Masaaki Saito

TL;DR: It is proposed that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.

TL;DR: A novel strategy, the direct identification of repeat expansion and cloning technique (DIRECT), which allows selective detection of expanded GAG repeats and cloning of the genes involved and will dramatically accelerate the search for causative genes of neuropsychiatric diseases caused by trinucleotide repeat expansions.

TL;DR: It is shown that CMT2A patients contain a loss-of-function mutation in the motor domain of the KIF1B gene, clear indication that defects in axonal transport due to a mutated motor protein can underlie human peripheral neuropathy.

TL;DR: Genomewide linkage analysis of a Japanese family with autosomal dominant parkinsonism, which exhibits clinical features compatible with those of common Parkinson's disease, yielded Zmax LOD scores of 14.2 and 24.9 at D12S345, respectively, strongly supporting the mapping of the parkinsonist locus in this family to 12p11.23–q13.11.

TL;DR: Strong evidence is discovered for the localization of the AR-JP gene at chromosome 6q25, including the SOD2 locus, by linkage analysis of diallelic polymorphism of the Mn-superoxide dismutase gene (SOD2).