Faces are of essential importance for human social life. They provide valuable information about the identity, expression, gaze, health, and age of a person. Recent face-processing models assume highly interconnected neural structures between different temporal, occipital, and frontal brain areas with several feedback loops. A selective deficit in the visual learning and recognition of faces is...

In 22 families with the "pure" form of hereditary spastic paraplegia inheritance was autosomal dominant in 19 and autosomal recessive in three. Examination of intrafamilial correlation of age of onset in the dominant cases suggested that the disorder is genetically heterogeneous. Two forms of dominant hereditary spastic paraplegia were identified: one with an age of onset mostly below 35 years ...

In occupational situations, accidents referred to as accidents on the level (AoLs) occur most of the time when locomotion control fails. This control is determined by the interactions between the operator and the environment, the task and the used tools. Hence, AoLs prevention requires developing ways to optimise these interactions. More fundamentally, AoLs prevention requires understanding loc...

PURPOSE We aimed to investigate white matter diffusivity abnormalities in hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) patients in relation with electrophysiological findings. MATERIALS AND METHODS Brain magnetic resonance imaging (MRI) and diffusion tensor imaging were performed on four HSP-TCC patients and 15 age-matched healthy subjects. Voxel-wise statistical analysis...

BACKGROUND Hereditary spastic paraplegia defines a group of genetically heterogeneous diseases characterized by weakness and spasticity of the lower limbs owing to retrograde degeneration of corticospinal axons. One autosomal recessive form of the disease is caused by mutation in the SPG7 gene. Paraplegin, the product of SPG7, is a component of the m-AAA protease, a high molecular weight comple...

Genetic heterogeneity is common in many Mendelian disorders such as hereditary spastic paraplegia (HSP), which makes the genetic diagnosis more complicated. The goal of this study was to investigate a Chinese family with recessive hereditary spastic paraplegia, of which causative mutations could not be identified using the conventional PCR-based direct sequencing. Next-generation sequencing of ...

BACKGROUND Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease. The most frequent cause of autosomal dominant HSP is mutation of SPAST (SPG4 locus), but additional pedigrees remain mutation negative by conventional screening despite linkage to SPG4. OBJECTIVE To determine the frequency of genomic copy number aberrations of SPAST in autosomal dominant H...

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with genetic and clinical heterogeneity characterized by spasticity weakness the lower limbs. It includes four inheritance forms: autosomal dominant (AD), recessive (AR), X-linked inheritance, mitochondrial inheritance. To date, more than 82 gene loci have been found to cause HSP, SPG15 ( ZFYVE26 ) one most common here...

Silver syndrome (Silver spastic paraplegia syndrome) is a rare disorder of the peripheral nervous system that combines features of spastic paraparesis and peripheral neuropathy. The underlying genetic defects are two mutations in the BSCL2 gene which have been described in several families. Silver syndrome--related to the N88S mutation in the BSCL2 gene--is characterized by a spectrum of clinic...

The hereditary " ataxias " comprise a group of well recognized degenerative disorders of the central nervous system wherein the neurological syndromes are largely determined by genetic transmission. Clinical evidence of involvement of the pyramidal tracts is often present, as for example in Friedreich's ataxia, but from a study of the literature it would seem that degeneration ofthe pryamidal t...