Paraplegia pdf
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گزارش یک مورد پاراپلژی ناشی از دیسکسیون تروماتیک آئورت
Non-penetrating injuries have become one of the leading causes of death as the number of accidents involving motor vehicles iscreases every day. Dissection of the descending thoracic aorta is the most dangerous injury in trauma surgeries and because of its numerous clinical presentations it mimics various medical and surgical conditions. Paraplegia is one of its rare presentations and has ...
متن کاملExpanded phenotype in a patient with spastic paraplegia 7
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.
متن کاملNeuropathology: Many Paths Lead to Hereditary Spastic Paraplegia
Studies with animal models are providing new insights into the pathology of hereditary spastic paraplegia, particularly how mutations in multiple, converging pathways can lead to this family of neuropathies.
متن کاملDe novo REEP2 missense mutation in pure hereditary spastic paraplegia
Alterations in proteins that regulate endoplasmic reticulum morphology are common causes of hereditary spastic paraplegia (SPG1-78, plus others). Mutations in the REEP1 gene that encodes an endoplasmic reticulum-shaping protein are well-known causes of SPG31, a common autosomal dominant spastic paraplegia. A closely-related gene, REEP2, is mutated in SPG72, with both autosomal and recessive inh...
متن کاملMotor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional eva...
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تاریخ انتشار 2015