Importance There is an urgent need to identify reliable biomarkers of amyotrophic lateral sclerosis (ALS) progression for clinical practice and pharmacological trials. Objectives To correlate several hematological markers evaluated at diagnosis with ALS outcome in a population-based series of patients (discovery cohort) and replicate the findings in an independent validation cohort from an ALS tertiary center. Design, Setting, and Participants The discovery cohort included 712 patients with ALS from the Piemonte and Valle d’Aosta Register for Amyotrophic Lateral Sclerosis from January 1, 2007, to December 31, 2011. The validation cohort comprised 122 patients with ALS at different stages of…
Persistent idiopathic hypoglossal nerve palsy: A motor neuron disease-mimic syndrome?
Unilateral isolated hypoglossal nerve palsy (IHNP) is a condition (1–7) usually symptomatic of a pathology of the skull base (6,8). In rare cases, IHNP remains of unknown aetiology and is classifie...
HFE p.H63D polymorphism does not influence ALS phenotype and survival.
It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significa…