S Salvi

TL;DR: The identification of two homozygous mutations affecting the PINK1 kinase domain in three consanguineous PARK6 families provide a direct molecular link between mitochondria and the pathogenesis of PD.

TL;DR: The hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism is supported, however, the pathogenetic significance of heterozygous Pink1 mutations still remains to be clarified.

TL;DR: The authors identified 12 mutations in the PANK2 gene, five of which were new, and two patients presented with motor tics and obsessive-compulsive behavior suggestive of Tourette syndrome.

TL;DR: Key associated features of JS are retinal dystrophy and nephronophthisis, but other manifestations include ocular colobomas, liver fibrosis, and polydactyly, and the variable involvement of other organs identifies a large spectrum of syndromes sharing the MTS which, together with JS, are termed Joubert syndrome related disorders (JSRD) or MTS related syndrome.

TL;DR: Mutations in the epsilon-sarcoglycan gene (SGCE) are found in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but the full spectrum of the phenotype may not be fully defined.