2 documents found, page 1 of 1
A KIF5A Motor Domain Pathogenic Variant Associated with Spastic Paraplegia Type...
Jesus, Tiago; Paula, André; Carvalho, Vanessa; Correia Guedes, LeonorSpastic paraplegia type 10 is an autosomal dominant disease caused by KIF5A gene pathogenic variants. It commonly presents as pure spastic paraplegia but occasionally appears associated with polyneuropathy, cognitive impairment, parkinsonism, cerebellar ataxia, retinitis pigmentosa or deafness. The gene KIF5A codifies the kinesin-1 heavy chain, a protein with three main parts (globular motor domain, alfa-helica...
Combined central and peripheral demyelination after COVID-19 vaccination
Coelho, Pedro; Paula, André; Martins, Isabel Vidal; Falcão De Campos, Catarina; Ferreira, João; Antunes, Ana Patrícia; Albuquerque, LuísaCombined central and peripheral demyelination (CCPD) is a rare neurological entity that afects both the central and peripheral nervous system with demyelinating lesions. The pattern of involvement of the central nervous system (CNS) includes frequent bilateral optical neuritis, involvement of grey matter and occasional longitudinally extensive transverse myelitis (LETM) in the absence of oligoclonal bands (OCB)...