Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of
neurodegenerative disorders that are clinically characterised by progressive spasticity and …

The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders
that are clinically classified as either pure with predominant lower limb spasticity, or complex …

The mutation of the spatacsin gene is the single most common cause of autosomal
recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical …

Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders,
clinically classified in pure and complex forms. Genetically, more than 70 different forms of …

The list of genetic causes of syndromes of dystonia parkinsonism grows constantly. As a
consequence, the diagnosis becomes more and more challenging for the clinician. Here, we …

Abstract Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that
share clinical characteristics of progressive distal muscle weakness and atrophy, foot …

Hereditary spastic paraplegias are a group of inherited motor neuron diseases
characterized by progressive paraparesis and spasticity. Mutations in the spastic paraplegia …

Abstract Adaptor proteins (AP 1–5) are heterotetrameric complexes that facilitate specialized
cargo sorting in vesicular-mediated trafficking. Mutations in AP5Z1, encoding a subunit of …

Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with
more than 80 disease genes identified thus far. Studies on large cohorts of HSP patients …

Objective: Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited
neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene …