Radim Mazanec

TL;DR: The same mutation (K141N) in small heat-shock 22-kDa protein 8 (encoded by HSPB8) is identified in two pedigrees with distal hereditary motor neuropathy type II linked to chromosome 12q24.3, providing further evidence that mutations in heat- shock proteins have an important role in neurodegenerative disorders.

TL;DR: Electrophysiological data showed in the majority of patients normal to slightly reduced nerve conduction velocities with often severely reduced amplitudes of the compound motor and sensory nerve action potentials, whereas a smaller group experienced a later onset and milder disease course.

TL;DR: This case study shows that the implantation of autologous bone marrow cells appears to be safe, as there have been no complications following implantation to date, but longer follow-ups are required to determine that implantation is definitively safe.

TL;DR: The identification of multiple patients with different patterns of CCG and CTC interruptions in the DMPK CTG repeat tract that display unique intergenerational instability has important consequences for molecular genetic testing where they can lead to false negative conclusions.

TL;DR: The distribution of mutations in these seven genes are investigated in a cohort of 112 familial and isolated patients with a diagnosis of distal motor neuropathy and found nine different disease-causing mutations in HSPB8, H SPB1, BSCL2 and SETX in 17 patients of whom 10 have been previously reported.