Dyneinopathy
RSS feedAn overview of DYNC1H1-related dyneinopathies
An international multicentre study reports on the clinical, molecular and imaging variety of 47 individuals from 43 families with a mutation in the DYNC1H1 gene. This gene encodes the heavy chain of plasma dynein 1, which plays a central role in retrograde transport along neuronal axons. In addition to motor neuron damage, patients presented with … [Read more]
A Franco-British study of spinal muscular atrophy not linked to chromosome 5q
Clinicians and geneticists from the Filnemus network, including members of the Institute of Myology, and from London pooled data from patients presenting with a picture compatible with spinal muscular atrophy, but where an SMN1 gene anomaly had been formally excluded: 71 patients from 65 families were included in the study, phenotypes were divided between proximal, … [Read more]
Molecular characterisation of SMA not linked to chromosome 5q remains imperfect
A very small percentage of patients with a phenotype compatible with spinal muscular atrophy are found not to have homozygous deletions or point mutations in the SMN1 gene (non-5q SMA). Clinicians and biologists from five French Neuromuscular Reference Centres shared their experience in this field: 24 patients with non-5q SMA from nine families were documented … [Read more]
A very late-onset form of SMA-LED
Spinal muscular atrophy with lower extremity dominance (SMA-LED) is an ultra-rare distal spinal muscular atrophy initially described in children. Two distinct genes, DYNC1H1 and BICD2, cause SMA-LED1 and SMA-LED2 respectively. Australian clinicians report a highly original case due to the very late onset of the disease: the patient had been suffering from a waddling gait … [Read more]
