der(Y)t(Y;1)(q11-12;q12-21)

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.

C harcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders that involve the peripheral nervous system. It is characterised by progressive distal neurogenic muscular atrophy and weakness that initially affects the peroneal muscles and later the hands. Charcot-Marie-Tooth disease type 1 (CMT1), also called hereditary motor and sensory neuropathy type I (HM...

A21 21..21

Two papers in the Journal this month report on results from the Christchurch Psychotherapy of Depression Study, a randomised controlled trial of interpersonal psychotherapy and cognitive–behavioural therapy (CBT) involving an out-patient sample. Luty et al (pp. 496–502) found no significant difference in efficacy between the two treatment groups, with overall improvements in depressive symptoma...

A21 21..21

Three papers in the Journal this month consider issues related to outcomes and treatment in first-episode psychosis. Crossley et al (pp. 434–439) reviewed 15 randomised controlled trials of antipsychotic treatment in first-episode psychosis and found no evidence for differences in discontinuation rates or effect on symptoms between atypical and typical antipsychotics. Clear differences in side-...

جلد 21

IL 21 R ( interleukin 21 receptor )

The IL21R gene is comprised of 9 exons (+2 alternative first exons), spanning 48.4kb on chromosome 16p11 (Parrish-Novak, 2000). The human IL21R promoter region, contained within nucleotides -789 to +195 (relative to the start of exon 1a) induces the high levels of transcription in reporter assays (Ueda, 2002). A critical SP1 binding site is contained in the region from -80 to -20 and is essenti...