Complex spastic paraplegia as a neurological phenotype in an opa1 patient Page 1 Complex
spastic paraplegia as a neurological phenotype in an opa1 patient CASE REPORT Ana Beatriz …

Background Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an
autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt …

AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency
syndrome, is a genetically diverse group of neurologic disorders defined by complex spastic …

Background Autosomal recessive mutations in the AP-4 (adaptor protein complex 4)
complex subunit ϵ− 1 (AP-4E1) gene on chromosome 15q21. 2 are known to cause spastic …

Introdução: A síndrome Spoan é uma forma de paraplegia espástica complicada de
herança recessiva recentemente identificada em indivíduos originários do sudoeste do …

Introdução: A atrofia óptica autossômica dominante (ADOA) é uma das formas mais comuns
de atrofias ópticas hereditárias, e causada por mutações no gene OPA1. Os pacientes …

Hereditary spastic paraplegia (HSP) includes a group of clinically and genetically
heterogeneous disorders with multiple genetic loci participating in its pathogenesis. Here we …

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders
characterized by progressive bilateral lower limb weakness and spasticity. In addition, HSP …

Introdução: A síndrome SPOAN é uma doença neurodegenerativa, de transmissão genética
autossômica recessiva, até o momento reconhecida apenas no Brasil, que caracteriza-se …

Variants in FA2H have been associated with a wide range of phenotypes including
hereditary spastic paraplegia type 35 (SPG35); however, genetically confirmed cases have …