Author(s): Carmona, S ; Marecos, C ; Amorim, M ; Ferreira, AC ; Conceição, C ; Brás, J ; Duarte, ST ; Guerreiro, R
Date: 2018
Persistent ID: http://hdl.handle.net/10400.17/3085
Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Subject(s): Hereditary Spastic Paraplegias; Polymicrogyria; HDE GEN; HDE NRAD; HDE NEU PED; HDE MTB
Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction of the long descending fibers of the corticospinal tract, causing lower limb spasticity and muscular weakness. This group of diseases has a heterogeneous clinical presentation. An extensive list of associated genes, different inheritance patterns, and ages at onset have been reported in HSPs.1 Spastic paraplegia type 52 (SPG52) is an autosomal recessive disease caused by AP4S mutations. The disease is characterized by neonatal hypotonia that progresses to hypertonia and spasticity in early childhood, developmental delay, mental retardation, and poor or absent speech. Febrile or afebrile seizures may also occur.
