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References in periodicals archive ?
Yahyaoui, "Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31 -14.1," European Journal of Human Genetics, vol.
I sponsored again at Huntingdon on November 13 using the same title, the Hereditary Spastic Paraplegia Awareness Novices' Hurdle, as well as three other races in my company name of Sportsbookmakers.
"We're proud to help in raising awareness of this event and the Spastic Paraplegia Foundation."
The 38-year-old, from Coedcae Street in Grangetown, Cardiff, has hereditary spastic paraplegia, a condition which affects the spinal cord and causes stiffness in the legs.
He has mild mental retardation, cerebral palsy, arthritis and spastic paraplegia. He has survived 17 chest surgeries and numerous comas.
Deplorable medical care of a newborn resulted in a child who was blind, neurologically impaired, and had spastic paraplegia.
Inoue, "PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2," Neurogenetics, vol.
Hereditary spastic paraplegia type 18 (HSP18) is a complicated form of autosomal recessive HSP characterized by progressive weakness and spasticity of the lower extremities, dysarthria, and cognitive decline.[sup][1],[2],[3] In the year 2011, HSP18, also known as Spastic Paraplegia 18 (SPG18), was firstly identified due to a candidate gene endoplasmic reticulum lipid raft-associated protein 2 ( ERLIN2 ) on chromosome 8p11.2 in one Saudis family.[sup][1] During the past 5 years, another two families with SPG18 due to ERLIN2 mutations have been reported presenting with complicated phenotype.[sup][2],[3] Here, we reported a patient born in a nonconsanguineous family who possessed an autosomal recessive pure form of HSP owing to novel mutations in ERLIN2 .
Amber was an able-bodied skier from the age of seven but four years ago developed hereditary spastic paraplegia, a rare neurological condition that affects the muscles in her legs.
Accumulated evidence indicates that oxidative stress plays a major role in the pathogenesis of several neurodegenerative diseases, including Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD), multiple sclerosis (MS), and hereditary spastic paraplegia (HSP).
In lieu of flowers, memorial donations may be made to the Spastic Paraplegia Foundation, Inc., P.O.