Anticipation Can Be More Common in Hereditary Spastic Paraplegia with Mutations Than It Appears.

Background And Objective: Hereditary spastic paraplegia (HSP) is a heterogeneous neurodegenerative disorder with lower-limb spasticity and weakness. Different patterns of inheritance have been identified in HSP. Most autosomal-dominant HSPs (AD-HSPs) are associated with mutations of the gene (SPG4), leading to a pure form of HSP with variable age-at-onset (AAO).

Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.

Neurodegeneration with brain iron accumulation (NBIA) is a term used for a group of hereditary neurological disorders with abnormal accumulation of iron in basal ganglia. It is clinically and genetically heterogeneous with symptoms such as dystonia, dysarthria, Parkinsonism, intellectual disability, and spasticity. The age at onset and rate of progression are variable among individuals.

Clinical spectrum in multiple families with primary COQ deficiency.

Coenzyme Q COQ , an essential cofactor in the electron-transport chain is involved in ATP production. Primary COQ deficiency is clinically and genetically a heterogeneous group of mitochondrial disorders caused by defects in the COQ synthesis pathway. Its mode of inheritance is autosomal recessive and it is characterized by metabolic abnormalities and multisystem involvement including neurological features.