Ricerc@Sapienza

An increasing number of rare mutations linked to autism spectrum disorders have been reported in genes encoding for proteins involved in synapse formation and maintenance, such as the post-synaptic cell adhesion proteins neuroligins. Most of the autism-linked mutations in the neuroligin genes map on the extracellular protein domain. The autism-linked substitution R451C in Neuroligin3 (NLGN3) induces a local misfolding of the extracellular domain, causing defective trafficking and retention of the mutant protein in the endoplasmic reticulum (ER).

Cerebellar climbing-fiber-mediated complex spikes originate from neurons in the inferior olive (IO), are critical for motor coordination, and are central to theories of cerebellar learning. Hyperpolarization-activated cyclic-nucleotide-gated (HCN) channels expressed by IO neurons have been considered as pacemaker currents important for oscillatory and resonant dynamics.

One of the features that distinguishes modern humans from our extinct relatives and ancestors is a globular shape of the braincase [1-4]. As the endocranium closely mirrors the outer shape of the brain, these differences might reflect altered neural architecture [4, 5]. However, in the absence of fossil brain tissue, the underlying neuroanatomical changes as well as their genetic bases remain elusive. To better understand the biological foundations of modern human endocranial shape, we turn to our closest extinct relatives: the Neandertals.

Abstract: KCND3 encodes the voltage-gated potassium ion channel subfamily D member 3, a six
trans-membrane protein (Kv4.3), involved in the transient outward K+ current. KCND3 defect
causes both cardiological and neurological syndromes. From a neurological perspective, Kv4.3
defect has been associated to SCA type 19/22, a complex neurological disorder encompassing a
wide spectrum of clinical features beside ataxia. To better define the phenotypic spectrum and
course of KCND3-related neurological disorder, we review the clinical presentation and evolution