Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurological diseases
characterized by extreme heterogeneity in both their clinical manifestations and genetic …

Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron
disorders characterized by progressive weakness and spasticity of the lower limbs. HSP …

Although amyotrophic lateral sclerosis (ALS) has been considered as a disorder of the motor
neuron (MN) cell body, recent evidences show the non-cell-autonomous pathogenic nature …

Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly
dominant inheritance and a life expectancy of 2–5 years; however, a quite common …

Hereditary spastic paraplegias are a diverse group of degenerative disorders that are
clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic …

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a heterogeneous
genetic background. Because mutation analysis by Sanger sequencing is costly and time …

Biallelic variants in the ERLIN1 gene were recently reported as the cause of two motor
neuron degeneration diseases, SPG62 and a recessive form of amyotrophic lateral …

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and
genetically heterogeneous, and that the genetic component in sporadic cases might be …

Background SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia
(ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share …

Группа наследственных спастических параплегий включает около 80 SPG (Spastic
Paraplegia Gene): форм с идентифицированными (почти 70) или только …