Advancium Health Network, a public charity dedicated to advancing therapies for rare diseases, has awarded two major grants ...

1 Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, Institut de Investigacions Biomèdiques de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain 2 Molecular ...

New CMTA-STAR project aims to uncover elusive mutations in CMT through long-read sequencing, helping more patients reach a genetic diagnos ...

Some reduction in conduction velocity can be the result of axonal damage. Thus, the predominant pattern of neuropathy in our patients was of the axonal type. This is similar to a recent study ...

This update illustrated the progress in the understanding of the molecular causes of hereditary retinal and optic nerve diseases that has occurred in the past few years. This new knowledge offers ...

Purpose To describe the pattern of MRI changes in the pregeniculate visual pathway in Leber hereditary optic neuropathy (LHON). Method This retrospective observational study enrolled 60 patients with ...

sghms.ac.uk Leber’s hereditary optic neuropathy (LHON) is characterised by acute or subacute central visual loss 1 that typically occurs in early adult life. Three mitochondrial DNA (mtDNA) point ...

Alcoholic neuropathy, also known as alcoholic peripheral neuropathy, refers to damage of the nerves due to chronic and excessive alcohol consumption. Affected nerves include the peripheral nerves, ...

Bamboo has pre-clinical treatments for Duchenne muscular dystrophy, Friedreich’s Ataxia and Canavan disease, and a phase 1 asset for Giant Axonal Neuropathy. Unlike Biogen and its investment of ...

Neurological assessment comprised nerve conduction studies (NCS) and magnetic resonance imaging (MRI). NCS indicated axonal neuropathy, and MRI revealed T2/FLAIR hyperintensities in the dentate nuclei ...

Long-term treatment with patisiran (Onpattro) led to modest changes for people with hereditary transthyretin ... polyneuropathy severity -- assessed by Neuropathy Impairment Scores (NIS), which ...