Spinal muscular atrophy (SMA) adalah kelainan autosomal resesif langka akibat mutasi atau hilangnya gen survival motor neuron 1 (SMN1) pada kromosom 5q13. Insiden global SMA diperkirakan 1:11.000 kelahiran hidup. Manifestasi klinis berupa kelemahan otot progresif dan penurunan tonus yang berhubungan dengan destruksi unit motorik alfa lower neuron. Gejala prognosis lebih berat jika usia onset ge...

Variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy with lower extremity dominance (SMALED2) which is characterized muscle weakness and atrophy. We describe a novel, heterozygous BICD2 variant (c.1661T>C, [p.Leu554Pro]) 21-month-old female patient more severe phenotypic presentation than the typical SMALED2 expression including arthrogryposis multiplex c...

The problem of having offspring with inherited diseases can be resolved in some cases through preimplantation genetic diagnosis (PGD). Spinal Muscular Atrophy (SMA) is one of these diseases. In my short term visit to Guy's Hospital in London, I set up a panel of markers which can be used for preimplantion genetic haplotyping in affected families with this pathology.

Studies of the organisation and function of the adult central nervous system (CNS) elucidated many basic properties of neurones and their interactions with each other. The present meeting illustrates the progress made during the past years in understanding the mechanisms involved in the processing of information by the CNS. Developmental biologists and neuroscientists are attempting to understa...