Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Objective: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls.

Methods: Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitive regression, and epilepsy in addition to loss of vision. We quantified mitophagy in dermal fibroblasts, using 2 high throughput imaging systems, by visualizing colocalization of mitochondrial fragments with engulfing autophagosomes.

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.

The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibited a 43 bp deletion at a different location in the same exon (c.

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by mutations in the EDA gene. A girl with severe hypohidrotic ectodermal dysplasia and normal mental development had completely skewed X chromosome inactivation with only the paternal X active in peripheral blood cells. Routine chromosome analysis and sequencing of the EDA gene were normal.

Transfer versus transition: success in pediatric transplantation brings the welcome challenge of transition.

Context: Increasing success with solid organ transplantation in children has increased the numbers of adolescents and young adults who are at an age to transfer to adult healthcare.

Objective: To determine the nature of transfer/transition of adolescents and young adults to adult healthcare.

Design: Using a qualitative approach, 24 young adults provided answers to 12 questions about their transfer to adult healthcare.

Population based study of late onset cerebellar ataxia in south east Wales.

Objective: To determine the prevalence and causation of late onset cerebellar ataxia (LOCA) in south east Wales, United Kingdom.

Methods: A population based study of LOCA was conducted in a defined geographical region with a total population of 742,400. Multiple sources of ascertainment were used to identify all cases prevalent on 1 January 2001.