-
Subacute sclerosing panencephalitis (SSPE) the story of a vanishing disease
27 January 2012
Natan Gadoth
Abstract: Subacute sclerosing panencephalitis (SSPE), is a devastating “slow virus” brain disease which affects young children who had measles some 6–7years earlier. Although, the pandemic of SSPE dur...
-
Childhood-onset anti-MuSK antibody positive myasthenia gravis demonstrates a distinct clinical course
25 January 2012
Yumi Takahashi, Minako Sugiyama, Yuki Ueda, Tomoshiro Itoh, Kazuyori Yagyu, Hideaki Shiraishi, Yukayo Ukeba-Terashita, Masanori Nakanishi, Tetsuro Nagashima, Tomihiro Imai, Masakatsu Motomura, Shinji Saitoh
Abstract: Anti-muscle-specific tyrosine kinase antibody (MuSK-Ab) is the second most frequent autoantibody identified in adult patients with myasthenia gravis (MG). Adult patients with MuSK-Ab demonst...
-
Molecular diagnostic dilemmas in Rett syndrome
25 January 2012
Val Zvereff, Lori Carpenter, Dagny Patton, Huong Cabral, Debra Rita, Ashley Wilson, Kwame Anyane-Yeboa, Larry White, Kenneth J. Friedman
Abstract: Rett syndrome (OMIM 312750) is a progressive, X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene located on chromosome Xq28. The disorder is characterized by a period...
-
Hypoyelination in I-cell disease; MRI, MR spectroscopy and neuropathological correlation
24 January 2012
Jun-ichi Takanashi, Masaharu Hayashi, Shota Yuasa, Hiroyuki Satoh, Hitoshi Terada
Abstract: MRI of a female patient with genetically diagnosed I-cell disease at 2weeks, 4 and 8months revealed delayed myelination or hypomyelination with decreased choline on MR spectroscopy. Brain au...
-
Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy
24 January 2012
Eri Takeshita, Eiji Nakagawa, Katsutoshi Nakatani, Masayuki Sasaki, Yu-ichi Goto
Abstract: Angiotensin II type-2 receptor gene (AGTR2) mutations have been recently detected in patients with mental retardation. AGTR2 plays a role in central nervous system development and cognitive ...
View More Articles in Press...