Giuseppe Di Iorio

TL;DR: A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype.

TL;DR: In this article, genetic markers on chromosome 4q21-q23 were found to be linked to the PD phenotype in a large kindred with autosomal dominant PD, with a Zmax = 6.00 for marker D4S2380.

TL;DR: The findings show that a presumably single mutation can prodcue a heterogeneous PD phenotype, even among siblings, consistent with the hypothesis that PD in the community may in fact be caused by a mutation, but one producing a lower penetrance and older age at onset than those in this kindred.

TL;DR: A large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions.

TL;DR: Results suggest an abnormal intracerebral thyroid hormone metabolism and possibly the occurrence of brain hypothyroidism, either as a secondary consequence of the ongoing process or as a cofactor in the progression of the disease.