- Department of Molecular Neuroscience (S.C., J.B., R.G.), UCL Institute of Neurology, University College London, United Kingdom;
- Paediatric Neurology Department (C.M., S.T.D.), Hospital Dona Estefania, Centro Hospitalar de Lisboa Central;
- Genetics Department (M.A.), Hospital Dona Estefania, Centro Hospitalar de Lisboa Central;
- Reference Center of Inherited Metabolic Diseases (A.C.F.), Centro Hospitalar de Lisboa Central;
- Neuroradiology Department (C.C.), Hospital Dona Estefania, Centro Hospitalar de Lisboa Central;
- UK Dementia Research Institute (J.B., R.G.), University College London, United Kingdom;
- Department of Medical Sciences (J.B., R.G.), Institute of Biomedicine, iBiMED, University of Aveiro, Portugal.
Neurol Genet 2018;4:e273. doi:10.1212/NXG.0000000000000273
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 AP4S1 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.
Palavras Chave: MRI; Spastic paraplegia