Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic
neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The …

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the
predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised …

In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …

The endoplasmic reticulum (ER) consists of the nuclear envelope and both peripheral ER
sheets and a peripheral tubular network [1, 2]. In response to physiological or pathological …

Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor
neurodegenerative disorders that have the core clinical presentation of pyramidal syndrome …

The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic
disorders with the common feature of prominent lower-extremity spasticity, resulting from a …

Abstract Purpose of Review Hereditary spastic paraplegias are a genetically heterogeneous
group of neurological disorders. Patients present lower limb weakness and spasticity …

Mutations in more than 70 distinct loci and more than 50 mutated gene products have been
identified in patients with hereditary spastic paraplegias, a diverse group of neurological …

There is a growing appreciation that membrane-bound organelles in eukaryotic cells
communicate directly with one another through direct membrane contact sites. Mitochondria …

Hereditary spastic paraplegias (HSPs) are neurologic disorders characterized by prominent
lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal …